title: Analysis of the B-cell receptor B29 (CD79b) gene in familial chronic lymphocytic leukemia.
abstract: The B-cell antigen receptor (BCR) comprises membrane Igs (mIgs) and a heterodimer of Igalpha (CD79a) and Igbeta (CD79b) transmembrane proteins, encoded by the mb-1 and B29 genes, respectively. These accessory proteins are required for surface expression of mIg and BCR signaling. B cells from chronic lymphocytic leukemia (B-CLL) frequently express low to undetectable surface Ig, as well as CD79b protein. Recent work described genetic aberrations affecting B29 expression and/or function in B-CLL. Because the prevalence of CLL is increased among first degree relatives, we analyzed the B29 gene in 10 families including 2 affected members each. A few silent or replacement mutations were observed at the genomic level, which never lead to truncated CD79b protein. Both members of the same family did not harbor the same mutations. However, a single silent base change in the B29 extracellular domain, corresponding to a polymorphism, was detected on 1 allele of most patients. These results indicate that the few mutations observed in the B29 gene in these patients do not induce structural abnormalities of the CD79b protein and thus do not account for its low surface expression in B-CLL. Furthermore, genetic factors were not implicated, because identical mutations were not observed among 2 members of the same family.
authors.affiliation: Unité d'Immunohématologie et d'Immunopathologie, Institut Pasteur, Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Payelle-Brogard
authors.forename: C
authors.initials: C
authors.lastname: Magnac
authors.forename: F R
authors.initials: FR
authors.lastname: Mauro
authors.forename: F
authors.initials: F
authors.lastname: Mandelli
authors.forename: G
authors.initials: G
authors.lastname: Dighiero
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D015703:Antigens, CD / Q000235:genetics*; D051925:CD79 Antigens; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D017386:Sequence Homology, Amino Acid
chemical_list: D015703:Antigens, CD; D051925:CD79 Antigens; C497883:CD79B protein, human; D004273:DNA, Neoplasm; D007143:Immunoglobulin Heavy Chains