Sequence context analysis of 8.2 million single nucleotide polymorphisms in the human genome
文献类型：期刊论文
| 作者 | Zhao ZM*1,2,3; Zhang FK2; zzhao@vcu.cdu |
| 刊名 | GENE
 |
| 出版日期 | 2006 |
| 卷号 | 366期号:2页码:316-324 |
| ISSN号 | 0378-1119 |
| 关键词 | Snps Short Sequence Cpg Dinucleotide Cpg Islands Gc Content |
| 英文摘要 | We analyzed n-mers (n=3-8) in the local environment of 8,249,446 human SNPs and compared their distribution with that in the genome reference sequences. The results revealed that the short sequences, which contained at least one CpG dinucleotide, occurred more frequently in the local SNP sequences than in the genome sequences. To exclude the hypermutability effect of the methylated CpG dinucleotides on the sequence context of SNPs, we examined the distribution patterns for each of the six categories of substitution. We observed the similar pattern (i.e., CpG-containing n-mers vs. non-CpG-containing n-mers) in SNP categories A/G, C/T and C/G but the opposite pattern in category A/T. We next identified 34,928 putative CpG islands in the human genome and located 133,591 SNPs within these islands. In the CpG islands, CpG SNPs were 3.92-fold less prevalent relative to the presence of CpG dinucleotides. Conversely, in the human genome, the frequency of CpG dinucleotides at the polymorphic sites was 6.09 times that in the genome reference sequences. These results support the previous views of mutational suppression at the CpG sites in the CpG islands and hypermutability of the methylated CpG dinucleotides that are prevalent in the non-CpG island sequences in the human genome. Our study represents a comprehensive investigation of the sequence context of SNPs in the human genome and in human CpG islands. |
| URL标识 | 查看原文 |
| 语种 | 英语 |
| 资助机构 | This project was supported by Thomas F. and Kate Miller Jeffress Memorial Trust Fund. ; This project was supported by Thomas F. and Kate Miller Jeffress Memorial Trust Fund. ; This project was supported by Thomas F. and Kate Miller Jeffress Memorial Trust Fund. ; This project was supported by Thomas F. and Kate Miller Jeffress Memorial Trust Fund. |
| 公开日期 | 2010-08-24 |
| 源URL | [http://159.226.149.42:8088/handle/152453/5369]  |
| 专题 | 昆明动物研究所_其他 |
| 通讯作者 | zzhao@vcu.cdu |
| 作者单位 | 1.Center for the Study of Biological Complexity, Virginia Commonwealth University, Richmond, VA 23284, USA 2.Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, VA 23298, USA 3.Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China |
| 推荐引用方式 GB/T 7714 | Zhao ZM*,Zhang FK,zzhao@vcu.cdu. Sequence context analysis of 8.2 million single nucleotide polymorphisms in the human genome[J]. GENE,2006,366(2):316-324. |
| APA | Zhao ZM*,Zhang FK,&zzhao@vcu.cdu.(2006).Sequence context analysis of 8.2 million single nucleotide polymorphisms in the human genome.GENE,366(2),316-324. |
| MLA | Zhao ZM*,et al."Sequence context analysis of 8.2 million single nucleotide polymorphisms in the human genome".GENE 366.2(2006):316-324. |
入库方式： OAI收割
来源：昆明动物研究所
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