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MutS homolog 5

MSH5, G-7, Msh5p
This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011] (from NCBI)
Top mentioned proteins: MSH4, MLH3, MLH1, MSH6, MSH2
Papers on MSH5
A Cross-Cancer Genetic Association Analysis of the DNA Repair and DNA Damage Signaling Pathways for Lung, Ovary, Prostate, Breast, and Colorectal Cancer.
Schildkraut et al., Toronto, Canada. In Cancer Epidemiol Biomarkers Prev, Jan 2016
RESULTS: We identified three susceptibility DNA repair genes, RAD51B (P < 5.09 × 10(-6)), MSH5 (P < 5.09 × 10(-6)), and BRCA2 (P = 5.70 × 10(-6)).
Exome Sequencing Analysis Reveals Variants in Primary Immunodeficiency Genes in Patients With Very Early Onset Inflammatory Bowel Disease.
Devoto et al., Kiel, Germany. In Gastroenterology, Nov 2015
Our analysis showed novel and rare variants within these genes that could contribute to the development of VEO-IBD, including rare heterozygous missense variants in IL10RA and previously unidentified variants in MSH5 and CD19.
Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men.
Sha et al., Hefei, China. In Hum Mol Genet, Nov 2015
We identified three low-frequency variants located at 6p22.2 (rs2298090 in HIST1H1E encoding p.Lys152Arg: OR = 0.30, P = 2.40 × 10(-16)) and 6p21.33 (rs200847762 in FKBPL encoding p.Pro137Leu: OR = 0.11, P = 3.77 × 10(-16); rs11754464 in MSH5: OR = 1.78,
Population-dependent contribution of the major histocompatibility complex region to schizophrenia susceptibility.
Yoshikawa et al., Saitama, Japan. In Schizophr Res, Oct 2015
The imputation results detected the highest association at rs707937 in the MSH5-SAPCD1 gene (imputed P=8.40×10(-5)).
Correlation between polymorphisms in DNA mismatch repair genes and the risk of primary hepatocellular carcinoma for the Han population in northern China.
Liu et al., China. In Scand J Gastroenterol, 2014
METHODS: Single nucleotide polymorphisms (SNPs) in the DNA MMR genes MLH3 (rs175080), PMS1 (rs5742933), PMS2 (rs1059060), MSH3 (rs26279), MSH5 (rs1150793, rs2075789) and MSH6 (rs1042821) were detected using the SNaPshot method in 250 PHC cases and in 308 patients without PHC in the Han population in northern China.
Combination Testing Using a Single MSH5 Variant alongside HLA Haplotypes Improves the Sensitivity of Predicting Coeliac Disease Risk in the Polish Population.
Ostrowski et al., Warsaw, Poland. In Plos One, 2014
The two most significant SNPs from the GWAS were rs9272346 (HLA-dependent; localized within 1 Kb of DQA1) and rs3130484 (HLA-independent; mapped to MSH5).
Genetic susceptibility to lung cancer and co-morbidities.
Fong et al., Brisbane, Australia. In J Thorac Dis, 2013
Large scale, multi-cohort GWAS of mainly Caucasian, smoking, populations have identified strong associations for lung cancer mapped to chromosomal regions 15q [nicotinic acetylcholine receptor (nAChR) subunits: CHRNA3, CHRNA5], 5p (TERT-CLPTM1L locus) and 6p (BAT3-MSH5).
RNF212 is a dosage-sensitive regulator of crossing-over during mammalian meiosis.
Hunter et al., Davis, United States. In Nat Genet, 2013
RNF212 acts at these sites to stabilize meiosis-specific recombination factors, including the MutSγ complex (MSH4-MSH5).
[Common variable immunodeficiency].
Morio, Tokyo, Japan. In Nihon Rinsho, 2012
Responsible genes identified so far include ICOS, TACI, CD19, CD20, CD21, CD81, BAFF-R, MSH5, PLCD2, and LRBA; and most of the CVID-causing genes are yet to be identified.
MutS homologue hMSH5: role in cisplatin-induced DNA damage response.
Her et al., Pullman, United States. In Mol Cancer, 2011
Study has suggested a role for hMSH5 in the processing of cisplatin-induced DSBs, and silencing of hMSH5 may provide a new means to improve the therapeutic efficacy of cisplatin.
[Common variable immunodeficiency. A clinical approach].
Espinosa-Rosales et al., Brazil. In Rev Invest Clin, 2010
Mutation on TACI, ICOS, CD19, BAFF-R, MSH5 must be ruled out for molecular diagnosis.
MSH5 is not a genetic predisposing factor for immunoglobulin A deficiency but marks the HLA-DRB1*0102 subgroup carrying susceptibility.
Núñez et al., Madrid, Spain. In Hum Immunol, 2010
The presence of the MSH5 85F allele marks the subgroup of DRB1*0102 haplotypes carrying susceptibility for selective IgA deficiency. MSH5 polymorphisms per se are not predisposing factors.
Genetic analysis of baker's yeast Msh4-Msh5 reveals a threshold crossover level for meiotic viability.
Alani et al., Ithaca, United States. In Plos Genet, 2010
Msh4 and msh5 mutants displayed reduced crossing over in meiosis but maintained wild-type spore viability.
hMSH5 is a nucleocytoplasmic shuttling protein whose stability depends on its subcellular localization.
Santucci-Darmanin et al., Nice, France. In Nucleic Acids Res, 2010
hMSH5 possesses a CRM1-dependent nuclear export signal and a nuclear localization signal that participates to its nuclear targeting.
The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia.
Xiang et al., Changsha, China. In Clin Chim Acta, 2010
There is an association of polymorphism C85T in MSH5 or C2531T in MLH3 with male infertility, specifically azoospermia or severe oligozoospermia, and interaction between these MSH5 and MLH3 polymorphisms increased the risk of developing male infertility
Common 5p15.33 and 6p21.33 variants influence lung cancer risk.
Houlston et al., United Kingdom. In Nat Genet, 2008
Pooling data with two other GWA studies (5,095 cases, 5,200 controls) and with replication in an additional 2,484 cases and 3,036 controls, we identified two newly associated risk loci mapping to 6p21.33 (rs3117582, BAT3-MSH5; P(combined) = 4.97 x 10(-10)) and 5p15.33 (rs401681, CLPTM1L; P(combined) = 7.90 x 10(-9)).
Common variable immunodeficiency in children.
Grimbacher et al., London, United Kingdom. In Curr Opin Pediatr, 2007
RECENT FINDINGS: Five genes, ICOS, CD19, TNFRSF13B, TNFRSF13C and MSH5, have been found to be mutated in patients with common variable immunodeficiency.
BLM ortholog, Sgs1, prevents aberrant crossing-over by suppressing formation of multichromatid joint molecules.
Hunter et al., Davis, United States. In Cell, 2007
Sgs1 and procrossover factors, Msh5 and Mlh3, are antagonistic since Sgs1 prevents dHJ formation in msh5 cells and sgs1 mutation alleviates crossover defects of both msh5 and mlh3 mutants.
[Homologs of MutS and MutL during mammalian meiosis].
Paquis-Flucklinger et al., Nice, France. In Med Sci (paris), 2003
During mammalian meiosis, it is likely that chromosome synapsis requires the presence of a MSH4-MSH5 heterodimer.
Mammalian MutS homologue 5 is required for chromosome pairing in meiosis.
Kucherlapati et al., New York City, United States. In Nat Genet, 1999
MSH5 (MutS homologue 5) is a member of a family of proteins known to be involved in DNA mismatch repair.
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