ArticleHuman molecular genetics2018
A putative human infertility allele of the meiotic recombinase DMC1 does not affect fertility in mice.
Article in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
15 citing papers in PubMed, 22 citations in OpenAlex.
- Genetic and epigenetic landscape of male infertility.Trends in genetics : TIG · 2025Review
- RAD51 and Infertility: A Review and Case-Control Study.Biochemical genetics · 2024Review
- A Human HomozygousGenes · 2024Article
- A partial deletion within the meiosis-specific sporulation domain SPO22 of Tex11 is not associated with infertility in mice.PloS one · 2024Article
- No Interference of H9 Extract on Trastuzumab Pharmacokinetics in Their Combinations.International journal of molecular sciences · 2023Article
- Identification of a missense variant of MND1 in meiotic arrest and non-obstructive azoospermia.Journal of human genetics · 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
- Selected Genetic Factors Associated with Primary Ovarian Insufficiency.International journal of molecular sciences · 2023Review
- Unravelling the genetics of non-random fertilization associated with gametic incompatibility.Scientific reports · 2022Article
- Strategies to Identify Genetic Variants Causing Infertility.Trends in molecular medicine · 2021Review
- SPATS1 (spermatogenesis-associated, serine-rich 1) is not essential for spermatogenesis and fertility in mouse.PloS one · 2021Article
- Meiotic Recombination Defects and Premature Ovarian Insufficiency.Frontiers in cell and developmental biology · 2021Review
- Variants in RABL2A causing male infertility and ciliopathy.Human molecular genetics · 2020Article
- Primary ovarian insufficiency, meiosis and DNA repair.Biomedical journal · 2020Review
- A segregating human allele of SPO11 modeled in mice disrupts timing and amounts of meiotic recombination, causing oligospermia and a decreased ovarian reserve†.Biology of reproduction · 2019Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Whole-exome or whole-genome sequencing is becoming routine in clinical situations for identifying mutations underlying presumed genetic causes of disease including infertility. While this is a powerful approach for implicating polymorphisms or de novo mutations in genes plausibly related to the phenotype, a greater challenge is to definitively prove causality. This is a crucial requisite for treatment, especially for infertility, in which validation options are limited. In this study, we created a mouse model of a putative infertility allele, DMC1M200V. DMC1 encodes a RecA homolog essential for meiotic recombination and fertility in mice. This allele was originally implicated as being responsible for the sterility of a homozygous African woman, a conclusion supported by subsequent biochemical analyses of the mutant protein and by studies of yeast with the orthologous amino acid change. Here, we found that Dmc1M200V/M200V male and female mice are fully fertile and do not exhibit any gonadal abnormalities. Detailed immunocytological analysis of meiosis revealed no defects suggestive of compromised fertility. This study serves as a cautionary tale for making conclusions about consequences of genetic variants, especially with respect to infertility, and emphasizes the importance of conducting relevant biological assays for making accurate diagnoses in the era of genomic medicine.
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Registered trials
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