Identification and characterization of a functional human Ig VλVI germline gene
1994; Elsevier BV; Volume: 31; Issue: 7 Linguagem: Inglês
10.1016/0161-5890(94)90040-x
ISSN1872-9142
AutoresCh'ang Lan-Yang, Yen Chin-Ping, Linda Besl, Maria Schell, Alan Solomon,
Tópico(s)T-cell and B-cell Immunology
ResumoWe 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.
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