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首页> 外文期刊>BMC Genomics >1000 human genomes carry widespread signatures of GC biased gene conversion
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1000 human genomes carry widespread signatures of GC biased gene conversion

机译：1000个人类基因组带有GC偏向基因转换的广泛特征

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GC-Biased Gene Conversion (gBGC) is one of the important theories put forward to explain profound long-range non-randomness in nucleotide compositions along mammalian chromosomes. Nucleotide changes due to gBGC are hard to distinguish from regular mutations. Here, we present an algorithm for analysis of millions of known SNPs that detects a subset of so-called “SNP flip-over” events representing recent gBGC nucleotide changes, which occurred in previous generations via non-crossover meiotic recombination. This algorithm has been applied in a large-scale analysis of 1092 sequenced human genomes. Altogether, 56,328 regions on all autosomes have been examined, which revealed 223,955 putative gBGC cases leading to SNP flip-overs. We detected a strong bias (11.7%?±?0.2% excess) in AT-?>?GC over GC-?>?AT base pair changes within the entire set of putative gBGC cases. On average, a human gamete acquires 7 SNP flip-over events, in which one allele is replaced by its complementary allele during the process of meiotic non-crossover recombination. In each meiosis event, on average, gBGC results in replacement of 7 AT base pairs by GC base pairs, while only 6 GC pairs are replaced by AT pairs. Therefore, every human gamete is enriched by one GC pair. Happening over millions of years of evolution, this bias may be a noticeable force in changing the nucleotide composition landscape along chromosomes.
机译：基于GC的基因转换（gBGC）是提出的重要理论之一，用于解释哺乳动物染色体沿核苷酸组成的深远范围的非随机性。 gBGC引起的核苷酸变化很难与常规突变区分开。在这里，我们提出了一种用于分析数百万个已知SNP的算法，该算法可检测代表最近gBGC核苷酸变化的所谓“ SNP翻转”事件的子集，该事件在前代中通过非交叉减数分裂重组发生。该算法已应用于1092个测序的人类基因组的大规模分析。总共检查了所有常染色体上的56,328个区域，发现223,955个导致gNP的SNP翻转病例。在整个假定的gBGC病例组中，我们检测到AT-α>ΔGC相对于GC-β>ΔAT碱基对的变化存在强烈偏倚（超出11.7％？±0.2％）。平均而言，人类配子获得7个SNP翻转事件，其中一个等位基因在减数分裂非交叉重组过程中被其互补等位基因取代。在每次减数分裂事件中，平均而言，gBGC导致7个AT碱基对被GC碱基对取代，而只有6个GC对被AT对取代。因此，每个人类配子都被一对GC所丰富。发生在数百万年的进化过程中，这种偏见可能是改变沿染色体的核苷酸组成格局的引人注目的力量。

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