Novel Mutations in X-Linked, USP26-Induced Asthenoteratozoospermia and Male Infertility.

ABSTRACT: Male infertility is a multifactorial disease with a strong genetic background. Abnormal sperm morphologies have been found to be closely related to male infertility. Here, we conducted whole-exome sequencing in a cohort of 150 Han Chinese men with asthenoteratozoospermia. Two novel hemizygous mutations were identified in USP26, an X-linked gene preferentially expressed in the testis and encoding a deubiquitinating enzyme. These USP26 variants are extremely rare in human population genome databases and have been predicted to be deleterious by multiple bioinformatics tools. Hematoxylin-eosin staining and electron microscopy analyses of the spermatozoa from men harboring hemizygous USP26 variants showed a highly aberrant morphology and ultrastructure of the sperm heads an

SUBMITTER: Liu C 

PROVIDER: S-EPMC8307012 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature