Genome-wide analysis of microsatellite repeats in humans: their abundance and density in specific genomic regions.
Genome-wide analysis of microsatellite repeats in humans: their abundance and density in specific genomic regions.
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人类中微卫星重复的全基因组分析：特定基因组区域的丰度和密度。
DOI：
10.1186/gb-2003-4-2-r13
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发表时间：
2003
期刊：
影响因子：
12.3
通讯作者：
Singh L
中科院分区：
文献类型：
--
作者：
Subramanian S;Mishra RK;Singh L
简单重复序列存在于大多数生物体中，约占人类基因组的3%。发现人类染色体上简单重复序列的密度相对均匀。三核苷酸和六核苷酸重复序列在外显子中更丰富，而其他重复序列在非编码区中更丰富。简单重复序列（SSR）存在于大多数生物中，约占人类基因组的3%。虽然越来越清楚的是，这样的重复是重要的基因组组织和功能，并可能与疾病的条件，他们的系统分析尚未报告。这是第一份研究简单重复序列（1-6个碱基对（bp））在整个人类基因组中的分布和密度的报告。发现人类染色体上SSR的密度相对均匀。然而，SSR的总体密度被发现是高的19号染色体。与内含子和基因间区域相比，三联体和六聚体在外显子区域中更占主导地位，但Y染色体除外。各种SSR的密度比较显示，三聚体和五聚体在染色体上显示出相似的模式（500- 1，000 bp/Mb），而二-四-和六-核苷酸重复显示出更高的模式（2，000 - 3，000 bp/Mb）密度。相同核苷酸的重复被发现高于其他重复类型。A、AT、AC、AAT、AAC、AAG、AGC、AAAC、AAAT、AAAG、AAGG、AGAT的重复占优势，而C、CG、ACT、ACG、AACC、AACG、AACT、AAGC、AAGT、ACCC、ACCG、ACCT、CCCG和CCGG的重复很少。所有染色体的SSR总密度相当。不同重复序列的密度差异显著。三核苷酸和六核苷酸重复序列在外显子中更丰富，而其他重复序列在非编码区中更丰富。
Simple sequence repeats are found in most organisms, and occupy about 3% of the human genome. The densities of simple sequence repeats across the human chromosomes were found to be relatively uniform. Tri- and hexa-nucleotide repeats are more abundant in exons, whereas other repeats are more abundant in non-coding regions. Simple sequence repeats (SSRs) are found in most organisms, and occupy about 3% of the human genome. Although it is becoming clear that such repeats are important in genomic organization and function and may be associated with disease conditions, their systematic analysis has not been reported. This is the first report examining the distribution and density of simple sequence repeats (1-6 base-pairs (bp)) in the entire human genome. The densities of SSRs across the human chromosomes were found to be relatively uniform. However, the overall density of SSR was found to be high in chromosome 19. Triplets and hexamers were more predominant in exonic regions compared to intronic and intergenic regions, except for chromosome Y. Comparison of densities of various SSRs revealed that whereas trimers and pentamers showed a similar pattern (500-1,000 bp/Mb) across the chromosomes, di- tetra- and hexa-nucleotide repeats showed patterns of higher (2,000-3,000 bp/Mb) density. Repeats of the same nucleotide were found to be higher than other repeat types. Repeats of A, AT, AC, AAT, AAC, AAG, AGC, AAAC, AAAT, AAAG, AAGG, AGAT predominate, whereas repeats of C, CG, ACT, ACG, AACC, AACG, AACT, AAGC, AAGT, ACCC, ACCG, ACCT, CCCG and CCGG are rare. The overall SSR density was comparable in all chromosomes. The density of different repeats, however, showed significant variation. Tri- and hexa-nucleotide repeats are more abundant in exons, whereas other repeats are more abundant in non-coding regions.
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影响因子：
64.8
作者：
Dib, C;Faure, S;Weissenbach, J
通讯作者：
Weissenbach, J
影响因子：
10.7
作者：
Primmer, CR;Ellegren, H
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Ellegren, H
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3
作者：
Moxon, ER;Wills, C
通讯作者：
Wills, C
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作者：
JURKA, J;PETHIYAGODA, C
通讯作者：
PETHIYAGODA, C
影响因子：
11.4
作者：
Kashi, Y;King, D;Soller, M
通讯作者：
Soller, M