典型文献
Recombination and mutation shape variations in the major histocompatibility complex
文献摘要：
The major histocompatibility complex(MHC)is closely associated with numerous diseases,but its high degree of polymorphism complicates the discovery of disease-associated variants.In principle,recombi-nation and de novo mutations are two critical factors responsible for MHC polymorphisms.However,direct evidence for this hypothesis is lacking.Here,we report the generation of fine-scale MHC recombination and de novo mutation maps of～5 Mb by deep sequencing(＞100×)of the MHC genome for 17 MHC recombination and 30 non-recombination Han Chinese families(a total of 190 individuals).Recombination hotspots and Han-specific breakpoints are located in close proximity at haplotype block boundaries.The average MHC de novo mutation rate is higher than the genome-wide de novo mutation rate,particularly in MHC recombinant individuals.Notably,mutation and recombination generated polymorphisms are located within and outside linkage disequilibrium regions of the MHC,respectively,and evolution of the MHC locus was mainly controlled by positive selection.These findings provide insights on the evolutionary causes of the MHC diversity and may facilitate the identification of disease-associated genetic variants.
文献关键词：
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作者姓名：
Yuying Sun;Fang Yuan;Ling Wang;Dongfa Dai;Zhijian Zhang;Fei Liang;Nan Liu;Juan Long;Xiao Zhao;Yongzhi Xi
作者机构：
Department of Immunology and National Immunoassay Laboratory,Fifth Medical Center of Chinese PLA General Hospital,Beijing 100071,China;Institute of Beijing 307 Hospital,Anhui Medical University,Hefei,Anhui 230032,China
文献出处：
引用格式：
[1]Yuying Sun;Fang Yuan;Ling Wang;Dongfa Dai;Zhijian Zhang;Fei Liang;Nan Liu;Juan Long;Xiao Zhao;Yongzhi Xi-.Recombination and mutation shape variations in the major histocompatibility complex)[J].遗传学报,2022(12):1151-1161
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AB值：
0.554049
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