Author: Corey T Watson; Karyn Meltz Steinberg; Tina A Graves-Lindsay; Rene L Warren; Maika Malig; Jacqueline E Schein; Richard K Wilson; Rob Holt; Evan Eichler; Felix Breden
Title: Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity Document date: 2014_7_3
ID: 62gfisc6_25
Snippet: In addition to novel allelic variants within IGL and IGK coding regions, variants involving regulatory elements of two IGKV genes (IGKV1-8 and IGKV1D-13) were also identified. In both cases, regulatory elements previously associated with alleles at these loci were predicted to inhibit their expression; however, the alleles described for these genes in the CH17 haplotype were associated with regulatory region variants that would be expected to exh.....
Document: In addition to novel allelic variants within IGL and IGK coding regions, variants involving regulatory elements of two IGKV genes (IGKV1-8 and IGKV1D-13) were also identified. In both cases, regulatory elements previously associated with alleles at these loci were predicted to inhibit their expression; however, the alleles described for these genes in the CH17 haplotype were associated with regulatory region variants that would be expected to exhibit normal gene expression. The importance of such polymorphisms is that they can result in variable levels of gene expression, including the loss of genes/alleles from expressed repertoires.
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