Genomic study of TEX15 variants: prevalence and allelic heterogeneity in men with spermatogenic failure.

ABSTRACT: Introduction: Human spermatogenesis is a highly intricate process that requires the input of thousands of testis-specific genes. Defects in any of them at any stage of the process can have detrimental effects on sperm production and/or viability. In particular, the function of many meiotic proteins encoded by germ cell specific genes is critical for maturation of haploid spermatids and viable spermatozoa, necessary for fertilization, and is also extremely sensitive to even the slightest change in coding DNA. Methods: Here, using whole exome and genome approaches, we identified and reported novel, clinically significant variants in testis-expressed gene 15 (TEX15), in unrelated men with spermatogenic failure (SPGF). Results: TEX15 mediates double strand break rep

SUBMITTER: Qureshi S 

PROVIDER: S-EPMC10206016 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature