Bi-allelic variants in DNAH3 cause male infertility with asthenoteratozoospermia in humans and mice.

ABSTRACT:

Study question

Are there other pathogenic genes for asthenoteratozoospermia (AT)?

Summary answer

DNAH3 is a novel candidate gene for AT in humans and mice.

What is known already

AT is a major cause of male infertility. Several genes underlying AT have been reported; however, the genetic aetiology remains unknown in a majority of affected men.

Study design size duration

A total of 432 patients with AT were recruited in this study. DNAH3 mutations were identified by whole-exome sequencing (WES). Dnah3 knockout mice were generated using the genome editing tool. The morphology and motility of sperm from Dnah3 knockout mice were investigated. The entire study was conducted over 3 years.

Participants/materials setting methods

WES wa

SUBMITTER: Meng GQ 

PROVIDER: S-EPMC10834362 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature