A putative human infertility allele of the meiotic recombinase DMC1 does not affect fertility in mice.

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 biochemi

SUBMITTER: Tran TN 

PROVIDER: S-EPMC6216207 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature