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PMID:9166867

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Citation

Parsons, SF, Mallinson, G, Daniels, GL, Green, CA, Smythe, JS and Anstee, DJ (1997) 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 89:4219-25

Abstract

Lutheran glycoprotein (Lu gp) has five predicted immunoglobulin superfamily (IgSF) domains. K562 cells were transfected with Lu cDNA and tested by flow cytometry with monoclonal antibodies and Lu blood group antisera. The results confirmed the identity of Lu cDNA. Deletion mutants lacking the regions encoding one or more IgSF domains were made by inverse polymerase chain reaction (PCR), expressed in K562 cells, and tested with the same antibodies. The Lu(b) and Lu5 antigens and the epitope recognized by monoclonal antibody BRIC 224 were mapped to the first, N-terminal, IgSF domain. Lu4 and Lu8 were mapped to domain 2; Lu20 to domain 3; Lu7 and BRIC 221 epitope to domain 4, and Lu13 and Au(b) to domain 5. The organization of the LU gene was determined. The region encoding the open reading frame is arranged in 15 exons extending over approximately 11 kb on chromosome 19q13.2. The Lu(a)/Lu(b) and Au(a)/Au(b) blood group polymorphisms were studied using genomic DNA from typed blood donors. The Lu(a) mutation is a base change in exon 3 (G252 to A) encoding an Arg77 (Lu(b)) to His (Lu(a)) change on the CFG face of domain 1. The Au(a)/Au(b) polymorphism is an A1637 to G substitution in exon 12 encoding a Thr539 (Au(a)) to Ala (Au(b)) change on the G strand of domain 5.

Links

PubMed

Keywords

Cell Line; Chromosome Mapping; Chromosomes, Human, Pair 19; Epitope Mapping; Gene Deletion; Genes, Immunoglobulin; Humans; Immunoglobulins/genetics; Lutheran Blood-Group System/genetics; Polymorphism, Genetic

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:BCAM

located_in

GO:0005886: plasma membrane

ECO:0000304: author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

HUMAN:BCAM

part_of

GO:0005886: plasma membrane

ECO:0000304: author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

See also

References

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