A novel SEPT12 mutation, T96I, is associated with sperm head and annulus defects.

ABSTRACT: Infertility affects around 8%-12% of reproductive-aged couples and is a major health concern. Both genetic and environmental factors influence male infertility. SEPTIN12 is a crucial testis-specific gene essential for the final differentiation of male germ cells and is strongly linked to male infertility due to numerous detected mutations. The present study identified a novel SEPTIN12 ^T96I mutation that causes male infertility. Immunofluorescence staining and transmission electron microscopy (TEM) analysis of T96I sperm revealed co-localization of SEPT12 and SEPT7 in the obliquely positioned annulus. In addition, the sperm carrying the T96I mutation demonstrated large nuclear vacuoles, irregular swelling, and decondensation of the acrosomal cap. The overexpression

SUBMITTER: Chen KR 

PROVIDER: S-EPMC11756531 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature