2024年12月25日 · MSH5 (MutS Homolog 5) is a Protein Coding gene. Diseases associated with MSH5 include Premature Ovarian Failure 13 and Spermatogenic Failure 74. Among its related pathways are Meiosis and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include damaged DNA binding and mismatched DNA binding.

MutS protein homolog 5 is a protein that in humans is encoded by the MSH5 gene. [5] [6] [7] [8]

2022年1月3日 · We found that the homozygous Msh5 mutant (p.D486Y) male mice were infertile and the size of testes was dramatically reduced, and a large number of TUNEL-positive apoptotic cells were noted in the...

msh5 (muts同源物5）是muts家族成员之一，已知参与dna错配修复。 在之前的研究中，研究团队在一个原发性卵巢功能不全家系中发现了msh5基因的纯合错义突变（c.1459g>t, p.d487y）。本研究则利用全外测序在3个noa家系中鉴定出msh5的纯合移码截断突变和复合杂合错义突变。

A Homozygous Loss-of-Function Mutation in MSH5 Abolishes MutSgamma Axial Loading and Causes Meiotic Arrest in NOA-Affected Individuals. Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

2017年4月15日 · The homologous mutation in mice resulted in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. From sanger sequencing of MSH5 in 200 sporadic POI patients, we identified three heterozygous mutations (ENST00000375755: c.1057C > A, p.L353M; c.1459G > T, p.D487Y ...

2024年3月5日 · The human MSH5 (MutSHomolog 5) protein localizes to mitochondria and protects the mitochondrial genome from oxidative damage. hMSH5 is a nucleocytoplasmic shuttling protein whose stability depends on its subcellular localization.

This gene encodes a member of the MutS family of proteins that play critical roles in DNA mismatch repair and meiotic homologous recombination processes. Mice lacking the encoded protein are viable but sterile, with severe defects in spermatogenesis in males and complete loss of ovarian structures in females.

We show that MSH5 (MutSHomolog 5) is localized into the mitochondria of germ and somatic cells. This protein binds to mtDNA and interacts with the Twinkle helicase and the DNA polymerase gamma. hMSH5 stimulates mtDNA repair in response to DNA damage induced by oxidative stress.

2012年11月1日 · We show that MSH5 (MutS Homolog 5) is localized into the mitochondria of germ and somatic cells. This protein binds to mtDNA and interacts with the Twinkle helicase and the DNA polymerase gamma. hMSH5 stimulates mtDNA repair in response to DNA damage induced by oxidative stress.