Concerted variation of the 3' regulatory region of Ig heavy chain and Gm haplotypes across human continental populations.

摘要: Objectives The 3' regulatory region of the immunoglobulin heavy chain gene (IGH) includes HS1.2 enhancer displaying length polymorphism with four known variants. goal research was to provide an overview this variability and its evolutionary significance across human populations. Materials methods We compiled published original data on in 3,100 subjects from 26 Moreover, we imputed haplotypic arrangement 1000 Genomes Project (1KGP). In dataset, imputation could also be obtained for G1m-G3m allotype by virtue precise correspondence between serological types amino acid (and DNA) substitutions IGHG1 IGHG3. Results variant frequencies displayed similar patterns continental partitioning as those reported literature physically neighboring IGHG1-IGHG3 system. 1KGP revealed that linkage disequilibrium (LD) can explain spread joint HS1.2-IGHG1-IGHG3 associations continents within populations, stronger LD out Africa features evolutionarily stable genomic block differential expression lymphoblastoid cell lines. Discussion Strong population structuring involves at least entire 70 kb here considered, due tight which maintained HS1.2, IGHG1, IGHG3 nonrandom arrangements. This might key better understand path driven immune response capabilities, during formation pools.