Absence of SCAPER causes male infertility in humans and Drosophila by modulating microtubule dynamics during meiosis.

ABSTRACT:

Background

Mutation in S-phase cyclin A-associated protein rin the endoplasmic reticulum (SCAPER) have been found across ethnicities and have been shown to cause variable penetrance of an array of pathological traits, including intellectual disability, retinitis pigmentosa and ciliopathies.

Methods

Human clinical phenotyping, surgical testicular sperm extraction and testicular tissue staining. Generation and analysis of short spindle 3 (ssp3) (SCAPER orthologue) Drosophila CAS9-knockout lines. In vitro microtubule (MT) binding assayed by total internal reflection fluorescence microscopy.

Results

We show that patients homozygous for a SCAPER mutation lack SCAPER expression in spermatogonia (SPG) and are azoospermic due t

SUBMITTER: Wormser O 

PROVIDER: S-EPMC10405349 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature