DNA mismatch repair in trinucleotide repeat instability

Jinzhen Guo; Luping Chen; Guo Min Li

doi:10.1007/s11427-017-9186-7

DNA mismatch repair in trinucleotide repeat instability

Jinzhen Guo, Luping Chen, Guo Min Li

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

5 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	1087-1092
Number of pages	6
Journal	Science China Life Sciences
Volume	60
Issue number	10
DOIs	https://doi.org/10.1007/s11427-017-9186-7
State	Published - Oct 1 2017

Keywords

DNA mismatch repair
MutSβ
neurodegenerative diseases
trinucleotide repeat instability

ASJC Scopus subject areas

General Biochemistry, Genetics and Molecular Biology
General Environmental Science
General Agricultural and Biological Sciences

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10.1007/s11427-017-9186-7

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abstract = "Trinucleotide repeat expansions cause over 30 severe neuromuscular and neurodegenerative disorders, including Huntington{\textquoteright}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.",

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AU - Guo, Jinzhen

AU - Chen, Luping

AU - Li, Guo Min

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N2 - 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.

AB - 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.

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KW - MutSβ

KW - neurodegenerative diseases

KW - trinucleotide repeat instability

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DNA mismatch repair in trinucleotide repeat instability

Abstract

Keywords

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