Full text data of BCAM
BCAM
(LU, MSK19)
[Confidence: high (a blood group or CD marker)]
Basal cell adhesion molecule (Auberger B antigen; B-CAM cell surface glycoprotein; F8/G253 antigen; Lutheran antigen; Lutheran blood group glycoprotein; CD239; Flags: Precursor)
Basal cell adhesion molecule (Auberger B antigen; B-CAM cell surface glycoprotein; F8/G253 antigen; Lutheran antigen; Lutheran blood group glycoprotein; CD239; Flags: Precursor)
hRBCD
IPI00002406
IPI00002406 Lutheran blood group glycoprotein precursor Lutheran blood group glycoprotein precursor membrane n/a 6 1 4 9 2 5 2 1 n/a 5 5 3 4 1 4 2 3 3 5 Type I membrane protein n/a found at its expected molecular weight found at molecular weight
IPI00002406 Lutheran blood group glycoprotein precursor Lutheran blood group glycoprotein precursor membrane n/a 6 1 4 9 2 5 2 1 n/a 5 5 3 4 1 4 2 3 3 5 Type I membrane protein n/a found at its expected molecular weight found at molecular weight
BGMUT
lutheran
501 lutheran BCAM BCAM (LU AUB) ref LU19, AUB reference reference Au(a-b +) or Au(a + b +) common: 68% of African-Americans; 51% of caucasians 9166867 X83425 Parsons et al. reference sequence for AUB or a G at nt 1615,encoding Ala 539; also reference for LUB; DNA sequence same as reference sequence for LUB, nt 230 being a G encoding an Arg at residue 77. Blumenfeld OO, curator 2011-08-09 00:48:51.540 NA
501 lutheran BCAM BCAM (LU AUB) ref LU19, AUB reference reference Au(a-b +) or Au(a + b +) common: 68% of African-Americans; 51% of caucasians 9166867 X83425 Parsons et al. reference sequence for AUB or a G at nt 1615,encoding Ala 539; also reference for LUB; DNA sequence same as reference sequence for LUB, nt 230 being a G encoding an Arg at residue 77. Blumenfeld OO, curator 2011-08-09 00:48:51.540 NA
UniProt
P50895
ID BCAM_HUMAN Reviewed; 628 AA.
AC P50895; A8MYF9; A9YWT5; A9YWT6; Q86VC7;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
read moreDT 07-MAR-2006, sequence version 2.
DT 22-JAN-2014, entry version 136.
DE RecName: Full=Basal cell adhesion molecule;
DE AltName: Full=Auberger B antigen;
DE AltName: Full=B-CAM cell surface glycoprotein;
DE AltName: Full=F8/G253 antigen;
DE AltName: Full=Lutheran antigen;
DE AltName: Full=Lutheran blood group glycoprotein;
DE AltName: CD_antigen=CD239;
DE Flags: Precursor;
GN Name=BCAM; Synonyms=LU, MSK19;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 32-67 AND 182-203, AND
RP VARIANT ALA-539.
RC TISSUE=Placenta;
RX PubMed=7777537; DOI=10.1073/pnas.92.12.5496;
RA Parsons S.F., Mallinson G., Holmes C.H., Houlihan J.M., Simpson K.L.,
RA Mawby W.J., Spurr N.K., Warne D., Barclay A.N., Anstee D.J.;
RT "The Lutheran blood group glycoprotein, another member of the
RT immunoglobulin superfamily, is widely expressed in human tissues and
RT is developmentally regulated in human liver.";
RL Proc. Natl. Acad. Sci. U.S.A. 92:5496-5500(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS HIS-77; ILE-196;
RP LYS-204; HIS-282; ILE-381; GLN-451 AND LEU-581.
RG SeattleSNPs variation discovery resource;
RL Submitted (DEC-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J.,
RA Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
RA Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
RA Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
RA Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
RA Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
RA Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
RA Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
RA Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
RA Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
RA Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
RA Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
RA Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
RA Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
RA Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-588, AND VARIANT ALA-539.
RX PubMed=7954395;
RA Campbell I.G., Foulkes W.D., Senger G., Trowsdale J., Garin-Chesa P.,
RA Rettig W.J.;
RT "Molecular cloning of the B-CAM cell surface glycoprotein of
RT epithelial cancers: a novel member of the immunoglobulin
RT superfamily.";
RL Cancer Res. 54:5761-5765(1994).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 492-539, AND VARIANT ALA-539.
RA Wang C., Li Q., Guo Z., Yang Y., Zhu Z.;
RT "Molecular basis of Lub(-) individual among Chinese blood donors in
RT Shanghai area.";
RL Submitted (NOV-2007) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP LU(A)/LU(B) POLYMORPHISM.
RX PubMed=9166867;
RA Parsons S.F., Mallinson G., Daniels G.L., Green C.A., Smythe J.S.,
RA Anstee D.J.;
RT "Use of domain-deletion mutants to locate Lutheran blood group
RT antigens to each of the five immunoglobulin superfamily domains of the
RT Lutheran glycoprotein: elucidation of the molecular basis of the
RT Lu(a)/Lu(b) and the Au(a)/Au(b) polymorphisms.";
RL Blood 89:4219-4225(1997).
RN [9]
RP LU(A)/LU(B) POLYMORPHISM.
RX PubMed=9192786;
RA El Nemer W., Rahuel C., Colin Y., Gane P., Cartron J.P.,
RA Le Van Kim C.;
RT "Organization of the human LU gene and molecular basis of the
RT Lu(a)/Lu(b) blood group polymorphism.";
RL Blood 89:4608-4616(1997).
RN [10]
RP FUNCTION.
RX PubMed=9616226; DOI=10.1172/JCI1204;
RA Udani M., Zen Q., Cottman M., Leonard N., Jefferson S., Daymont C.,
RA Truskey G., Telen M.J.;
RT "Basal cell adhesion molecule/lutheran protein. The receptor critical
RT for sickle cell adhesion to laminin.";
RL J. Clin. Invest. 101:2550-2558(1998).
RN [11]
RP GLYCOSYLATION AT ASN-439.
RX PubMed=12754519; DOI=10.1038/nbt827;
RA Zhang H., Li X.-J., Martin D.B., Aebersold R.;
RT "Identification and quantification of N-linked glycoproteins using
RT hydrazide chemistry, stable isotope labeling and mass spectrometry.";
RL Nat. Biotechnol. 21:660-666(2003).
RN [12]
RP PHOSPHORYLATION AT SER-596; SER-598 AND SER-621, AND MUTAGENESIS OF
RP SER-621.
RX PubMed=15975931; DOI=10.1074/jbc.M503293200;
RA Gauthier E., Rahuel C., Wautier M.P., El Nemer W., Gane P.,
RA Wautier J.L., Cartron J.P., Colin Y., Le Van Kim C.;
RT "Protein kinase A-dependent phosphorylation of Lutheran/basal cell
RT adhesion molecule glycoprotein regulates cell adhesion to laminin
RT alpha5.";
RL J. Biol. Chem. 280:30055-30062(2005).
RN [13]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-439, AND MASS
RP SPECTROMETRY.
RC TISSUE=Plasma;
RX PubMed=16335952; DOI=10.1021/pr0502065;
RA Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E.,
RA Moore R.J., Smith R.D.;
RT "Human plasma N-glycoproteome analysis by immunoaffinity subtraction,
RT hydrazide chemistry, and mass spectrometry.";
RL J. Proteome Res. 4:2070-2080(2005).
RN [14]
RP INVOLVEMENT IN THE LUTHERAN NULL PHENOTYPE.
RX PubMed=17319831; DOI=10.1111/j.1537-2995.2006.01141.x;
RA Karamatic Crew V., Mallinson G., Green C., Poole J., Uchikawa M.,
RA Tani Y., Geisen C., Oldenburg J., Daniels G.;
RT "Different inactivating mutations in the LU genes of three individuals
RT with the Lutheran-null phenotype.";
RL Transfusion 47:492-498(2007).
RN [15]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [16]
RP X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 32-262, LAMININ-ALPHA5
RP BINDING REGION, AND DISULFIDE BONDS.
RX PubMed=17638854; DOI=10.1182/blood-2007-06-094748;
RA Mankelow T.J., Burton N., Stefansdottir F.O., Spring F.A.,
RA Parsons S.F., Pedersen J.S., Oliveira C.L., Lammie D., Wess T.,
RA Mohandas N., Chasis J.A., Brady R.L., Anstee D.J.;
RT "The Laminin 511/521-binding site on the Lutheran blood group
RT glycoprotein is located at the flexible junction of Ig domains 2 and
RT 3.";
RL Blood 110:3398-3406(2007).
CC -!- FUNCTION: Laminin alpha-5 receptor. May mediate intracellular
CC signaling.
CC -!- SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane
CC protein.
CC -!- TISSUE SPECIFICITY: Wide tissue distribution (highest in the
CC pancreas and very low in brain). Closely associated with the basal
CC layer of cells in epithelia and the endothelium of blood vessel
CC walls.
CC -!- DEVELOPMENTAL STAGE: Is under developmental control in liver and
CC may also be regulated during differentiation in other tissues. Up-
CC regulated following malignant transformation in some cell types.
CC -!- PTM: Epinephrine-stimulated phosphorylation of Ser-621 by PKA
CC enhances adhesion to laminin.
CC -!- POLYMORPHISM: BCAM is responsible for the Lutheran blood group
CC system (LU) [MIM:111200]. Lutheran is a complex blood group system
CC consisting of 19 antigens. Antigens Lu(a) and Lu(b) are defined by
CC a polymorphism at position 77: Lu(a) has His-77 and Lu(b) has Arg-
CC 77.
CC -!- POLYMORPHISM: Inactivating variants in BCAM are responsible for
CC the recessive Lutheran null phenotype Lu(a-b-) of the Lutheran
CC blood group [MIM:247420]. Autosomal recessive inheritance of the
CC Lutheran null blood group phenotype is extremely rare. There is no
CC obvious associated clinical or hematologic pathology, and all
CC patients have been identified through identification of anti-Lu3
CC antibodies in their serum.
CC -!- SIMILARITY: Contains 3 Ig-like C2-type (immunoglobulin-like)
CC domains.
CC -!- SIMILARITY: Contains 2 Ig-like V-type (immunoglobulin-like)
CC domains.
CC -!- SEQUENCE CAUTION:
CC Sequence=EAW57297.1; Type=Erroneous gene model prediction;
CC -!- WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene
CC mutation database;
CC URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system;=lutheran";
CC -!- WEB RESOURCE: Name=SeattleSNPs;
CC URL="http://pga.gs.washington.edu/data/lu/";
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DR EMBL; X83425; CAA58449.1; -; mRNA.
DR EMBL; AY845133; AAV88096.1; -; Genomic_DNA.
DR EMBL; AC092306; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471126; EAW57297.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC050450; AAH50450.1; -; mRNA.
DR EMBL; X80026; CAA56327.1; -; mRNA.
DR EMBL; EU307108; ABY27636.1; -; Genomic_DNA.
DR EMBL; EU307109; ABY27637.1; -; Genomic_DNA.
DR PIR; I37202; I37202.
DR PIR; I38000; I38000.
DR RefSeq; NP_001013275.1; NM_001013257.2.
DR RefSeq; NP_005572.2; NM_005581.4.
DR UniGene; Hs.625725; -.
DR PDB; 2PET; X-ray; 1.70 A; A=32-262.
DR PDB; 2PF6; X-ray; 2.20 A; A/B=32-262.
DR PDBsum; 2PET; -.
DR PDBsum; 2PF6; -.
DR ProteinModelPortal; P50895; -.
DR SMR; P50895; 32-532.
DR MINT; MINT-5004331; -.
DR STRING; 9606.ENSP00000270233; -.
DR PhosphoSite; P50895; -.
DR DMDM; 92058724; -.
DR PaxDb; P50895; -.
DR PRIDE; P50895; -.
DR Ensembl; ENST00000270233; ENSP00000270233; ENSG00000187244.
DR Ensembl; ENST00000391955; ENSP00000375817; ENSG00000187244.
DR GeneID; 4059; -.
DR KEGG; hsa:4059; -.
DR UCSC; uc002ozt.2; human.
DR CTD; 4059; -.
DR GeneCards; GC19P045312; -.
DR HGNC; HGNC:6722; BCAM.
DR MIM; 111200; phenotype.
DR MIM; 247420; phenotype.
DR MIM; 612773; gene.
DR neXtProt; NX_P50895; -.
DR PharmGKB; PA30484; -.
DR eggNOG; NOG150030; -.
DR HOGENOM; HOG000113409; -.
DR InParanoid; P50895; -.
DR KO; K06578; -.
DR OMA; HYPTEHV; -.
DR OrthoDB; EOG7GBFWH; -.
DR PhylomeDB; P50895; -.
DR ChiTaRS; BCAM; human.
DR EvolutionaryTrace; P50895; -.
DR GeneWiki; BCAM; -.
DR GenomeRNAi; 4059; -.
DR NextBio; 15906; -.
DR PRO; PR:P50895; -.
DR ArrayExpress; P50895; -.
DR Bgee; P50895; -.
DR CleanEx; HS_BCAM; -.
DR Genevestigator; P50895; -.
DR GO; GO:0009897; C:external side of plasma membrane; IC:BHF-UCL.
DR GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
DR GO; GO:0043236; F:laminin binding; IMP:BHF-UCL.
DR GO; GO:0005055; F:laminin receptor activity; IMP:BHF-UCL.
DR GO; GO:0004888; F:transmembrane signaling receptor activity; TAS:ProtInc.
DR GO; GO:0007160; P:cell-matrix adhesion; IMP:BHF-UCL.
DR Gene3D; 2.60.40.10; -; 5.
DR InterPro; IPR013162; CD80_C2-set.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR003598; Ig_sub2.
DR Pfam; PF08205; C2-set_2; 1.
DR SMART; SM00409; IG; 2.
DR SMART; SM00408; IGc2; 2.
DR PROSITE; PS50835; IG_LIKE; 5.
PE 1: Evidence at protein level;
KW 3D-structure; Blood group antigen; Cell adhesion; Complete proteome;
KW Direct protein sequencing; Disulfide bond; Glycoprotein;
KW Immunoglobulin domain; Membrane; Phosphoprotein; Polymorphism;
KW Receptor; Reference proteome; Repeat; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1 31
FT CHAIN 32 628 Basal cell adhesion molecule.
FT /FTId=PRO_0000014850.
FT TOPO_DOM 32 547 Extracellular (Potential).
FT TRANSMEM 548 568 Helical; (Potential).
FT TOPO_DOM 569 628 Cytoplasmic (Potential).
FT DOMAIN 32 142 Ig-like V-type 1.
FT DOMAIN 147 257 Ig-like V-type 2.
FT DOMAIN 274 355 Ig-like C2-type 1.
FT DOMAIN 363 441 Ig-like C2-type 2.
FT DOMAIN 448 541 Ig-like C2-type 3.
FT REGION 309 312 Interaction with laminin alpha5.
FT MOD_RES 596 596 Phosphoserine; by GSK3.
FT MOD_RES 598 598 Phosphoserine; by CK2.
FT MOD_RES 621 621 Phosphoserine; by PKA.
FT CARBOHYD 321 321 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 377 377 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 383 383 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 419 419 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 439 439 N-linked (GlcNAc...).
FT DISULFID 53 125
FT DISULFID 172 237
FT DISULFID 291 337 Probable.
FT DISULFID 384 424 Probable.
FT DISULFID 473 522 Probable.
FT VARIANT 77 77 R -> H (defines the Lu(a) antigen;
FT dbSNP:rs28399653).
FT /FTId=VAR_021348.
FT VARIANT 196 196 V -> I (in dbSNP:rs28399654).
FT /FTId=VAR_021349.
FT VARIANT 204 204 M -> K (in dbSNP:rs28399656).
FT /FTId=VAR_021350.
FT VARIANT 282 282 R -> H (in dbSNP:rs9967601).
FT /FTId=VAR_021351.
FT VARIANT 381 381 V -> I (in dbSNP:rs28399626).
FT /FTId=VAR_021352.
FT VARIANT 451 451 K -> Q (in dbSNP:rs28399630).
FT /FTId=VAR_021353.
FT VARIANT 539 539 T -> A (in dbSNP:rs1135062).
FT /FTId=VAR_021354.
FT VARIANT 581 581 Q -> L (in dbSNP:rs28399659).
FT /FTId=VAR_021355.
FT MUTAGEN 621 621 S->A: Dramatically reduced cell adhesion.
FT CONFLICT 225 226 RL -> PC (in Ref. 6; CAA56327).
FT CONFLICT 355 356 EL -> DV (in Ref. 6; CAA56327).
FT CONFLICT 532 532 R -> L (in Ref. 7; ABY27636).
FT STRAND 34 36
FT STRAND 39 44
FT STRAND 49 51
FT STRAND 54 57
FT STRAND 60 69
FT STRAND 77 84
FT STRAND 87 92
FT STRAND 110 114
FT HELIX 117 119
FT STRAND 121 128
FT HELIX 130 132
FT STRAND 134 145
FT STRAND 151 154
FT STRAND 167 179
FT STRAND 182 187
FT STRAND 190 192
FT STRAND 200 210
FT STRAND 216 224
FT HELIX 228 232
FT STRAND 234 242
FT HELIX 244 246
FT STRAND 248 252
SQ SEQUENCE 628 AA; 67405 MW; C88F4F5C640C3F5B CRC64;
MEPPDAPAQA RGAPRLLLLA VLLAAHPDAQ AEVRLSVPPL VEVMRGKSVI LDCTPTGTHD
HYMLEWFLTD RSGARPRLAS AEMQGSELQV TMHDTRGRSP PYQLDSQGRL VLAEAQVGDE
RDYVCVVRAG AAGTAEATAR LNVFAKPEAT EVSPNKGTLS VMEDSAQEIA TCNSRNGNPA
PKITWYRNGQ RLEVPVEMNP EGYMTSRTVR EASGLLSLTS TLYLRLRKDD RDASFHCAAH
YSLPEGRHGR LDSPTFHLTL HYPTEHVQFW VGSPSTPAGW VREGDTVQLL CRGDGSPSPE
YTLFRLQDEQ EEVLNVNLEG NLTLEGVTRG QSGTYGCRVE DYDAADDVQL SKTLELRVAY
LDPLELSEGK VLSLPLNSSA VVNCSVHGLP TPALRWTKDS TPLGDGPMLS LSSITFDSNG
TYVCEASLPT VPVLSRTQNF TLLVQGSPEL KTAEIEPKAD GSWREGDEVT LICSARGHPD
PKLSWSQLGG SPAEPIPGRQ GWVSSSLTLK VTSALSRDGI SCEASNPHGN KRHVFHFGTV
SPQTSQAGVA VMAVAVSVGL LLLVVAVFYC VRRKGGPCCR QRREKGAPPP GEPGLSHSGS
EQPEQTGLLM GGASGGARGG SGGFGDEC
//
ID BCAM_HUMAN Reviewed; 628 AA.
AC P50895; A8MYF9; A9YWT5; A9YWT6; Q86VC7;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
read moreDT 07-MAR-2006, sequence version 2.
DT 22-JAN-2014, entry version 136.
DE RecName: Full=Basal cell adhesion molecule;
DE AltName: Full=Auberger B antigen;
DE AltName: Full=B-CAM cell surface glycoprotein;
DE AltName: Full=F8/G253 antigen;
DE AltName: Full=Lutheran antigen;
DE AltName: Full=Lutheran blood group glycoprotein;
DE AltName: CD_antigen=CD239;
DE Flags: Precursor;
GN Name=BCAM; Synonyms=LU, MSK19;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 32-67 AND 182-203, AND
RP VARIANT ALA-539.
RC TISSUE=Placenta;
RX PubMed=7777537; DOI=10.1073/pnas.92.12.5496;
RA Parsons S.F., Mallinson G., Holmes C.H., Houlihan J.M., Simpson K.L.,
RA Mawby W.J., Spurr N.K., Warne D., Barclay A.N., Anstee D.J.;
RT "The Lutheran blood group glycoprotein, another member of the
RT immunoglobulin superfamily, is widely expressed in human tissues and
RT is developmentally regulated in human liver.";
RL Proc. Natl. Acad. Sci. U.S.A. 92:5496-5500(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS HIS-77; ILE-196;
RP LYS-204; HIS-282; ILE-381; GLN-451 AND LEU-581.
RG SeattleSNPs variation discovery resource;
RL Submitted (DEC-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J.,
RA Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
RA Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
RA Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
RA Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
RA Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
RA Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
RA Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
RA Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
RA Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
RA Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
RA Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
RA Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
RA Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
RA Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-588, AND VARIANT ALA-539.
RX PubMed=7954395;
RA Campbell I.G., Foulkes W.D., Senger G., Trowsdale J., Garin-Chesa P.,
RA Rettig W.J.;
RT "Molecular cloning of the B-CAM cell surface glycoprotein of
RT epithelial cancers: a novel member of the immunoglobulin
RT superfamily.";
RL Cancer Res. 54:5761-5765(1994).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 492-539, AND VARIANT ALA-539.
RA Wang C., Li Q., Guo Z., Yang Y., Zhu Z.;
RT "Molecular basis of Lub(-) individual among Chinese blood donors in
RT Shanghai area.";
RL Submitted (NOV-2007) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP LU(A)/LU(B) POLYMORPHISM.
RX PubMed=9166867;
RA Parsons S.F., Mallinson G., Daniels G.L., Green C.A., Smythe J.S.,
RA Anstee D.J.;
RT "Use of domain-deletion mutants to locate Lutheran blood group
RT antigens to each of the five immunoglobulin superfamily domains of the
RT Lutheran glycoprotein: elucidation of the molecular basis of the
RT Lu(a)/Lu(b) and the Au(a)/Au(b) polymorphisms.";
RL Blood 89:4219-4225(1997).
RN [9]
RP LU(A)/LU(B) POLYMORPHISM.
RX PubMed=9192786;
RA El Nemer W., Rahuel C., Colin Y., Gane P., Cartron J.P.,
RA Le Van Kim C.;
RT "Organization of the human LU gene and molecular basis of the
RT Lu(a)/Lu(b) blood group polymorphism.";
RL Blood 89:4608-4616(1997).
RN [10]
RP FUNCTION.
RX PubMed=9616226; DOI=10.1172/JCI1204;
RA Udani M., Zen Q., Cottman M., Leonard N., Jefferson S., Daymont C.,
RA Truskey G., Telen M.J.;
RT "Basal cell adhesion molecule/lutheran protein. The receptor critical
RT for sickle cell adhesion to laminin.";
RL J. Clin. Invest. 101:2550-2558(1998).
RN [11]
RP GLYCOSYLATION AT ASN-439.
RX PubMed=12754519; DOI=10.1038/nbt827;
RA Zhang H., Li X.-J., Martin D.B., Aebersold R.;
RT "Identification and quantification of N-linked glycoproteins using
RT hydrazide chemistry, stable isotope labeling and mass spectrometry.";
RL Nat. Biotechnol. 21:660-666(2003).
RN [12]
RP PHOSPHORYLATION AT SER-596; SER-598 AND SER-621, AND MUTAGENESIS OF
RP SER-621.
RX PubMed=15975931; DOI=10.1074/jbc.M503293200;
RA Gauthier E., Rahuel C., Wautier M.P., El Nemer W., Gane P.,
RA Wautier J.L., Cartron J.P., Colin Y., Le Van Kim C.;
RT "Protein kinase A-dependent phosphorylation of Lutheran/basal cell
RT adhesion molecule glycoprotein regulates cell adhesion to laminin
RT alpha5.";
RL J. Biol. Chem. 280:30055-30062(2005).
RN [13]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-439, AND MASS
RP SPECTROMETRY.
RC TISSUE=Plasma;
RX PubMed=16335952; DOI=10.1021/pr0502065;
RA Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E.,
RA Moore R.J., Smith R.D.;
RT "Human plasma N-glycoproteome analysis by immunoaffinity subtraction,
RT hydrazide chemistry, and mass spectrometry.";
RL J. Proteome Res. 4:2070-2080(2005).
RN [14]
RP INVOLVEMENT IN THE LUTHERAN NULL PHENOTYPE.
RX PubMed=17319831; DOI=10.1111/j.1537-2995.2006.01141.x;
RA Karamatic Crew V., Mallinson G., Green C., Poole J., Uchikawa M.,
RA Tani Y., Geisen C., Oldenburg J., Daniels G.;
RT "Different inactivating mutations in the LU genes of three individuals
RT with the Lutheran-null phenotype.";
RL Transfusion 47:492-498(2007).
RN [15]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [16]
RP X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 32-262, LAMININ-ALPHA5
RP BINDING REGION, AND DISULFIDE BONDS.
RX PubMed=17638854; DOI=10.1182/blood-2007-06-094748;
RA Mankelow T.J., Burton N., Stefansdottir F.O., Spring F.A.,
RA Parsons S.F., Pedersen J.S., Oliveira C.L., Lammie D., Wess T.,
RA Mohandas N., Chasis J.A., Brady R.L., Anstee D.J.;
RT "The Laminin 511/521-binding site on the Lutheran blood group
RT glycoprotein is located at the flexible junction of Ig domains 2 and
RT 3.";
RL Blood 110:3398-3406(2007).
CC -!- FUNCTION: Laminin alpha-5 receptor. May mediate intracellular
CC signaling.
CC -!- SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane
CC protein.
CC -!- TISSUE SPECIFICITY: Wide tissue distribution (highest in the
CC pancreas and very low in brain). Closely associated with the basal
CC layer of cells in epithelia and the endothelium of blood vessel
CC walls.
CC -!- DEVELOPMENTAL STAGE: Is under developmental control in liver and
CC may also be regulated during differentiation in other tissues. Up-
CC regulated following malignant transformation in some cell types.
CC -!- PTM: Epinephrine-stimulated phosphorylation of Ser-621 by PKA
CC enhances adhesion to laminin.
CC -!- POLYMORPHISM: BCAM is responsible for the Lutheran blood group
CC system (LU) [MIM:111200]. Lutheran is a complex blood group system
CC consisting of 19 antigens. Antigens Lu(a) and Lu(b) are defined by
CC a polymorphism at position 77: Lu(a) has His-77 and Lu(b) has Arg-
CC 77.
CC -!- POLYMORPHISM: Inactivating variants in BCAM are responsible for
CC the recessive Lutheran null phenotype Lu(a-b-) of the Lutheran
CC blood group [MIM:247420]. Autosomal recessive inheritance of the
CC Lutheran null blood group phenotype is extremely rare. There is no
CC obvious associated clinical or hematologic pathology, and all
CC patients have been identified through identification of anti-Lu3
CC antibodies in their serum.
CC -!- SIMILARITY: Contains 3 Ig-like C2-type (immunoglobulin-like)
CC domains.
CC -!- SIMILARITY: Contains 2 Ig-like V-type (immunoglobulin-like)
CC domains.
CC -!- SEQUENCE CAUTION:
CC Sequence=EAW57297.1; Type=Erroneous gene model prediction;
CC -!- WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene
CC mutation database;
CC URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system;=lutheran";
CC -!- WEB RESOURCE: Name=SeattleSNPs;
CC URL="http://pga.gs.washington.edu/data/lu/";
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; X83425; CAA58449.1; -; mRNA.
DR EMBL; AY845133; AAV88096.1; -; Genomic_DNA.
DR EMBL; AC092306; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471126; EAW57297.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC050450; AAH50450.1; -; mRNA.
DR EMBL; X80026; CAA56327.1; -; mRNA.
DR EMBL; EU307108; ABY27636.1; -; Genomic_DNA.
DR EMBL; EU307109; ABY27637.1; -; Genomic_DNA.
DR PIR; I37202; I37202.
DR PIR; I38000; I38000.
DR RefSeq; NP_001013275.1; NM_001013257.2.
DR RefSeq; NP_005572.2; NM_005581.4.
DR UniGene; Hs.625725; -.
DR PDB; 2PET; X-ray; 1.70 A; A=32-262.
DR PDB; 2PF6; X-ray; 2.20 A; A/B=32-262.
DR PDBsum; 2PET; -.
DR PDBsum; 2PF6; -.
DR ProteinModelPortal; P50895; -.
DR SMR; P50895; 32-532.
DR MINT; MINT-5004331; -.
DR STRING; 9606.ENSP00000270233; -.
DR PhosphoSite; P50895; -.
DR DMDM; 92058724; -.
DR PaxDb; P50895; -.
DR PRIDE; P50895; -.
DR Ensembl; ENST00000270233; ENSP00000270233; ENSG00000187244.
DR Ensembl; ENST00000391955; ENSP00000375817; ENSG00000187244.
DR GeneID; 4059; -.
DR KEGG; hsa:4059; -.
DR UCSC; uc002ozt.2; human.
DR CTD; 4059; -.
DR GeneCards; GC19P045312; -.
DR HGNC; HGNC:6722; BCAM.
DR MIM; 111200; phenotype.
DR MIM; 247420; phenotype.
DR MIM; 612773; gene.
DR neXtProt; NX_P50895; -.
DR PharmGKB; PA30484; -.
DR eggNOG; NOG150030; -.
DR HOGENOM; HOG000113409; -.
DR InParanoid; P50895; -.
DR KO; K06578; -.
DR OMA; HYPTEHV; -.
DR OrthoDB; EOG7GBFWH; -.
DR PhylomeDB; P50895; -.
DR ChiTaRS; BCAM; human.
DR EvolutionaryTrace; P50895; -.
DR GeneWiki; BCAM; -.
DR GenomeRNAi; 4059; -.
DR NextBio; 15906; -.
DR PRO; PR:P50895; -.
DR ArrayExpress; P50895; -.
DR Bgee; P50895; -.
DR CleanEx; HS_BCAM; -.
DR Genevestigator; P50895; -.
DR GO; GO:0009897; C:external side of plasma membrane; IC:BHF-UCL.
DR GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
DR GO; GO:0043236; F:laminin binding; IMP:BHF-UCL.
DR GO; GO:0005055; F:laminin receptor activity; IMP:BHF-UCL.
DR GO; GO:0004888; F:transmembrane signaling receptor activity; TAS:ProtInc.
DR GO; GO:0007160; P:cell-matrix adhesion; IMP:BHF-UCL.
DR Gene3D; 2.60.40.10; -; 5.
DR InterPro; IPR013162; CD80_C2-set.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR003598; Ig_sub2.
DR Pfam; PF08205; C2-set_2; 1.
DR SMART; SM00409; IG; 2.
DR SMART; SM00408; IGc2; 2.
DR PROSITE; PS50835; IG_LIKE; 5.
PE 1: Evidence at protein level;
KW 3D-structure; Blood group antigen; Cell adhesion; Complete proteome;
KW Direct protein sequencing; Disulfide bond; Glycoprotein;
KW Immunoglobulin domain; Membrane; Phosphoprotein; Polymorphism;
KW Receptor; Reference proteome; Repeat; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1 31
FT CHAIN 32 628 Basal cell adhesion molecule.
FT /FTId=PRO_0000014850.
FT TOPO_DOM 32 547 Extracellular (Potential).
FT TRANSMEM 548 568 Helical; (Potential).
FT TOPO_DOM 569 628 Cytoplasmic (Potential).
FT DOMAIN 32 142 Ig-like V-type 1.
FT DOMAIN 147 257 Ig-like V-type 2.
FT DOMAIN 274 355 Ig-like C2-type 1.
FT DOMAIN 363 441 Ig-like C2-type 2.
FT DOMAIN 448 541 Ig-like C2-type 3.
FT REGION 309 312 Interaction with laminin alpha5.
FT MOD_RES 596 596 Phosphoserine; by GSK3.
FT MOD_RES 598 598 Phosphoserine; by CK2.
FT MOD_RES 621 621 Phosphoserine; by PKA.
FT CARBOHYD 321 321 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 377 377 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 383 383 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 419 419 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 439 439 N-linked (GlcNAc...).
FT DISULFID 53 125
FT DISULFID 172 237
FT DISULFID 291 337 Probable.
FT DISULFID 384 424 Probable.
FT DISULFID 473 522 Probable.
FT VARIANT 77 77 R -> H (defines the Lu(a) antigen;
FT dbSNP:rs28399653).
FT /FTId=VAR_021348.
FT VARIANT 196 196 V -> I (in dbSNP:rs28399654).
FT /FTId=VAR_021349.
FT VARIANT 204 204 M -> K (in dbSNP:rs28399656).
FT /FTId=VAR_021350.
FT VARIANT 282 282 R -> H (in dbSNP:rs9967601).
FT /FTId=VAR_021351.
FT VARIANT 381 381 V -> I (in dbSNP:rs28399626).
FT /FTId=VAR_021352.
FT VARIANT 451 451 K -> Q (in dbSNP:rs28399630).
FT /FTId=VAR_021353.
FT VARIANT 539 539 T -> A (in dbSNP:rs1135062).
FT /FTId=VAR_021354.
FT VARIANT 581 581 Q -> L (in dbSNP:rs28399659).
FT /FTId=VAR_021355.
FT MUTAGEN 621 621 S->A: Dramatically reduced cell adhesion.
FT CONFLICT 225 226 RL -> PC (in Ref. 6; CAA56327).
FT CONFLICT 355 356 EL -> DV (in Ref. 6; CAA56327).
FT CONFLICT 532 532 R -> L (in Ref. 7; ABY27636).
FT STRAND 34 36
FT STRAND 39 44
FT STRAND 49 51
FT STRAND 54 57
FT STRAND 60 69
FT STRAND 77 84
FT STRAND 87 92
FT STRAND 110 114
FT HELIX 117 119
FT STRAND 121 128
FT HELIX 130 132
FT STRAND 134 145
FT STRAND 151 154
FT STRAND 167 179
FT STRAND 182 187
FT STRAND 190 192
FT STRAND 200 210
FT STRAND 216 224
FT HELIX 228 232
FT STRAND 234 242
FT HELIX 244 246
FT STRAND 248 252
SQ SEQUENCE 628 AA; 67405 MW; C88F4F5C640C3F5B CRC64;
MEPPDAPAQA RGAPRLLLLA VLLAAHPDAQ AEVRLSVPPL VEVMRGKSVI LDCTPTGTHD
HYMLEWFLTD RSGARPRLAS AEMQGSELQV TMHDTRGRSP PYQLDSQGRL VLAEAQVGDE
RDYVCVVRAG AAGTAEATAR LNVFAKPEAT EVSPNKGTLS VMEDSAQEIA TCNSRNGNPA
PKITWYRNGQ RLEVPVEMNP EGYMTSRTVR EASGLLSLTS TLYLRLRKDD RDASFHCAAH
YSLPEGRHGR LDSPTFHLTL HYPTEHVQFW VGSPSTPAGW VREGDTVQLL CRGDGSPSPE
YTLFRLQDEQ EEVLNVNLEG NLTLEGVTRG QSGTYGCRVE DYDAADDVQL SKTLELRVAY
LDPLELSEGK VLSLPLNSSA VVNCSVHGLP TPALRWTKDS TPLGDGPMLS LSSITFDSNG
TYVCEASLPT VPVLSRTQNF TLLVQGSPEL KTAEIEPKAD GSWREGDEVT LICSARGHPD
PKLSWSQLGG SPAEPIPGRQ GWVSSSLTLK VTSALSRDGI SCEASNPHGN KRHVFHFGTV
SPQTSQAGVA VMAVAVSVGL LLLVVAVFYC VRRKGGPCCR QRREKGAPPP GEPGLSHSGS
EQPEQTGLLM GGASGGARGG SGGFGDEC
//
MIM
111200
*RECORD*
*FIELD* NO
111200
*FIELD* TI
#111200 BLOOD GROUP--LUTHERAN SYSTEM; LU
AUBERGER SYSTEM, INCLUDED; AU, INCLUDED
*FIELD* TX
read moreA number sign (#) is used with this entry because the Lutheran (Lu) and
Auberger (Au) blood group antigen systems are both encoded by the BCAM
gene (612773).
DESCRIPTION
Lutheran is a complex blood group system consisting of 19 antigens
numbered from LU1 to LU21, with 2 numbers (LU10 and LU15) declared
obsolete. Four pairs of these antigens have allelic relationships:
LU1/LU2, also known as Lu(a)/(b); LU6 and LU9; LU8 and LU14; and
LU18/LU19, also known as Au(a)/(b) (Karamatic Crew et al., 2007).
Although the Au(a) antigen was found by Salmon et al. (1961), the
antithetical antigen, Au(b), was not found until 1989 (Frandson et al.,
1989). Daniels et al. (1991) showed that the Au(a) and Au(b) antigens
belong to the Lutheran system.
For a discussion of Lutheran blood group phenotypes, see 247420.
MOLECULAR GENETICS
- Lutheran System
El Nemer et al. (1997) found that BCAM coding sequences amplified from
the genomic DNA of Lu (a+b-) or Lu (a-b+) blood donors showed a single
G-to-A transition in the gene (H77R; 612773.0001). When expressed in
Chinese hamster ovary (CHO) cells, Lu cDNAs carrying 229A or 229G
produced cell surface proteins that reacted with anti-Lu(a) or
anti-Lu(b) antibodies, respectively, showing that these nucleotides
specified the 2 major alleles of the Lutheran blood group locus.
Parsons et al. (1997) also demonstrated that the Lu(a)/Lu(b) variant is
determined by an H77R variant in the BCAM1 gene, resulting in a
substitution in immunoglobulin domain-1.
- Auberger System
Parsons et al. (1997) demonstrated that the Au(a)/Au(b) polymorphism
resulted from a variation in the G strand of domain 5 of the BCAM gene
(T539A; 612773.0002)
*FIELD* RF
1. Daniels, G. L.; Le Pennec, P. Y.; Rouger, P.; Salmon, C.; Tippett,
P.: The red cell antigens Au(a) and Au(b) belong to the Lutheran
system. Vox Sang. 60: 191-192, 1991.
2. El Nemer, W.; Rahuel, C.; Colin, Y.; Gane, P.; Cartron, J. P.;
Le Van Kim, C.: Organization of the human LU gene and molecular basis
of the Lu(a)/Lu(b) blood group polymorphism. Blood 89: 4608-4616,
1997.
3. Frandson, S.; Atkins, C. J.; Moulds, M.; Poole, J.; Crawford, M.
N.; Tippett, P.: Anti-Au(b): the antithetical antibody to anti-Au(a). Vox
Sang. 56: 54-56, 1989.
4. Karamatic Crew, V.; Mallinson, G.; Green, C.; Poole, J.; Uchikawa,
M.; Tani, Y.; Geisen, C.; Oldenburg, J.; Daniels, G.: Different inactivating
mutations in the LU genes of three individuals with the Lutheran-null
phenotype. Immunohematology 47: 492-498, 2007.
5. Parsons, S. F.; Mallinson, G.; Daniels, G. L.; Green, C. A.; Smythe,
J. S.; Anstee, D. J.: Use of domain-deletion mutants to locate Lutheran
blood group antigens to each of the five immunoglobulin superfamily
domains of the Lutheran glycoprotein: elucidation of the molecular
basis of the Lu(a)/Lu(b) and the Au(a)/Au(b) polymorphisms. Blood 89:
4219-4225, 1997.
6. Salmon, C.; Salmon, D.; Liberge, G.; Andre, R.; Tippett, P.; Sanger,
R.: Un nouvel antigene de groupe sanguin erythrocytaire present chez
80% des sujets de race blanche. Nouv. Rev. Franc. Hemat. 1: 649-661,
1961.
*FIELD* CN
Cassandra L. Kniffin - updated: 5/20/2009
Victor A. McKusick - updated: 8/16/2001
Victor A. McKusick - updated: 9/12/1997
Victor A. McKusick - updated: 8/26/1997
Moyra Smith - updated: 12/31/1996
*FIELD* CD
Victor A. McKusick: 6/4/1986
*FIELD* ED
wwang: 06/04/2009
ckniffin: 5/20/2009
carol: 8/19/2004
joanna: 3/17/2004
ckniffin: 9/24/2003
carol: 8/24/2001
mcapotos: 8/16/2001
dkim: 12/10/1998
carol: 10/21/1998
jenny: 9/19/1997
terry: 9/12/1997
jenny: 9/5/1997
terry: 8/26/1997
jenny: 1/7/1997
mark: 12/31/1996
mark: 6/29/1995
davew: 6/9/1994
warfield: 4/6/1994
mimadm: 2/11/1994
supermim: 3/16/1992
carol: 10/23/1991
*RECORD*
*FIELD* NO
111200
*FIELD* TI
#111200 BLOOD GROUP--LUTHERAN SYSTEM; LU
AUBERGER SYSTEM, INCLUDED; AU, INCLUDED
*FIELD* TX
read moreA number sign (#) is used with this entry because the Lutheran (Lu) and
Auberger (Au) blood group antigen systems are both encoded by the BCAM
gene (612773).
DESCRIPTION
Lutheran is a complex blood group system consisting of 19 antigens
numbered from LU1 to LU21, with 2 numbers (LU10 and LU15) declared
obsolete. Four pairs of these antigens have allelic relationships:
LU1/LU2, also known as Lu(a)/(b); LU6 and LU9; LU8 and LU14; and
LU18/LU19, also known as Au(a)/(b) (Karamatic Crew et al., 2007).
Although the Au(a) antigen was found by Salmon et al. (1961), the
antithetical antigen, Au(b), was not found until 1989 (Frandson et al.,
1989). Daniels et al. (1991) showed that the Au(a) and Au(b) antigens
belong to the Lutheran system.
For a discussion of Lutheran blood group phenotypes, see 247420.
MOLECULAR GENETICS
- Lutheran System
El Nemer et al. (1997) found that BCAM coding sequences amplified from
the genomic DNA of Lu (a+b-) or Lu (a-b+) blood donors showed a single
G-to-A transition in the gene (H77R; 612773.0001). When expressed in
Chinese hamster ovary (CHO) cells, Lu cDNAs carrying 229A or 229G
produced cell surface proteins that reacted with anti-Lu(a) or
anti-Lu(b) antibodies, respectively, showing that these nucleotides
specified the 2 major alleles of the Lutheran blood group locus.
Parsons et al. (1997) also demonstrated that the Lu(a)/Lu(b) variant is
determined by an H77R variant in the BCAM1 gene, resulting in a
substitution in immunoglobulin domain-1.
- Auberger System
Parsons et al. (1997) demonstrated that the Au(a)/Au(b) polymorphism
resulted from a variation in the G strand of domain 5 of the BCAM gene
(T539A; 612773.0002)
*FIELD* RF
1. Daniels, G. L.; Le Pennec, P. Y.; Rouger, P.; Salmon, C.; Tippett,
P.: The red cell antigens Au(a) and Au(b) belong to the Lutheran
system. Vox Sang. 60: 191-192, 1991.
2. El Nemer, W.; Rahuel, C.; Colin, Y.; Gane, P.; Cartron, J. P.;
Le Van Kim, C.: Organization of the human LU gene and molecular basis
of the Lu(a)/Lu(b) blood group polymorphism. Blood 89: 4608-4616,
1997.
3. Frandson, S.; Atkins, C. J.; Moulds, M.; Poole, J.; Crawford, M.
N.; Tippett, P.: Anti-Au(b): the antithetical antibody to anti-Au(a). Vox
Sang. 56: 54-56, 1989.
4. Karamatic Crew, V.; Mallinson, G.; Green, C.; Poole, J.; Uchikawa,
M.; Tani, Y.; Geisen, C.; Oldenburg, J.; Daniels, G.: Different inactivating
mutations in the LU genes of three individuals with the Lutheran-null
phenotype. Immunohematology 47: 492-498, 2007.
5. Parsons, S. F.; Mallinson, G.; Daniels, G. L.; Green, C. A.; Smythe,
J. S.; Anstee, D. J.: Use of domain-deletion mutants to locate Lutheran
blood group antigens to each of the five immunoglobulin superfamily
domains of the Lutheran glycoprotein: elucidation of the molecular
basis of the Lu(a)/Lu(b) and the Au(a)/Au(b) polymorphisms. Blood 89:
4219-4225, 1997.
6. Salmon, C.; Salmon, D.; Liberge, G.; Andre, R.; Tippett, P.; Sanger,
R.: Un nouvel antigene de groupe sanguin erythrocytaire present chez
80% des sujets de race blanche. Nouv. Rev. Franc. Hemat. 1: 649-661,
1961.
*FIELD* CN
Cassandra L. Kniffin - updated: 5/20/2009
Victor A. McKusick - updated: 8/16/2001
Victor A. McKusick - updated: 9/12/1997
Victor A. McKusick - updated: 8/26/1997
Moyra Smith - updated: 12/31/1996
*FIELD* CD
Victor A. McKusick: 6/4/1986
*FIELD* ED
wwang: 06/04/2009
ckniffin: 5/20/2009
carol: 8/19/2004
joanna: 3/17/2004
ckniffin: 9/24/2003
carol: 8/24/2001
mcapotos: 8/16/2001
dkim: 12/10/1998
carol: 10/21/1998
jenny: 9/19/1997
terry: 9/12/1997
jenny: 9/5/1997
terry: 8/26/1997
jenny: 1/7/1997
mark: 12/31/1996
mark: 6/29/1995
davew: 6/9/1994
warfield: 4/6/1994
mimadm: 2/11/1994
supermim: 3/16/1992
carol: 10/23/1991
MIM
247420
*RECORD*
*FIELD* NO
247420
*FIELD* TI
#247420 LUTHERAN NULL
;;RECESSIVE LU (a-b-) PHENOTYPE
*FIELD* TX
A number sign (#) is used with this entry because the autosomal
read morerecessive Lutheran null phenotype Lu(a-b-) of the Lutheran blood group
(111200) is caused by inactivating mutations in the BCAM gene (612773).
DESCRIPTION
Autosomal recessive inheritance of the Lutheran null blood group
phenotype is extremely rare, and has been reported in only 5
individuals. There is no obvious associated clinical or hematologic
pathology, and all patients have been identified through identification
of anti-Lu3 antibodies in their serum (Karamatic Crew et al., 2007).
The Lutheran inhibitor blood group phenotype (In(Lu); 111150) is
characterized phenotypically by the apparent absence of the Lu antigen
on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is
inherited as an autosomal dominant trait, it was initially postulated to
result from an inhibitor of the Lu antigen. However, Singleton et al.
(2008) found that the phenotype results from a mutation in the
transcription factor KLF1 that regulates expression of the BCAM gene.
These 2 forms of Lutheran absence on red blood cells can be
differentiated both by the pedigree and by serologic studies.
An X-linked recessive form (309050) has been rarely reported.
CLINICAL FEATURES
Darnborough et al. (1963) reported an English woman with recessive Lu
null. She was ascertained when transfused during pulmonary lobectomy for
tuberculosis. An anti-Lu antibody was found in her serum.
Brown et al. (1974) reported a large consanguineous family in which 3
individuals were Lutheran null. There were no phenotypic or hematologic
manifestations. Inheritance was autosomal recessive. Myhre et al. (1975)
described a brother and sister who were Lu(a-b-) and had consanguineous
parents of Japanese descent. The authors postulated that the defect
involved the Lutheran locus on chromosome 19.
Mallinson et al. (1997) identified a Japanese man with Lutheran null
phenotype ascertained during blood donation.
Karamatic Crew et al. (2004) reported a German Caucasian woman of Czech
origin who was found to be Lutheran null during surgical work-up.
Serologic studies identified an anti-Lu3 antibody.
MOLECULAR GENETICS
In a Japanese man with the Lutheran null phenotype, Mallinson et al.
(1997) identified a homozygous mutation in the BCAM gene (612773.0005).
Karamatic Crew et al. (2004) identified a homozygous mutation in the
BCAM gene (612773.0006) in a German Caucasian woman with the Lutheran
null phenotype.
In an individual with the Lutheran null blood group phenotype reported
by Darnborough et al. (1963), Karamatic Crew et al. (2007) identified
compound heterozygous mutations in the BCAM gene
(612773.0003-612773.0004).
*FIELD* RF
1. Brown, F.; Simpson, S.; Cornwall, S.; Moore, B. P. L.; Oyen, R.;
Marsh, W. L.: The recessive Lu(a-b-) phenotype: a family study. Vox
Sang. 26: 259-264, 1974.
2. Darnborough, J.; Firth, R.; Giles, C. M.; Goldsmith, K. L. G.;
Crawford, M. N.: A 'new' antibody anti-Lu(a)(b) and two further examples
of the genotype Lu(a-b-). Nature 198: 796 only, 1963.
3. Karamatic Crew, V.; Banks, J.; Poole, J.; Geisen, C.; Oldenburg,
J.; Daniels, G.: Recessive Lu-null phenotype: a new example and a
new mutation. Vox Sang. 87 (Suppl. 3): S39 only, 2004.
4. Karamatic Crew, V.; Mallinson, G.; Green, C.; Poole, J.; Uchikawa,
M.; Tani, Y.; Geisen, C.; Oldenburg, J.; Daniels, G.: Different inactivating
mutations in the LU genes of three individuals with the Lutheran-null
phenotype. Immunohematology 47: 492-498, 2007.
5. Mallinson, G.; Green, C. A.; Okubo, Y.; Daniels, G. L.: The molecular
background of recessive Lu(a-b-) phenotype in a Japanese family. Transfusion
Med. 7 (Suppl. 1): 18 only, 1997.
6. Myhre, B.; Thompson, M.; Anson, C.; Fiskin, B.; Carter, P. K.:
A further example of the recessive Lu(a-b-) phenotype. Vox Sang. 29:
66-68, 1975.
7. Singleton, B. K.; Burton, N. M.; Green, C.; Brady, R. L.; Anstee,
D. J.: Mutations in EKLF/KLF1 form the molecular basis of the rare
blood group In(Lu) phenotype. Blood 112: 2081-2088, 2008.
*FIELD* CS
INHERITANCE:
Autosomal recessive
HEMATOLOGY:
Absence of Lutheran antigen on red blood cells;
Lu(a-b-) phenotype
LABORATORY ABNORMALITIES:
Presence of serum anti-Lu3 antibodies
MISCELLANEOUS:
No phenotypic manifestations;
See also autosomal dominant Lutheran-null phenotype (111150)
MOLECULAR BASIS:
Caused by mutation in the B-cell adhesion molecule gene (BCAM, 612773.0001)
*FIELD* CN
Cassandra L. Kniffin - revised: 05/20/2009
*FIELD* CD
John F. Jackson: 6/15/1995
*FIELD* ED
ckniffin: 05/20/2009
*FIELD* CN
Cassandra L. Kniffin - updated: 5/20/2009
*FIELD* CD
Victor A. McKusick: 6/3/1986
*FIELD* ED
wwang: 06/04/2009
ckniffin: 5/20/2009
mimadm: 2/19/1994
supermim: 3/17/1992
supermim: 3/20/1990
ddp: 10/26/1989
marie: 3/25/1988
reenie: 6/25/1986
*RECORD*
*FIELD* NO
247420
*FIELD* TI
#247420 LUTHERAN NULL
;;RECESSIVE LU (a-b-) PHENOTYPE
*FIELD* TX
A number sign (#) is used with this entry because the autosomal
read morerecessive Lutheran null phenotype Lu(a-b-) of the Lutheran blood group
(111200) is caused by inactivating mutations in the BCAM gene (612773).
DESCRIPTION
Autosomal recessive inheritance of the Lutheran null blood group
phenotype is extremely rare, and has been reported in only 5
individuals. There is no obvious associated clinical or hematologic
pathology, and all patients have been identified through identification
of anti-Lu3 antibodies in their serum (Karamatic Crew et al., 2007).
The Lutheran inhibitor blood group phenotype (In(Lu); 111150) is
characterized phenotypically by the apparent absence of the Lu antigen
on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is
inherited as an autosomal dominant trait, it was initially postulated to
result from an inhibitor of the Lu antigen. However, Singleton et al.
(2008) found that the phenotype results from a mutation in the
transcription factor KLF1 that regulates expression of the BCAM gene.
These 2 forms of Lutheran absence on red blood cells can be
differentiated both by the pedigree and by serologic studies.
An X-linked recessive form (309050) has been rarely reported.
CLINICAL FEATURES
Darnborough et al. (1963) reported an English woman with recessive Lu
null. She was ascertained when transfused during pulmonary lobectomy for
tuberculosis. An anti-Lu antibody was found in her serum.
Brown et al. (1974) reported a large consanguineous family in which 3
individuals were Lutheran null. There were no phenotypic or hematologic
manifestations. Inheritance was autosomal recessive. Myhre et al. (1975)
described a brother and sister who were Lu(a-b-) and had consanguineous
parents of Japanese descent. The authors postulated that the defect
involved the Lutheran locus on chromosome 19.
Mallinson et al. (1997) identified a Japanese man with Lutheran null
phenotype ascertained during blood donation.
Karamatic Crew et al. (2004) reported a German Caucasian woman of Czech
origin who was found to be Lutheran null during surgical work-up.
Serologic studies identified an anti-Lu3 antibody.
MOLECULAR GENETICS
In a Japanese man with the Lutheran null phenotype, Mallinson et al.
(1997) identified a homozygous mutation in the BCAM gene (612773.0005).
Karamatic Crew et al. (2004) identified a homozygous mutation in the
BCAM gene (612773.0006) in a German Caucasian woman with the Lutheran
null phenotype.
In an individual with the Lutheran null blood group phenotype reported
by Darnborough et al. (1963), Karamatic Crew et al. (2007) identified
compound heterozygous mutations in the BCAM gene
(612773.0003-612773.0004).
*FIELD* RF
1. Brown, F.; Simpson, S.; Cornwall, S.; Moore, B. P. L.; Oyen, R.;
Marsh, W. L.: The recessive Lu(a-b-) phenotype: a family study. Vox
Sang. 26: 259-264, 1974.
2. Darnborough, J.; Firth, R.; Giles, C. M.; Goldsmith, K. L. G.;
Crawford, M. N.: A 'new' antibody anti-Lu(a)(b) and two further examples
of the genotype Lu(a-b-). Nature 198: 796 only, 1963.
3. Karamatic Crew, V.; Banks, J.; Poole, J.; Geisen, C.; Oldenburg,
J.; Daniels, G.: Recessive Lu-null phenotype: a new example and a
new mutation. Vox Sang. 87 (Suppl. 3): S39 only, 2004.
4. Karamatic Crew, V.; Mallinson, G.; Green, C.; Poole, J.; Uchikawa,
M.; Tani, Y.; Geisen, C.; Oldenburg, J.; Daniels, G.: Different inactivating
mutations in the LU genes of three individuals with the Lutheran-null
phenotype. Immunohematology 47: 492-498, 2007.
5. Mallinson, G.; Green, C. A.; Okubo, Y.; Daniels, G. L.: The molecular
background of recessive Lu(a-b-) phenotype in a Japanese family. Transfusion
Med. 7 (Suppl. 1): 18 only, 1997.
6. Myhre, B.; Thompson, M.; Anson, C.; Fiskin, B.; Carter, P. K.:
A further example of the recessive Lu(a-b-) phenotype. Vox Sang. 29:
66-68, 1975.
7. Singleton, B. K.; Burton, N. M.; Green, C.; Brady, R. L.; Anstee,
D. J.: Mutations in EKLF/KLF1 form the molecular basis of the rare
blood group In(Lu) phenotype. Blood 112: 2081-2088, 2008.
*FIELD* CS
INHERITANCE:
Autosomal recessive
HEMATOLOGY:
Absence of Lutheran antigen on red blood cells;
Lu(a-b-) phenotype
LABORATORY ABNORMALITIES:
Presence of serum anti-Lu3 antibodies
MISCELLANEOUS:
No phenotypic manifestations;
See also autosomal dominant Lutheran-null phenotype (111150)
MOLECULAR BASIS:
Caused by mutation in the B-cell adhesion molecule gene (BCAM, 612773.0001)
*FIELD* CN
Cassandra L. Kniffin - revised: 05/20/2009
*FIELD* CD
John F. Jackson: 6/15/1995
*FIELD* ED
ckniffin: 05/20/2009
*FIELD* CN
Cassandra L. Kniffin - updated: 5/20/2009
*FIELD* CD
Victor A. McKusick: 6/3/1986
*FIELD* ED
wwang: 06/04/2009
ckniffin: 5/20/2009
mimadm: 2/19/1994
supermim: 3/17/1992
supermim: 3/20/1990
ddp: 10/26/1989
marie: 3/25/1988
reenie: 6/25/1986
MIM
612773
*RECORD*
*FIELD* NO
612773
*FIELD* TI
*612773 BASAL CELL ADHESION MOLECULE; BCAM
;;B-CELL ADHESION MOLECULE;;
CD239;;
MSK19
read more*FIELD* TX
DESCRIPTION
The BCAM gene encodes a glycoprotein expressed on cell surfaces. It is a
member of the immunoglobulin superfamily of receptors and cell adhesion
molecules. When expressed on erythrocytes, BCAM constitutes the Lutheran
(Lu) and Auberger (Au) blood group antigens (111200) (Parsons et al.,
1997; Karamatic Crew et al., 2007).
CLONING
Parsons et al. (1995) isolated glycoproteins expressing the Lutheran
blood group antigens from human erythrocyte membranes and from human
fetal liver. They isolated cDNA clones corresponding to the protein from
a human placental lambda-gt11 library. The deduced 597-residue protein
was found to be a type I membrane protein with 5 potential
N-glycosylation sites. There were 5 disulfide-bonded, extracellular,
immunoglobulin superfamily domains (2 variable-region set and 3
constant-region set), a single hydrophobic, membrane-spanning domain,
and a cytoplasmic domain of 59 residues. The overall structure was
similar to that of the human tumor marker MUC18 (155735) and the chicken
neural adhesion molecule SC1. The extracellular domains and cytoplasmic
domain contained consensus motifs with a binding of integrin and SRC
homology 3 domains, respectively, suggesting possible receptor and
signal-transduction functions. Immunostaining of human tissues showed a
wide distribution and provided evidence that the glycoprotein is under
developmental control in liver, and may also be regulated during
differentiation in other tissues.
Rahuel et al. (1996) reported that 2 previously described cDNA clones,
the Lutheran cDNA clone described by Parsons et al. (1995) and the BCAM
cDNA clone described by Campbell et al. (1994), represented
alternatively spliced transcripts of the same gene on chromosome
19q13.2-q13.3. The structure and tissue distribution of these mRNA
spliceoforms were consistent with immunocharacterization of 2 active
glycoproteins, Lu and BCAM, in various cells. Rahuel et al. (1996) found
that the predominant isoform of the Lutheran glycoprotein in most normal
tissues is an 85-kD glycoprotein corresponding to the full-length BCAM
cDNA. However, the minor 78-kD spliceoform can also be identified in
erythrocyte membranes. The smaller isoform differs from the larger
Lutheran glycoprotein in that it lacks most of the cytoplasmic domain.
El Nemer et al. (1997) isolated the human LU gene by cloning a 20-kb
HindIII fragment from genomic DNA from an individual with Lu(a-b+).
Alternative splicing of intron 13 generated 2.5- and 4.0-kb transcript
spliceoforms encoding the long-tail and the short-tail Lu polypeptides,
respectively.
Parsons et al. (2001) cloned and characterized mouse Lu. The human and
mouse proteins share 72% sequence identity and both bind laminin-10/11
with high affinity.
GENE STRUCTURE
Parsons et al. (1997) determined that the BCAM gene contains 15 exons
and spans approximately 11 kb. El Nemer et al. (1997) reported that the
BCAM gene contains 15 exons distributed over 12.5 kb.
MAPPING
The Lutheran blood group antigen was the first autosomal linkage
demonstrated in man, by Dr. Jan Mohr (1951) in Copenhagen, using
Penrose's sib-pair method. Lutheran and Secretor (Se; see FUT2, 182100)
were known to be linked (review by Cook, 1965). FUT2 has since been
mapped to chromosome 19q.
Gedde-Dahl et al. (1984) found linkage of Se and APOE (107741), which is
on 19q13. A peak lod score of 3.3 was obtained at recombination fraction
0.08 in males and 1.36 at 0.22 in females. Linkage of APOE and Lu
yielded a lod score 4.52 in sexes combined. C3 (120700)-APOE linkage
gave a lod score of 4.0 at theta 0.18 in males but 0.04 at theta 0.45 in
females. Triple heterozygote families confirmed that APOE is on the Se
side and on the Lu side of C3. A summarizing map was given (their Figure
3).
Lewis et al. (1988) demonstrated that APOC2 (608083), Lu, and Se
constitute a tightly linked gene cluster and concluded that Lu and Se
are on chromosome 19q.
Parsons et al. (2001) mapped the mouse Lu gene to a region on chromosome
7 showing conserved synteny with human chromosome 19q13.2.
- Auberger System
Whitehouse et al. (1988) showed that the Au blood group is genetically
independent from the locus for the Kell blood group (KEL; 110900) and
the loci for C3, C6, Gc, HLA, PI, and Gm groups.
Evidence that the Auberger antigens are in the Lutheran system came from
the fact that they are located on the glycoproteins that carry Lutheran
determinants and that they show the same linkage relationships to
markers on chromosome 19 (Zelinski et al., 1990).
GENE FUNCTION
Although the Au(a) antigen was found by Salmon et al. (1961), the
antithetical antigen, Au(b), was not found until 1989 (Frandson et al.,
1989). Daniels et al. (1991) showed that the Au(a) and Au(b) antigens
belong to the Lutheran system.
Rahuel et al. (1996) noted that the BCAM antigen was first identified by
monoclonal antibodies raised against human tumor cells and was shown to
be overexpressed in ovarian carcinomas in vivo and upregulated following
malignant transformation in certain cell types.
El Nemer et al. (1997) showed that CHO cells expressing recombinant
short-tail or long-tail Lu glycoproteins reacted as well with anti-Lu as
with anti-BCAM antibodies, providing definitive proof that the Lu blood
group and BCAM antigens are carried by the same molecules.
Lutheran blood group glycoproteins are receptors for the extracellular
matrix protein laminin. Studies suggest that these glycoproteins may
contribute to vasoocclusion in sickle cell disease (603903), and sickle
cells can be shown to adhere to laminin isoforms containing the alpha-5
chain (laminin-10/11). Laminin alpha-5 (LAMA5; 601033) is present in the
subendothelium and is also a constituent of bone marrow sinusoids,
suggesting a role for the Lu/laminin interaction in erythropoiesis
(Parsons et al., 2001).
MOLECULAR GENETICS
Data on gene frequencies of allelic variants were tabulated by
Roychoudhury and Nei (1988).
- Lutheran System
El Nemer et al. (1997) found that BCAM coding sequences amplified from
the genomic DNA of Lu (a+b-) or Lu (a-b+) blood donors showed a single
G-to-A transition in the gene (H77R; 612773.0001). When expressed in
Chinese hamster ovary (CHO) cells, Lu cDNAs carrying 229A or 229G
produced cell surface proteins that reacted with anti-Lu(a) or
anti-Lu(b) antibodies, respectively, showing that these nucleotides
specified the 2 major alleles of the Lutheran blood group locus.
Parsons et al. (1997) also demonstrated that the Lu(a)/Lu(b) variant is
determined by an H77R variant in the BCAM1 gene, resulting in a
substitution in immunoglobulin domain 1.
- Auberger System
Parsons et al. (1997) demonstrated that the Au(a)/Au(b) polymorphism
resulted from a variation in the G strand of domain 5 of the BCAM gene
(T539A; 612773.0002)
- Autosomal Recessive Lutheran Null Blood Group Phenotype
In 3 unrelated patients with the autosomal recessive Lutheran null blood
group phenotype (247420), Karamatic Crew et al. (2007) identified
compound heterozygous or homozygous mutations in the BCAM gene
(612773.0003-612773.0006). None of the patients had obvious clinical
manifestations and were identified through routine serology as having
serum anti-LU3 antibodies. All mutations were truncating and affected
the extracellular domain of the Lu glycoprotein, suggesting that none of
the mutant proteins would be integrated into the cell membrane.
NOMENCLATURE
Lutheran is a complex blood group system consisting of 19 antigens
numbered from LU1 to LU21, with 2 numbers (LU10 and LU15) declared
obsolete. Four pairs of these antigens have allelic relationships:
LU1/LU2, also known as Lu(a)/(b); LU6 and LU9; LU8 and LU14; and
LU18/LU19, also known as Au(a)/(b) (Karamatic Crew et al., 2007).
*FIELD* AV
.0001
LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)
BCAM, HIS77ARG
Parsons et al. (1997) demonstrated that the Lu(a)/(b) polymorphism
(111200) results from a 252G-A transition in exon 3 of the BCAM gene,
resulting in a his77-to-arg (H77R) substitution in immunoglobulin
domain-1. The Lutheran glycoprotein of Lu(b) immunospecificity has
arginine at position 77.
El Nemer et al. (1997) reported the Lu(a)/Lu(b) polymorphism as a 229A-G
nucleotide change, resulting in a H77R substitution for the Lu(b)
allele. When expressed in Chinese hamster ovary (CHO) cells, Lu cDNAs
carrying 229A or 229G produced cell surface proteins that reacted with
anti-Lu(a) or anti-Lu(b) antibodies, respectively, showing that these
nucleotides specified the 2 major alleles of the Lutheran blood group
locus.
Karamatic Crew et al. (2007) noted that Lu(a)/(b) is also referred to as
Lu(1)/(2).
.0002
AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b)
BCAM, THR539ALA
Parsons et al. (1997) demonstrated that the Au(a)/(b) polymorphism (see
111200) of the Lutheran glycoprotein results from a 1637A-G transition
in the BCAM gene, resulting in a thr539-to-ala (T539A) substitution on
the G strand of domain 5.
Karamatic Crew et al. (2007) noted that Au(a)/(b) is also referred to as
Lu(18)/(19).
.0003
BLOOD GROUP--LUTHERAN NULL
BCAM, ARG231TER
In an English woman with the Lutheran null blood group phenotype
(247420), Karamatic Crew et al. (2007) identified compound
heterozygosity for 2 mutations in the BCAM gene: a 691C-T transition in
exon 6 resulting in an arg231-to-ter (R231X) substitution in the
extracellular second immunoglobulin domain, and a deletion of exons 3
and 4 (612773.0004). The woman had previously been reported by
Darnborough et al. (1963). There were no clinical manifestations; she
was identified through routine serology in preparation for surgery.
.0004
BLOOD GROUP--LUTHERAN NULL
BCAM, DEL EX3-4
See 612773.0003 and Karamatic Crew et al. (2007).
.0005
BLOOD GROUP--LUTHERAN NULL
BCAM, CYS237TER
In a healthy Japanese man with the Lutheran null blood group phenotype
(247420), Mallinson et al. (1997) identified a homozygous 733C-A
transversion in exon 6 of the BCAM gene, resulting in a cys237-to-ter
(C237X) substitution in the extracellular domain. He was identified
through blood donation and had no phenotypic manifestations. His parents
and brother were heterozygous for the mutation. Karamatic Crew et al.
(2007) stated that the C237X substitution resulted from a 711C-A
transversion based on numbering from the translation initiation ATG
codon.
.0006
BLOOD GROUP--LUTHERAN NULL
BCAM, ARG121TER
In a German Caucasian woman with the Lutheran null blood group phenotype
(247420), Karamatic Crew et al. (2004) identified a homozygous 361C-T
transition in exon 3 of the BCAM gene, resulting in an arg121-to-ter
(R121X) substitution in the extracellular first immunoglobulin domain.
She was identified in a surgical work-up.
*FIELD* SA
Lewis et al. (1977); Lewis et al. (1978)
*FIELD* RF
1. Campbell, I. G.; Foulkes, W. D.; Senger, G.; Trowsdale, J.; Garin-Chesa,
P.; Rettig, W. J.: Molecular cloning of the B-CAM cell surface glycoprotein
of epithelial cancers: a novel member of the immunoglobulin superfamily. Cancer
Res. 54: 5761-5765, 1994.
2. Cook, P. J. L.: The Lutheran-secretor recombination fraction in
man: a possible sex difference. Ann. Hum. Genet. 28: 393-401, 1965.
3. Daniels, G. L.; Le Pennec, P. Y.; Rouger, P.; Salmon, C.; Tippett,
P.: The red cell antigens Au(a) and Au(b) belong to the Lutheran
system. Vox Sang. 60: 191-192, 1991.
4. Darnborough, J.; Firth, R.; Giles, C. M.; Goldsmith, K. L. G.;
Crawford, M. N.: A 'new' antibody anti-Lu(a)(b) and two further examples
of the genotype Lu(a-b-). Nature 198: 796 only, 1963.
5. El Nemer, W.; Rahuel, C.; Colin, Y.; Gane, P.; Cartron, J. P.;
Le Van Kim, C.: Organization of the human LU gene and molecular basis
of the Lu(a)/Lu(b) blood group polymorphism. Blood 89: 4608-4616,
1997.
6. Frandson, S.; Atkins, C. J.; Moulds, M.; Poole, J.; Crawford, M.
N.; Tippett, P.: Anti-Au(b): the antithetical antibody to anti-Au(a). Vox
Sang. 56: 54-56, 1989.
7. Gedde-Dahl, T., Jr.; Olaisen, B.; Teisberg, P.; Wilhelmy, M. C.;
Mevag, B.; Helland, R.: The locus for apolipoprotein E (apoE) is
close to the Lutheran (Lu) blood group locus on chromosome 19. Hum.
Genet. 67: 178-182, 1984.
8. Karamatic Crew, V.; Banks, J.; Poole, J.; Geisen, C.; Oldenburg,
J.; Daniels, G.: Recessive Lu-null phenotype: a new example and a
new mutation. Vox Sang. 87 (Suppl. 3): S39 only, 2004.
9. Karamatic Crew, V.; Mallinson, G.; Green, C.; Poole, J.; Uchikawa,
M.; Tani, Y.; Geisen, C.; Oldenburg, J.; Daniels, G.: Different inactivating
mutations in the LU genes of three individuals with the Lutheran-null
phenotype. Immunohematology 47: 492-498, 2007.
10. Lewis, M.; Kaita, H.; Chown, B.; Giblett, E. R.; Anderson, J.;
Cote, G. B.: The Lutheran and Secretor loci: genetic linkage analysis. Am.
J. Hum. Genet. 29: 101-106, 1977.
11. Lewis, M.; Kaita, H.; Coghlan, G.; Philipps, S.; Belcher, E.;
McAlpine, P. J.; Coopland, G. R.; Woods, R. A.: The chromosome 19
linkage group LDLR, C3, LW, APOC2, LU, SE in man. Ann. Hum. Genet. 52:
137-144, 1988.
12. Lewis, M.; Kaita, H.; Giblett, E. R.; Anderson, J. E.: Lods for
Lu:Se and other loci. Cytogenet. Cell Genet. 22: 627-628, 1978.
13. Mallinson, G.; Green, C. A.; Okubo, Y.; Daniels, G. L.: The molecular
background of recessive Lu(a-b-) phenotype in a Japanese family. Transfusion
Med. 7 (Suppl. 1): 18 only, 1997.
14. Mohr, J.: Search for linkage between Lutheran blood group and
other hereditary characters. Acta Path. Microbiol. Scand. 28: 207-210,
1951.
15. Parsons, S. F.; Lee, G.; Spring, F. A.; Willig, T.-N.; Peters,
L. L.; Gimm, J. A.; Tanner, M. J. A.; Mohandas, N.; Anstee, D. J.;
Chasis, J. A.: Lutheran blood group glycoprotein and its newly characterized
mouse homologue specifically bind alpha-5 chain-containing human laminin
with high affinity. Blood 97: 312-320, 2001.
16. Parsons, S. F.; Mallinson, G.; Daniels, G. L.; Green, C. A.; Smythe,
J. S.; Anstee, D. J.: Use of domain-deletion mutants to locate Lutheran
blood group antigens to each of the five immunoglobulin superfamily
domains of the Lutheran glycoprotein: elucidation of the molecular
basis of the Lu(a)/Lu(b) and the Au(a)/Au(b) polymorphisms. Blood 89:
4219-4225, 1997.
17. Parsons, S. F.; Mallinson, G.; Holmes, C. H.; Houlihan, J. M.;
Simpson, K. L.; Mawby, W. J.; Spurr, N. K.; Warne, D.; Barclay, A.
N.; Anstee, D. J.: The Lutheran blood group glycoprotein, another
member of the immunoglobulin superfamily, is widely expressed in human
tissues and is developmentally regulated in human liver. Proc. Nat.
Acad. Sci. 92: 5496-5500, 1995.
18. Rahuel, C.; Le Van Kim, C.; Mattei, M. G.; Cartron, J. P.; Colin,
Y.: A unique gene encodes spliceforms of the B-cell adhesion molecule
cell surface glycoprotein of epithelial cancer and of the Lutheran
blood group glycoprotein. Blood 88: 1865-1872, 1996.
19. Roychoudhury, A. K.; Nei, M.: Human Polymorphic Genes: World
Distribution. New York: Oxford Univ. Press (pub.) 1988.
20. Salmon, C.; Salmon, D.; Liberge, G.; Andre, R.; Tippett, P.; Sanger,
R.: Un nouvel antigene de groupe sanguin erythrocytaire present chez
80% des sujets de race blanche. Nouv. Rev. Franc. Hemat. 1: 649-661,
1961.
21. Whitehouse, D. B.; Attwood, J.; Green, C.; Bruce, M.; McQuade,
M.; Tippett, P.: Inheritance and linkage data for an unusual combination
of genes (at the LKE, PI and C6 loci) in a single large sibship. Ann.
Hum. Genet. 52: 197-201, 1988.
22. Zelinski, T.; Kaita, H.; Johnson, K.; Moulds, M.: Genetic evidence
that the gene controlling Au(b) is located on chromosome 19. Vox
Sang. 58: 126-128, 1990.
*FIELD* CD
Cassandra L. Kniffin: 4/30/2009
*FIELD* ED
carol: 06/25/2009
wwang: 6/4/2009
ckniffin: 5/20/2009
*RECORD*
*FIELD* NO
612773
*FIELD* TI
*612773 BASAL CELL ADHESION MOLECULE; BCAM
;;B-CELL ADHESION MOLECULE;;
CD239;;
MSK19
read more*FIELD* TX
DESCRIPTION
The BCAM gene encodes a glycoprotein expressed on cell surfaces. It is a
member of the immunoglobulin superfamily of receptors and cell adhesion
molecules. When expressed on erythrocytes, BCAM constitutes the Lutheran
(Lu) and Auberger (Au) blood group antigens (111200) (Parsons et al.,
1997; Karamatic Crew et al., 2007).
CLONING
Parsons et al. (1995) isolated glycoproteins expressing the Lutheran
blood group antigens from human erythrocyte membranes and from human
fetal liver. They isolated cDNA clones corresponding to the protein from
a human placental lambda-gt11 library. The deduced 597-residue protein
was found to be a type I membrane protein with 5 potential
N-glycosylation sites. There were 5 disulfide-bonded, extracellular,
immunoglobulin superfamily domains (2 variable-region set and 3
constant-region set), a single hydrophobic, membrane-spanning domain,
and a cytoplasmic domain of 59 residues. The overall structure was
similar to that of the human tumor marker MUC18 (155735) and the chicken
neural adhesion molecule SC1. The extracellular domains and cytoplasmic
domain contained consensus motifs with a binding of integrin and SRC
homology 3 domains, respectively, suggesting possible receptor and
signal-transduction functions. Immunostaining of human tissues showed a
wide distribution and provided evidence that the glycoprotein is under
developmental control in liver, and may also be regulated during
differentiation in other tissues.
Rahuel et al. (1996) reported that 2 previously described cDNA clones,
the Lutheran cDNA clone described by Parsons et al. (1995) and the BCAM
cDNA clone described by Campbell et al. (1994), represented
alternatively spliced transcripts of the same gene on chromosome
19q13.2-q13.3. The structure and tissue distribution of these mRNA
spliceoforms were consistent with immunocharacterization of 2 active
glycoproteins, Lu and BCAM, in various cells. Rahuel et al. (1996) found
that the predominant isoform of the Lutheran glycoprotein in most normal
tissues is an 85-kD glycoprotein corresponding to the full-length BCAM
cDNA. However, the minor 78-kD spliceoform can also be identified in
erythrocyte membranes. The smaller isoform differs from the larger
Lutheran glycoprotein in that it lacks most of the cytoplasmic domain.
El Nemer et al. (1997) isolated the human LU gene by cloning a 20-kb
HindIII fragment from genomic DNA from an individual with Lu(a-b+).
Alternative splicing of intron 13 generated 2.5- and 4.0-kb transcript
spliceoforms encoding the long-tail and the short-tail Lu polypeptides,
respectively.
Parsons et al. (2001) cloned and characterized mouse Lu. The human and
mouse proteins share 72% sequence identity and both bind laminin-10/11
with high affinity.
GENE STRUCTURE
Parsons et al. (1997) determined that the BCAM gene contains 15 exons
and spans approximately 11 kb. El Nemer et al. (1997) reported that the
BCAM gene contains 15 exons distributed over 12.5 kb.
MAPPING
The Lutheran blood group antigen was the first autosomal linkage
demonstrated in man, by Dr. Jan Mohr (1951) in Copenhagen, using
Penrose's sib-pair method. Lutheran and Secretor (Se; see FUT2, 182100)
were known to be linked (review by Cook, 1965). FUT2 has since been
mapped to chromosome 19q.
Gedde-Dahl et al. (1984) found linkage of Se and APOE (107741), which is
on 19q13. A peak lod score of 3.3 was obtained at recombination fraction
0.08 in males and 1.36 at 0.22 in females. Linkage of APOE and Lu
yielded a lod score 4.52 in sexes combined. C3 (120700)-APOE linkage
gave a lod score of 4.0 at theta 0.18 in males but 0.04 at theta 0.45 in
females. Triple heterozygote families confirmed that APOE is on the Se
side and on the Lu side of C3. A summarizing map was given (their Figure
3).
Lewis et al. (1988) demonstrated that APOC2 (608083), Lu, and Se
constitute a tightly linked gene cluster and concluded that Lu and Se
are on chromosome 19q.
Parsons et al. (2001) mapped the mouse Lu gene to a region on chromosome
7 showing conserved synteny with human chromosome 19q13.2.
- Auberger System
Whitehouse et al. (1988) showed that the Au blood group is genetically
independent from the locus for the Kell blood group (KEL; 110900) and
the loci for C3, C6, Gc, HLA, PI, and Gm groups.
Evidence that the Auberger antigens are in the Lutheran system came from
the fact that they are located on the glycoproteins that carry Lutheran
determinants and that they show the same linkage relationships to
markers on chromosome 19 (Zelinski et al., 1990).
GENE FUNCTION
Although the Au(a) antigen was found by Salmon et al. (1961), the
antithetical antigen, Au(b), was not found until 1989 (Frandson et al.,
1989). Daniels et al. (1991) showed that the Au(a) and Au(b) antigens
belong to the Lutheran system.
Rahuel et al. (1996) noted that the BCAM antigen was first identified by
monoclonal antibodies raised against human tumor cells and was shown to
be overexpressed in ovarian carcinomas in vivo and upregulated following
malignant transformation in certain cell types.
El Nemer et al. (1997) showed that CHO cells expressing recombinant
short-tail or long-tail Lu glycoproteins reacted as well with anti-Lu as
with anti-BCAM antibodies, providing definitive proof that the Lu blood
group and BCAM antigens are carried by the same molecules.
Lutheran blood group glycoproteins are receptors for the extracellular
matrix protein laminin. Studies suggest that these glycoproteins may
contribute to vasoocclusion in sickle cell disease (603903), and sickle
cells can be shown to adhere to laminin isoforms containing the alpha-5
chain (laminin-10/11). Laminin alpha-5 (LAMA5; 601033) is present in the
subendothelium and is also a constituent of bone marrow sinusoids,
suggesting a role for the Lu/laminin interaction in erythropoiesis
(Parsons et al., 2001).
MOLECULAR GENETICS
Data on gene frequencies of allelic variants were tabulated by
Roychoudhury and Nei (1988).
- Lutheran System
El Nemer et al. (1997) found that BCAM coding sequences amplified from
the genomic DNA of Lu (a+b-) or Lu (a-b+) blood donors showed a single
G-to-A transition in the gene (H77R; 612773.0001). When expressed in
Chinese hamster ovary (CHO) cells, Lu cDNAs carrying 229A or 229G
produced cell surface proteins that reacted with anti-Lu(a) or
anti-Lu(b) antibodies, respectively, showing that these nucleotides
specified the 2 major alleles of the Lutheran blood group locus.
Parsons et al. (1997) also demonstrated that the Lu(a)/Lu(b) variant is
determined by an H77R variant in the BCAM1 gene, resulting in a
substitution in immunoglobulin domain 1.
- Auberger System
Parsons et al. (1997) demonstrated that the Au(a)/Au(b) polymorphism
resulted from a variation in the G strand of domain 5 of the BCAM gene
(T539A; 612773.0002)
- Autosomal Recessive Lutheran Null Blood Group Phenotype
In 3 unrelated patients with the autosomal recessive Lutheran null blood
group phenotype (247420), Karamatic Crew et al. (2007) identified
compound heterozygous or homozygous mutations in the BCAM gene
(612773.0003-612773.0006). None of the patients had obvious clinical
manifestations and were identified through routine serology as having
serum anti-LU3 antibodies. All mutations were truncating and affected
the extracellular domain of the Lu glycoprotein, suggesting that none of
the mutant proteins would be integrated into the cell membrane.
NOMENCLATURE
Lutheran is a complex blood group system consisting of 19 antigens
numbered from LU1 to LU21, with 2 numbers (LU10 and LU15) declared
obsolete. Four pairs of these antigens have allelic relationships:
LU1/LU2, also known as Lu(a)/(b); LU6 and LU9; LU8 and LU14; and
LU18/LU19, also known as Au(a)/(b) (Karamatic Crew et al., 2007).
*FIELD* AV
.0001
LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)
BCAM, HIS77ARG
Parsons et al. (1997) demonstrated that the Lu(a)/(b) polymorphism
(111200) results from a 252G-A transition in exon 3 of the BCAM gene,
resulting in a his77-to-arg (H77R) substitution in immunoglobulin
domain-1. The Lutheran glycoprotein of Lu(b) immunospecificity has
arginine at position 77.
El Nemer et al. (1997) reported the Lu(a)/Lu(b) polymorphism as a 229A-G
nucleotide change, resulting in a H77R substitution for the Lu(b)
allele. When expressed in Chinese hamster ovary (CHO) cells, Lu cDNAs
carrying 229A or 229G produced cell surface proteins that reacted with
anti-Lu(a) or anti-Lu(b) antibodies, respectively, showing that these
nucleotides specified the 2 major alleles of the Lutheran blood group
locus.
Karamatic Crew et al. (2007) noted that Lu(a)/(b) is also referred to as
Lu(1)/(2).
.0002
AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b)
BCAM, THR539ALA
Parsons et al. (1997) demonstrated that the Au(a)/(b) polymorphism (see
111200) of the Lutheran glycoprotein results from a 1637A-G transition
in the BCAM gene, resulting in a thr539-to-ala (T539A) substitution on
the G strand of domain 5.
Karamatic Crew et al. (2007) noted that Au(a)/(b) is also referred to as
Lu(18)/(19).
.0003
BLOOD GROUP--LUTHERAN NULL
BCAM, ARG231TER
In an English woman with the Lutheran null blood group phenotype
(247420), Karamatic Crew et al. (2007) identified compound
heterozygosity for 2 mutations in the BCAM gene: a 691C-T transition in
exon 6 resulting in an arg231-to-ter (R231X) substitution in the
extracellular second immunoglobulin domain, and a deletion of exons 3
and 4 (612773.0004). The woman had previously been reported by
Darnborough et al. (1963). There were no clinical manifestations; she
was identified through routine serology in preparation for surgery.
.0004
BLOOD GROUP--LUTHERAN NULL
BCAM, DEL EX3-4
See 612773.0003 and Karamatic Crew et al. (2007).
.0005
BLOOD GROUP--LUTHERAN NULL
BCAM, CYS237TER
In a healthy Japanese man with the Lutheran null blood group phenotype
(247420), Mallinson et al. (1997) identified a homozygous 733C-A
transversion in exon 6 of the BCAM gene, resulting in a cys237-to-ter
(C237X) substitution in the extracellular domain. He was identified
through blood donation and had no phenotypic manifestations. His parents
and brother were heterozygous for the mutation. Karamatic Crew et al.
(2007) stated that the C237X substitution resulted from a 711C-A
transversion based on numbering from the translation initiation ATG
codon.
.0006
BLOOD GROUP--LUTHERAN NULL
BCAM, ARG121TER
In a German Caucasian woman with the Lutheran null blood group phenotype
(247420), Karamatic Crew et al. (2004) identified a homozygous 361C-T
transition in exon 3 of the BCAM gene, resulting in an arg121-to-ter
(R121X) substitution in the extracellular first immunoglobulin domain.
She was identified in a surgical work-up.
*FIELD* SA
Lewis et al. (1977); Lewis et al. (1978)
*FIELD* RF
1. Campbell, I. G.; Foulkes, W. D.; Senger, G.; Trowsdale, J.; Garin-Chesa,
P.; Rettig, W. J.: Molecular cloning of the B-CAM cell surface glycoprotein
of epithelial cancers: a novel member of the immunoglobulin superfamily. Cancer
Res. 54: 5761-5765, 1994.
2. Cook, P. J. L.: The Lutheran-secretor recombination fraction in
man: a possible sex difference. Ann. Hum. Genet. 28: 393-401, 1965.
3. Daniels, G. L.; Le Pennec, P. Y.; Rouger, P.; Salmon, C.; Tippett,
P.: The red cell antigens Au(a) and Au(b) belong to the Lutheran
system. Vox Sang. 60: 191-192, 1991.
4. Darnborough, J.; Firth, R.; Giles, C. M.; Goldsmith, K. L. G.;
Crawford, M. N.: A 'new' antibody anti-Lu(a)(b) and two further examples
of the genotype Lu(a-b-). Nature 198: 796 only, 1963.
5. El Nemer, W.; Rahuel, C.; Colin, Y.; Gane, P.; Cartron, J. P.;
Le Van Kim, C.: Organization of the human LU gene and molecular basis
of the Lu(a)/Lu(b) blood group polymorphism. Blood 89: 4608-4616,
1997.
6. Frandson, S.; Atkins, C. J.; Moulds, M.; Poole, J.; Crawford, M.
N.; Tippett, P.: Anti-Au(b): the antithetical antibody to anti-Au(a). Vox
Sang. 56: 54-56, 1989.
7. Gedde-Dahl, T., Jr.; Olaisen, B.; Teisberg, P.; Wilhelmy, M. C.;
Mevag, B.; Helland, R.: The locus for apolipoprotein E (apoE) is
close to the Lutheran (Lu) blood group locus on chromosome 19. Hum.
Genet. 67: 178-182, 1984.
8. Karamatic Crew, V.; Banks, J.; Poole, J.; Geisen, C.; Oldenburg,
J.; Daniels, G.: Recessive Lu-null phenotype: a new example and a
new mutation. Vox Sang. 87 (Suppl. 3): S39 only, 2004.
9. Karamatic Crew, V.; Mallinson, G.; Green, C.; Poole, J.; Uchikawa,
M.; Tani, Y.; Geisen, C.; Oldenburg, J.; Daniels, G.: Different inactivating
mutations in the LU genes of three individuals with the Lutheran-null
phenotype. Immunohematology 47: 492-498, 2007.
10. Lewis, M.; Kaita, H.; Chown, B.; Giblett, E. R.; Anderson, J.;
Cote, G. B.: The Lutheran and Secretor loci: genetic linkage analysis. Am.
J. Hum. Genet. 29: 101-106, 1977.
11. Lewis, M.; Kaita, H.; Coghlan, G.; Philipps, S.; Belcher, E.;
McAlpine, P. J.; Coopland, G. R.; Woods, R. A.: The chromosome 19
linkage group LDLR, C3, LW, APOC2, LU, SE in man. Ann. Hum. Genet. 52:
137-144, 1988.
12. Lewis, M.; Kaita, H.; Giblett, E. R.; Anderson, J. E.: Lods for
Lu:Se and other loci. Cytogenet. Cell Genet. 22: 627-628, 1978.
13. Mallinson, G.; Green, C. A.; Okubo, Y.; Daniels, G. L.: The molecular
background of recessive Lu(a-b-) phenotype in a Japanese family. Transfusion
Med. 7 (Suppl. 1): 18 only, 1997.
14. Mohr, J.: Search for linkage between Lutheran blood group and
other hereditary characters. Acta Path. Microbiol. Scand. 28: 207-210,
1951.
15. Parsons, S. F.; Lee, G.; Spring, F. A.; Willig, T.-N.; Peters,
L. L.; Gimm, J. A.; Tanner, M. J. A.; Mohandas, N.; Anstee, D. J.;
Chasis, J. A.: Lutheran blood group glycoprotein and its newly characterized
mouse homologue specifically bind alpha-5 chain-containing human laminin
with high affinity. Blood 97: 312-320, 2001.
16. Parsons, S. F.; Mallinson, G.; Daniels, G. L.; Green, C. A.; Smythe,
J. S.; Anstee, D. J.: Use of domain-deletion mutants to locate Lutheran
blood group antigens to each of the five immunoglobulin superfamily
domains of the Lutheran glycoprotein: elucidation of the molecular
basis of the Lu(a)/Lu(b) and the Au(a)/Au(b) polymorphisms. Blood 89:
4219-4225, 1997.
17. Parsons, S. F.; Mallinson, G.; Holmes, C. H.; Houlihan, J. M.;
Simpson, K. L.; Mawby, W. J.; Spurr, N. K.; Warne, D.; Barclay, A.
N.; Anstee, D. J.: The Lutheran blood group glycoprotein, another
member of the immunoglobulin superfamily, is widely expressed in human
tissues and is developmentally regulated in human liver. Proc. Nat.
Acad. Sci. 92: 5496-5500, 1995.
18. Rahuel, C.; Le Van Kim, C.; Mattei, M. G.; Cartron, J. P.; Colin,
Y.: A unique gene encodes spliceforms of the B-cell adhesion molecule
cell surface glycoprotein of epithelial cancer and of the Lutheran
blood group glycoprotein. Blood 88: 1865-1872, 1996.
19. Roychoudhury, A. K.; Nei, M.: Human Polymorphic Genes: World
Distribution. New York: Oxford Univ. Press (pub.) 1988.
20. Salmon, C.; Salmon, D.; Liberge, G.; Andre, R.; Tippett, P.; Sanger,
R.: Un nouvel antigene de groupe sanguin erythrocytaire present chez
80% des sujets de race blanche. Nouv. Rev. Franc. Hemat. 1: 649-661,
1961.
21. Whitehouse, D. B.; Attwood, J.; Green, C.; Bruce, M.; McQuade,
M.; Tippett, P.: Inheritance and linkage data for an unusual combination
of genes (at the LKE, PI and C6 loci) in a single large sibship. Ann.
Hum. Genet. 52: 197-201, 1988.
22. Zelinski, T.; Kaita, H.; Johnson, K.; Moulds, M.: Genetic evidence
that the gene controlling Au(b) is located on chromosome 19. Vox
Sang. 58: 126-128, 1990.
*FIELD* CD
Cassandra L. Kniffin: 4/30/2009
*FIELD* ED
carol: 06/25/2009
wwang: 6/4/2009
ckniffin: 5/20/2009