Study findings from L.P.G. Darce et al provide new insights into ataxia telangiectasia
2009 AUG 3 - (NewsRx.com) -- "Illegitimate V(D)J-recombination in lymphoid malignancies involves rearrangements in immunoglobulin or T-cell receptor genes, and these rearrangements may play a role in oncogenic events. High frequencies of TRGV-BJ hybrid gene (rearrangement between the TRB and TRG loci at 7q35 and 7p14-15, respectively) have been detected in lymphocytes from patients with ataxia telangiectasia (AT), and also in patients with lymphoid malignancies," researchers in Cascavel, Brazil report. "Although the TRGV-BJ gene has been described only in T-lymphocytes, we previously detected the presence of TRGV-BJ hybrid gene in the genomic DNA extracted from SV40-transformed AT5BIVA fibroblasts from an AT patient. Aiming to determine whether the AT phenotype or the SV40 transformation could be responsible for the production of the hybrid gene by illegitimate V(D)J-recombination, DNA samples were extracted from primary and SV40-transformed (normal and AT) cell lines, following Nested-PCR with TRGV- and TRBJ-specific primers. The hybrid gene was only detected in SV40-transformed fibroblasts (AT-5BIVA and MRC-5). Sequence alignment of the cloned PCR products using the BLAST program confirmed that the fragments corresponded to the TRGV-BJ hybrid gene," wrote L.P.G. Darce and colleagues. The researchers concluded: "The present results indicate that the rearrangement can be produced in nonlymphoid cells, probably as a consequence of the genomic instability caused by the SV40-transformation, and independently of ATM gene mutation.." Darce and colleagues published their study in Genetica (Occurrence of TRGV-BJ hybrid gene in SV40-transformed fibroblast cell lines. Genetica, 2009;136(3):471-478). For additional information, contact L.P.G. Darce, Jardim University, CCBS, Colegiado Biology, UNIOESTE, Rua University 2069, BR-85811911 Cascavel, PR, Brazil. Publisher contact information for the journal Genetica is: Springer, Van Godewijckstraat 30, 3311 Gz Dordrecht, Netherlands. Keywords: Brazil, Cascavel, Ataxia Telangiectasia, Ataxia-telangiectasia, DNA, Dermatology, Genetics, Neurology, Telangiectasia. This article was prepared by Proteomics Weekly editors from staff and other reports. Copyright 2009, Proteomics Weekly via NewsRx.com.
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