Completing the human genome: the progress and challenge of satellite DNA assembly

被引：63

作者：

Miga, Karen H. ^{[1
]}

机构：

[1] Univ Calif Santa Cruz, Ctr Biomol Sci & Engn, Santa Cruz, CA 95064 USA

来源：

CHROMOSOME RESEARCH | 2015年 / 23卷 / 03期

关键词：

Satellite DNA; assembly; centromere; pericentromeric heterochromatin; acrocentric repeats; HUMAN-CHROMOSOMES; ORGANIZATION; DOMAINS; REGIONS; REPEAT; ARRAYS;

D O I：

10.1007/s10577-015-9488-2

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Genomic studies rely on accurate chromosome assemblies to explore sequence-based models of cell biology, evolution and biomedical disease. However, even the extensively studied human genome has not yet reached a complete, 'telomere-to-telomere', chromosome assembly. The largest assembly gaps remain in centromeric regions and acrocentric short arms, sites known to contain megabase-sized arrays of tandem repeats, or satellite DNAs. This review aims to briefly address the progress and challenges of generating correct assemblies of satellite DNA arrays. Although the focus is placed on the human genome, many concepts presented here are applicable to other genomes.

引用

页码：421 / 426

页数：6

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