Repetitive DNA sequence detection and its role in the human genome

被引：56
作者：
Liao, Xingyu [1 ]
Zhu, Wufei [2 ]
Zhou, Juexiao [1 ]
Li, Haoyang [1 ]
Xu, Xiaopeng [1 ]
Zhang, Bin [1 ]
Gao, Xin [1 ]
机构：
[1] King Abdullah Univ Sci & Technol KAUST, Computat Biosci Res Ctr CBRC, Comp Elect & Math Sci & Engn Div, Thuwal 23955, Saudi Arabia
[2] China Three Gorges Univ, Yichang Cent Peoples Hosp, Coll Clin Med Sci 1, Dept Endocrinol, Yichang 443000, Peoples R China
来源：
COMMUNICATIONS BIOLOGY | 2023年 / 6卷 / 01期
基金：
中国国家自然科学基金;
关键词：
HUMAN ENDOGENOUS RETROVIRUSES; REPEAT TRANSPOSABLE ELEMENTS; VARIABLE TANDEM REPEATS; LONG TERMINAL REPEATS; SVA RETROTRANSPOSONS; ALU INSERTIONS; EVOLUTION; IDENTIFICATION; TOOL; CLASSIFICATION;
D O I：
10.1038/s42003-023-05322-y
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
Repetitive DNA sequences playing critical roles in driving evolution, inducing variation, and regulating gene expression. In this review, we summarized the definition, arrangement, and structural characteristics of repeats. Besides, we introduced diverse biological functions of repeats and reviewed existing methods for automatic repeat detection, classification, and masking. Finally, we analyzed the type, structure, and regulation of repeats in the human genome and their role in the induction of complex diseases. We believe that this review will facilitate a comprehensive understanding of repeats and provide guidance for repeat annotation and in-depth exploration of its association with human diseases. This Review explores the characteristics of DNA repeats, their functional impacts, and available tools for their analysis.
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页数：21
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