ArticleNucleic acids research2008
Structural and functional analyses of the DMC1-M200V polymorphism found in the human population.
Article in Nucleic acids research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 36 citations in OpenAlex.
- The role of RAD51 regulators and variants in primary ovarian insufficiency, endometriosis, and polycystic ovary syndrome.NAR molecular medicine · 2024Review
- DMC1 and RAD51 bind FxxA and FxPP motifs of BRCA2 via two separate interfaces.Nucleic acids research · 2024Article
- RAD51 and Infertility: A Review and Case-Control Study.Biochemical genetics · 2024Review
- A Human HomozygousGenes · 2024Article
- Multimeric structure of a subfamily III haloalkane dehalogenase-like enzyme solved by combination of cryo-EM and x-ray crystallography.Protein science : a publication of the Protein Society · 2023Article
- In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency.Journal of the Endocrine Society · 2021Article
- Meiotic Recombination Defects and Premature Ovarian Insufficiency.Frontiers in cell and developmental biology · 2021Review
- Primary ovarian insufficiency, meiosis and DNA repair.Biomedical journal · 2020Review
- A putative human infertility allele of the meiotic recombinase DMC1 does not affect fertility in mice.Human molecular genetics · 2018Article
- FANCI-FANCD2 stabilizes the RAD51-DNA complex by binding RAD51 and protects the 5'-DNA end.Nucleic acids research · 2016Article
- Disruption of dmc1 Produces Abnormal Sperm in Medaka (Oryzias latipes).Scientific reports · 2016Article
- Chromatin architecture may dictate the target site for DMC1, but not for RAD51, during homologous pairing.Scientific reports · 2016Article
- Meiotic Recombination: The Essence of Heredity.Cold Spring Harbor perspectives in biology · 2015Review
- Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.American journal of human genetics · 2012Article
- DIDS, a chemical compound that inhibits RAD51-mediated homologous pairing and strand exchange.Nucleic acids research · 2009Article
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The M200V polymorphism of the human DMC1 protein, which is an essential, meiosis-specific DNA recombinase, was found in an infertile patient, raising the question of whether this homozygous human DMC1-M200V polymorphism may cause infertility by affecting the function of the human DMC1 protein. In the present study, we determined the crystal structure of the human DMC1-M200V variant in the octameric-ring form. Biochemical analyses revealed that the human DMC1-M200V variant had reduced stability, and was moderately defective in catalyzing in vitro recombination reactions. The corresponding M194V mutation introduced in the Schizosaccharomyces pombe dmc1 gene caused a significant decrease in the meiotic homologous recombination frequency. Together, these structural, biochemical and genetic results provide extensive evidence that the human DMC1-M200V mutation impairs its function, supporting the previous interpretation that this single-nucleotide polymorphism is a source of human infertility.
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