Progress on the mechanistic research of the trinucleotide repeat instabilities underlying human neurodegenerative diseases

Ke Nao Lv; Xue Feng Pan

doi:10.16288/j.yczz.21-182

Progress on the mechanistic research of the trinucleotide repeat instabilities underlying human neurodegenerative diseases

Ke Nao Lv
, Xue Feng Pan

School of Life Science

Research output: Contribution to journal › Review article › peer-review

Abstract

三核苷酸重复DNA序列扩增或缺失不稳定性与50多种人类神经退行性疾病有关。与疾病相关的三核苷酸重复拷贝数的增加或减少,影响了特定基因的表达,或因之产生具有细胞毒性的RNA和蛋白质已成为相关疾病的共有病理机制。现有的研究表明,疾病相关的三核苷酸重复拷贝数的改变有可能起因于相关三核苷酸重复DNA序列的异常DNA复制、修复、重组以及基因转录。有关人类遗传学研究也提示,发生在疾病相关的三核苷酸重复DNA部位的异常DNA复制、修复、重组或基因转录确有可能在三核苷酸重复DNA不稳定过程中发挥着关键作用。本文根据本课题组的研究经验,综述了近年来有关疾病相关三核苷酸重复不稳定性机制的研究进展,包括碱基突变不稳定、重复单元的扩增和缺失不稳定,以助更好地理解疾病相关三核苷酸重复DNA序列不稳定性的分子机制。.

Original language	English
Pages (from-to)	835-848
Number of pages	14
Journal	Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji
Volume	43
Issue number	9
DOIs	https://doi.org/10.16288/j.yczz.21-182
Publication status	Published - 20 Sept 2021

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

RNA: DNA hybrids
expansion instability
neurodegenerative disease
non-B DNA secondary structure
trinucleotide repeats

Access to Document

10.16288/j.yczz.21-182

Cite this

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title = "Progress on the mechanistic research of the trinucleotide repeat instabilities underlying human neurodegenerative diseases",

abstract = "三核苷酸重复DNA序列扩增或缺失不稳定性与50多种人类神经退行性疾病有关。与疾病相关的三核苷酸重复拷贝数的增加或减少,影响了特定基因的表达,或因之产生具有细胞毒性的RNA和蛋白质已成为相关疾病的共有病理机制。现有的研究表明,疾病相关的三核苷酸重复拷贝数的改变有可能起因于相关三核苷酸重复DNA序列的异常DNA复制、修复、重组以及基因转录。有关人类遗传学研究也提示,发生在疾病相关的三核苷酸重复DNA部位的异常DNA复制、修复、重组或基因转录确有可能在三核苷酸重复DNA不稳定过程中发挥着关键作用。本文根据本课题组的研究经验,综述了近年来有关疾病相关三核苷酸重复不稳定性机制的研究进展,包括碱基突变不稳定、重复单元的扩增和缺失不稳定,以助更好地理解疾病相关三核苷酸重复DNA序列不稳定性的分子机制。.",

keywords = "RNA: DNA hybrids, expansion instability, neurodegenerative disease, non-B DNA secondary structure, trinucleotide repeats",

author = "Lv, \{Ke Nao\} and Pan, \{Xue Feng\}",

year = "2021",

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doi = "10.16288/j.yczz.21-182",

language = "English",

volume = "43",

pages = "835--848",

journal = "Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji",

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T1 - Progress on the mechanistic research of the trinucleotide repeat instabilities underlying human neurodegenerative diseases

AU - Lv, Ke Nao

AU - Pan, Xue Feng

PY - 2021/9/20

Y1 - 2021/9/20

N2 - 三核苷酸重复DNA序列扩增或缺失不稳定性与50多种人类神经退行性疾病有关。与疾病相关的三核苷酸重复拷贝数的增加或减少,影响了特定基因的表达,或因之产生具有细胞毒性的RNA和蛋白质已成为相关疾病的共有病理机制。现有的研究表明,疾病相关的三核苷酸重复拷贝数的改变有可能起因于相关三核苷酸重复DNA序列的异常DNA复制、修复、重组以及基因转录。有关人类遗传学研究也提示,发生在疾病相关的三核苷酸重复DNA部位的异常DNA复制、修复、重组或基因转录确有可能在三核苷酸重复DNA不稳定过程中发挥着关键作用。本文根据本课题组的研究经验,综述了近年来有关疾病相关三核苷酸重复不稳定性机制的研究进展,包括碱基突变不稳定、重复单元的扩增和缺失不稳定,以助更好地理解疾病相关三核苷酸重复DNA序列不稳定性的分子机制。.

AB - 三核苷酸重复DNA序列扩增或缺失不稳定性与50多种人类神经退行性疾病有关。与疾病相关的三核苷酸重复拷贝数的增加或减少,影响了特定基因的表达,或因之产生具有细胞毒性的RNA和蛋白质已成为相关疾病的共有病理机制。现有的研究表明,疾病相关的三核苷酸重复拷贝数的改变有可能起因于相关三核苷酸重复DNA序列的异常DNA复制、修复、重组以及基因转录。有关人类遗传学研究也提示,发生在疾病相关的三核苷酸重复DNA部位的异常DNA复制、修复、重组或基因转录确有可能在三核苷酸重复DNA不稳定过程中发挥着关键作用。本文根据本课题组的研究经验,综述了近年来有关疾病相关三核苷酸重复不稳定性机制的研究进展,包括碱基突变不稳定、重复单元的扩增和缺失不稳定,以助更好地理解疾病相关三核苷酸重复DNA序列不稳定性的分子机制。.

KW - RNA: DNA hybrids

KW - expansion instability

KW - neurodegenerative disease

KW - non-B DNA secondary structure

KW - trinucleotide repeats

UR - https://www.scopus.com/pages/publications/85120927085

U2 - 10.16288/j.yczz.21-182

DO - 10.16288/j.yczz.21-182

M3 - Review article

C2 - 34702697

AN - SCOPUS:85120927085

SN - 0253-9772

VL - 43

SP - 835

EP - 848

JO - Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji

JF - Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji

IS - 9

ER -

Progress on the mechanistic research of the trinucleotide repeat instabilities underlying human neurodegenerative diseases

Abstract

UN SDGs

Keywords

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