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首页> 外文期刊>Genomics >Regions of low single-nucleotide polymorphism incidence in human and orangutan xq: deserts and recent coalescences.
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Regions of low single-nucleotide polymorphism incidence in human and orangutan xq: deserts and recent coalescences.

机译：人类和猩猩xq中单核苷酸多态性发生率低的区域：沙漠和最近的聚结。

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While scanning for single-nucleotide polymorphisms (SNPs) in the human Xq25-q28 region of CEPH families, we found six long "deserts" of low SNP incidence representing 28% of the investigated genome. One was 1.66 Mb in length. To determine whether these SNP deserts were due to reduced input of mutations or to recent coalescent events such as bottlenecks or selective sweeps, comparative sequence was determined from a female orangutan. The mean divergence was 2.9% and was not reduced in deserts compared with nondesert regions. Thus, the best explanation for the SNP deserts is recent coalescent events in humans. These events are the cause of substantial variation in human noncoding SNP incidence. In addition, the mutational spectrum in humans and orangutans was estimated as 63% AG (and CT), 17% AC (and GT), 8% CG, 4% AT, and 8% insertion/deletions. The average lifetime of a SNP destined to become fixed for a new allele between these species was estimated as 284,000 years. Copyright 2001 Academic Press.
机译：在扫描CEPH家族的人Xq25-q28区域中的单核苷酸多态性（SNP）时，我们发现了低SNP发生率的六个长“沙漠”，占所研究基因组的28％。其中一个长度为1.66 Mb。为了确定这些SNP沙漠是由于减少的突变输入还是由于最近的合并事件（例如瓶颈或选择性横扫）而引起的，从雌性猩猩中确定了比较序列。与非沙漠地区相比，沙漠中的平均差异为2.9％，并没有减少。因此，对SNP沙漠最好的解释是人类最近发生的结石事件。这些事件是人类非编码SNP发生率显着变化的原因。此外，人类和猩猩的突变谱估计为63％AG（和CT），17％AC（和GT），8％CG，4％AT和8％插入/缺失。这些物种之间注定要为新等位基因固定的SNP的平均寿命估计为284,000年。版权所有2001，学术出版社。

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