Association of novel DNAH11 variants with asthenoteratozoospermia lead to male infertility.

ABSTRACT:

Background

Bi-allelic variants in DNAH11 have been identified as causative factors in Primary Ciliary Dyskinesia, leading to abnormal respiratory cilia. Nonetheless, the specific impact of these variants on human sperm flagellar and their involvement in male infertility remain largely unknown.

Methods

A collaborative effort involving two Chinese reproductive centers conducted a study with 975 unrelated infertile men. Whole-exome sequencing was employed for variant screening, and Sanger sequencing confirmed the identified variants. Morphological and ultrastructural analyses of sperm were conducted using Scanning Electron Microscopy and Transmission Electron Microscopy. Western Blot Analysis and Immunofluorescence Analysis were utilized to assess protein levels and localizatio

SUBMITTER: Guo S 

PROVIDER: S-EPMC11389119 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature