Identification of missense DMC1 variants in males with non-obstructive azoospermia.

ABSTRACT:

Purpose

Human male infertility is a significant reproductive condition, with non-obstructive azoospermia (NOA) being the most severe form, resulting from impaired spermatogenesis. Many genetic variants have been identified as negatively impacting sperm development and maturation at multiple stages, leading to spermatogenic failure (SPGF). Here, we aim to study such variants, particularly those in the critical, highly conserved, meiosis-specific DMC1 (DNA meiotic recombinase 1) gene, to identify genetic candidates for male infertility and to strengthen DMC1's existing genotype-phenotype relationships.

Methods

We used whole exome sequencing (WES) and in silico analysis to investigate select DMC1 variants in a large cohort of infertile sporadic and familial cases (n = 3150).

SUBMITTER: Ullah N 

PROVIDER: S-EPMC12640393 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature