Trinucleotide repeats in human genome and exome.
Trinucleotide repeats in human genome and exome.
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DOI：
10.1093/nar/gkq127
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发表时间：
2010-07
影响因子：
14.9
通讯作者：
Krzyzosiak WJ
中科院分区：
文献类型：
--
作者：
Kozlowski P;de Mezer M;Krzyzosiak WJ
三核苷酸重复序列(TnR)在遗传学上很有意义，因为它们被用作追踪基因-表型关系的标记，而且它们直接参与了许多人类遗传病。在这项研究中，我们搜索了人类基因组参考序列和注释外显子(外显子)，以寻找是否存在由六个或更多重复单位组成的不间断的三联体重复区段。生成了包含32 448个TNR和878个TNR的基因的列表，并在此提供。我们发现，一些三联体重复序列，特别是CNG，在外显子中表达过高，而CTT，ATC，AAC和AAT的表达不足。这一观察结果表明，TnRs在外显子中的出现不是随机的，而是经历了正或负的选择压力。此外，TNR的类型强烈地决定了它们在mRNA切片(ORF、UTRs)中的定位。大多数包含外显子过表达的TNR的基因与基因本体论定义的功能相关。令人惊讶的是，许多包含编码不同同源氨基酸链的TNR类型的基因组与相同的转录相关GO类别相关。我们认为TNR具有潜在的功能性遗传元件，其变异可能参与了许多常见表型的调节；因此，TNR基因的多态应该被认为是关联研究中的优先事项。
Trinucleotide repeats (TNRs) are of interest in genetics because they are used as markers for tracing genotype–phenotype relations and because they are directly involved in numerous human genetic diseases. In this study, we searched the human genome reference sequence and annotated exons (exome) for the presence of uninterrupted triplet repeat tracts composed of six or more repeated units. A list of 32 448 TNRs and 878 TNR-containing genes was generated and is provided herein. We found that some triplet repeats, specifically CNG, are overrepresented, while CTT, ATC, AAC and AAT are underrepresented in exons. This observation suggests that the occurrence of TNRs in exons is not random, but undergoes positive or negative selective pressure. Additionally, TNR types strongly determine their localization in mRNA sections (ORF, UTRs). Most genes containing exon-overrepresented TNRs are associated with gene ontology-defined functions. Surprisingly, many groups of genes that contain TNR types coding for different homo-amino acid tracts associate with the same transcription-related GO categories. We propose that TNRs have potential to be functional genetic elements and that their variation may be involved in the regulation of many common phenotypes; as such, TNR polymorphisms should be considered a priority in association studies.
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影响因子：
3.5
作者：
Dorsman, JC;Pepers, B;van Ommen, GJB
通讯作者：
van Ommen, GJB
影响因子：
6.8
作者：
Han, Yaling;Yang, Yong;Kang, Jian
通讯作者：
Kang, Jian
DOI：
10.1073/pnas.94.7.3320
发表时间：
1997-04-01
影响因子：
11.1
作者：
Giovannucci, E;Stampfer, MJ;Kantoff, PW
通讯作者：
Kantoff, PW
影响因子：
14.8
作者：
Huang, Da Wei;Sherman, Brad T.;Lempicki, Richard A.
通讯作者：
Lempicki, Richard A.
DOI：
10.1073/pnas.0706778104
发表时间：
2007-10-16
影响因子：
11.1
作者：
Gysin, Rene;Kraftsik, Rudolf;Do, Kim Q.
通讯作者：
Do, Kim Q.