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Polymorphisms in human immunoglobulin heavy chain variable genes and their upstream regions




TekijätMikocziova I, Gidoni M, Lindeman I, Peres A, Snir O, Yaari G, Sollid LM

KustantajaOXFORD UNIV PRESS

Julkaisuvuosi2020

JournalNucleic Acids Research

Tietokannassa oleva lehden nimiNUCLEIC ACIDS RESEARCH

Lehden akronyymiNUCLEIC ACIDS RES

Vuosikerta48

Aloitussivu5499

Lopetussivu5510

Sivujen määrä12

ISSN0305-1048

DOIhttps://doi.org/10.1093/nar/gkaa310


Tiivistelmä
Germline variations in immunoglobulin genes influence the repertoire of B cell receptors and antibodies, and such polymorphisms may impact disease susceptibility. However, the knowledge of the genomic variation of the immunoglobulin loci is scarce. Here, we report 25 potential novel germline IGHV alleles as inferred from rearranged naive B cell cDNA repertoires of 98 individuals. Thirteen novel alleles were selected for validation, out of which ten were successfully confirmed by targeted amplification and Sanger sequencing of non-B cell DNA. Moreover, we detected a high degree of variability upstream of the V-REGION in the 5'UTR, L-PART1 and L-PART2 sequences, and found that identical V-REGION alleles can differ in upstream sequences. Thus, we have identified a large genetic variation not only in the V-REGION but also in the upstream sequences of IGHV genes. Our findings provide a new perspective for annotating immunoglobulin repertoire sequencing data.



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