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_10
Snippet: Discrepancies have also been noted regarding the functionality of IGKV1-8, for which only one coding allele is known. Genomic descriptions of this gene have revealed a 21 bp deletion in an upstream regulatory element, which had been predicted to disruption of promoter function and inhibit expression (mutation observed in the Kawasaki haplotype 28 ); however, IGKV1-8*01 has been shown to be expressed in some cases 27 . Potentially explaining this .....
Document: Discrepancies have also been noted regarding the functionality of IGKV1-8, for which only one coding allele is known. Genomic descriptions of this gene have revealed a 21 bp deletion in an upstream regulatory element, which had been predicted to disruption of promoter function and inhibit expression (mutation observed in the Kawasaki haplotype 28 ); however, IGKV1-8*01 has been shown to be expressed in some cases 27 . Potentially explaining this discrepancy, we found that the previously described IGKV1-8*01 21 bp promoter deletion was not present in the CH17 haplotype, suggesting that this germline indel variant could contribute to variation in the expression of alleles at this locus.
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