ArticleCurrent genomics2013
MutS Homologues hMSH4 and hMSH5: Genetic Variations, Functions, and Implications in Human Diseases.
Article in Current genomics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 41 citations in OpenAlex.
- Is Male Infertility an Early Warning of More Serious Diseases?Endocrinology · 2026Review
- MMR Deficiency Defines Distinct Molecular Subtype of Breast Cancer with Histone Proteomic Networks.International journal of molecular sciences · 2023Article
- Looking beyond the cytogenetics in haematological malignancies: decoding the role of tandem repeats in DNA repair genes.Molecular biology reports · 2022Article
- A Homozygous Loss-of-Function Mutation inInternational journal of molecular sciences · 2022Article
- Combination of HLA-DQ2/-DQ8 Haplotypes and a Single MSH5 Gene Variant in a Polish Population of Patients with Type 1 Diabetes as a First Line Screening for Celiac Disease?Journal of clinical medicine · 2022Article
- Identification of microsatellite instability and immune-related prognostic biomarkers in colon adenocarcinoma.Frontiers in immunology · 2022Article
- BRCA Mutations in Prostate Cancer: Assessment, Implications and Treatment Considerations.International journal of molecular sciences · 2021Review
- The role of epigenetic modifications, long-range contacts, enhancers and topologically associating domains in the regulation of glioma grade-specific genes.Scientific reports · 2021Article
- Multi-Level Analyses of Genome-Wide Association Study to Reveal Significant Risk Genes and Pathways in Neuromyelitis Optica Spectrum Disorder.Frontiers in genetics · 2021Article
- Article
- Identification of novel candidate genes by exome sequencing in Tunisian familial male breast cancer patients.Molecular biology reports · 2020Article
- DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.International journal of molecular sciences · 2020Review
- Complete response to anti-PD-L1 antibody in a metastatic bladder cancer associated with novel MSH4 mutation and microsatellite instability.Journal for immunotherapy of cancer · 2020Article
- Implication of Microsatellite Instability in Chinese Cohort of Human Cancers.Cancer management and research · 2020Article
- Mismatch Repair Pathway, Genome Stability and Cancer.Frontiers in molecular biosciences · 2020Review
- Update on Lynch syndrome genomics.Familial cancer · 2016Review
- Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array.British journal of cancer · 2016Article
- Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.Gastroenterology · 2015Article
- hMSH5 Facilitates the Repair of Camptothecin-induced Double-strand Breaks through an Interaction with FANCJ.The Journal of biological chemistry · 2015Article
- Distinct Phenotypes Caused by Mutation of MSH2 in Trypanosome Insect and Mammalian Life Cycle Forms Are Associated with Parasite Adaptation to Oxidative Stress.PLoS neglected tropical diseases · 2015Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The prominence of the human mismatch repair (MMR) pathway is clearly reflected by the causal link between MMR gene mutations and the occurrence of Lynch syndrome (or HNPCC). The MMR family of proteins also carries out a plethora of diverse cellular functions beyond its primary role in MMR and homologous recombination. In fact, members of the MMR family of proteins are being increasingly recognized as critical mediators between DNA damage repair and cell survival. Thus, a better functional understanding of MMR proteins will undoubtedly aid the development of strategies to effectively enhance apoptotic signaling in response to DNA damage induced by anti-cancer therapeutics. Among the five known human MutS homologs, hMSH4 and hMSH5 form a unique heterocomplex. However, the expression profiles of the two genes are not correlated in a number of cell types, suggesting that they may function independently as well. Consistent with this, these two proteins are promiscuous and thought to play distinct roles through interacting with different binding partners. Here, we describe the gene and protein structures of eukaryotic MSH4 and MSH5 with a particular emphasis on their human homologues, and we discuss recent findings of the roles of these two genes in DNA damage response and repair. Finally, we delineate the potential links of single nucleotide polymorphism (SNP) loci of these two genes with several human diseases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.