DNA mismatch repair in trinucleotide repeat instability

被引：0
|
作者：
Jinzhen Guo
Luping Chen
Guo-Min Li
机构：
[1] University of Texas Southwestern Medical Center,Department of Radiation Oncology
[2] University of Southern California Keck School of Medicine,Department of Biochemistry and Molecular Medicine, Norris Comprehensive Cancer Center
来源：
Science China Life Sciences | 2017年 / 60卷
关键词：
DNA mismatch repair; trinucleotide repeat instability; neurodegenerative diseases; MutSβ;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Trinucleotide repeat expansions cause over 30 severe neuromuscular and neurodegenerative disorders, including Huntington’s disease, myotonic dystrophy type 1, and fragile X syndrome. Although previous studies have substantially advanced the understanding of the disease biology, many key features remain unknown. DNA mismatch repair (MMR) plays a critical role in genome maintenance by removing DNA mismatches generated during DNA replication. However, MMR components, particularly mismatch recognition protein MutSβ and its interacting factors MutLα and MutLγ, have been implicated in trinucleotide repeat instability. In this review, we will discuss the roles of these key MMR proteins in promoting trinucleotide repeat instability.
引用
收藏
页码：1087 / 1092
页数：5
相关论文
共 50 条
  • [31] Drugging DNA Damage Repair Pathways for Trinucleotide Repeat Expansion Diseases
    Benn, Caroline L.
    Gibson, Karl R.
    Reynolds, David S.
    JOURNAL OF HUNTINGTONS DISEASE, 2021, 10 (01) : 203 - 220
  • [32] Two modes of microsatellite instability in human cancer: differential connection of defective DNA mismatch repair to dinucleotide repeat instability
    Oda, S
    Maehara, Y
    Ikeda, Y
    Oki, E
    Egashira, A
    Okamura, Y
    Takahashi, I
    Kakeji, Y
    Sumiyoshi, Y
    Miyashita, K
    Yamada, Y
    Zhao, Y
    Hattori, H
    Taguchi, K
    Ikeuchi, T
    Tsuzuki, T
    Sekiguchi, M
    Karran, P
    Yoshida, MA
    NUCLEIC ACIDS RESEARCH, 2005, 33 (05) : 1628 - 1636
  • [33] DNA Repeat Expansion and Mismatch Repair: A Recurrent Problem
    Fuselier, Kayla T. B.
    Grabczyk, Ed
    FASEB JOURNAL, 2017, 31
  • [34] Frequent germline mutations and somatic repeat instability in DNA mismatch-repair-deficient Caenorhabditis elegans
    Tijsterman, M
    Pothof, J
    Plasterk, RHA
    GENETICS, 2002, 161 (02) : 651 - 660
  • [35] TRINUCLEOTIDE REPEAT INSTABILITY IN HUNTINGTON'S DISEASE
    Pepers, B. A.
    den Dunnen, J. T.
    van Ommen, G-J B.
    van Roon-Mom, W. M. C.
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2010, 81 : A16 - A16
  • [36] Microsatellite instability and DNA mismatch repair in human cancer
    Karran, P
    SEMINARS IN CANCER BIOLOGY, 1996, 7 (01) : 15 - 24
  • [37] Mismatch repair-independent tandem repeat sequence instability resulting from ribonucleotide incorporation by DNA polymerase ε
    Clark, Alan B.
    Lujan, Scott A.
    Kissling, Grace E.
    Kunkel, Thomas A.
    DNA REPAIR, 2011, 10 (05) : 476 - 482
  • [38] Improper DNA secondary causes trinucleotide repeat instability in human neurologic disease.
    McMurray, CT
    Goellner, GM
    Gacy, AM
    Spiro, C
    Yao, J
    Dyer, RD
    BIOPHYSICAL JOURNAL, 1999, 76 (01) : A135 - A135
  • [39] The deoxyribose phosphate lyase of DNA polymerase β suppresses a processive DNA synthesis to prevent trinucleotide repeat instability
    Lai, Yanhao
    Weizmann, Yossi
    Liu, Yuan
    NUCLEIC ACIDS RESEARCH, 2018, 46 (17) : 8940 - 8952
  • [40] The Deoxyribose Phosphate Lyase Activity Of DNA Polymerase β Prevents Trinucleotide Repeat Instability By Suppressing DNA Slippage
    Lai, Y.
    ENVIRONMENTAL AND MOLECULAR MUTAGENESIS, 2017, 58 : S86 - S87
12345