High-resolution patterns of meiotic recombination across the human major histocompatibility complex
High-resolution patterns of meiotic recombination across the human major histocompatibility complex
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DOI：
10.1086/342973
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发表时间：
2002-10-01
影响因子：
9.8
通讯作者：
Carrington, M
中科院分区：
文献类型：
--
作者：
Cullen, M;Perfetto, SP;Carrington, M
在人类基因组的大片段上（例如，bb101mb）的减数分裂重组事件的确定特征仍然不清楚，但它们对于建立基因组的单倍型结构和有效定位复杂性状是必不可少的。我们提出了一个高分辨率的重组图，在千碱基水平上跨越3.3 mb的间隔，包括主要组织相容性复合体（MHC）。对来自12个个体的20,031个单精子进行基因分型，在基因组间隔小至7 kb的范围内鉴定和精确定位了325条重组染色体。观察到该地区重组的几个主要特征：(1)重组率在个体之间存在显著差异；(2)强复合热点至少每0.8 Mb出现一次，但不一定均匀分布；(3)个体间重组事件的位置分布存在显著差异；(4)在热点区之间，低水平的重组在100 kb片段上相当均匀，表明存在重组热点；(5)特定序列基序与重组分布显著相关。这些数据为整个人类基因组的重组模式提供了一个合理的模型。
Definitive characteristics of meiotic recombination events over large (i.e., >1 Mb) segments of the human genome remain obscure, yet they are essential for establishing the haplotypic structure of the genome and for efficient mapping of complex traits. We present a high-resolution map of recombination at the kilobase level across a 3.3-Mb interval encompassing the major histocompatibility complex (MHC). Genotyping of 20,031 single sperm from 12 individuals resulted in the identification and fine mapping of 325 recombinant chromosomes within genomic intervals as small as 7 kb. Several principal characteristics of recombination in this region were observed: (1) rates of recombination can differ significantly between individuals; (2) intense hot spots of recombination occur at least every 0.8 Mb but are not necessarily evenly spaced; (3) distribution in the location of recombination events can differ significantly among individuals; (4) between hot spots, low levels of recombination occur fairly evenly across 100-kb segments, suggesting the presence of warm spots of recombination; and (5) specific sequence motifs associate significantly with recombination distribution. These data provide a plausible model for recombination patterns of the human genome overall.