title: Identification and characterization of a functional human Ig V lambda VI germline gene.
abstract: We have isolated from a human genomic library a potentially functional and distinctive germline gene, designated IGLV6S1, that encodes for light chains of the V lambda VI subgroup. An identical germline gene was cloned from fibroblasts obtained from a patient with light-chain-associated amyloidosis (AL amyloidosis) whose serum and urine contained, respectively, a monoclonal IgG lambda VI protein and a lambda VI Bence Jones protein. Isolation and characterization of cDNA cloned from the patient's bone marrow-derived monoclonal plasma cells revealed that the nucleotide and predicted protein sequences of the rearranged gene were approximately 95% and approximately 90% homologous to those of the germline gene, respectively. The finding that the transcriptional start site for lambda VI RNA synthesis was located upstream of the putative TATA-box promoter, rather than downstream as found for the V lambda II subgroup, implies that a different transcriptional machinery controls the expression of the human V lambda VI-gene family.
authors.affiliation: Department of Medicine, University of Tennessee Medical Center/Graduate School of Medicine, Knoxville 37920.
authors.forename: L Y
authors.initials: LY
authors.lastname: Ch'ang
authors.forename: C P
authors.initials: CP
authors.lastname: Yen
authors.forename: L
authors.initials: L
authors.lastname: Besl
authors.forename: M
authors.initials: M
authors.lastname: Schell
authors.forename: A
authors.initials: A
authors.lastname: Solomon
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D017931:DNA Primers / Q000737:chemistry; D015322:Gene Rearrangement, B-Lymphocyte; D005803:Genes, Immunoglobulin; D006801:Humans; D007146:Immunoglobulin lambda-Chains / Q000235:genetics*; D008969:Molecular Sequence Data; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid
chemical_list: D017931:DNA Primers; D007146:Immunoglobulin lambda-Chains