A maternally inherited autosomal point mutation in human phospholipase C zeta (PLCζ) leads to male infertility.

ABSTRACT:

Background

Male factor and idiopathic infertility contribute significantly to global infertility, with abnormal testicular gene expression considered to be a major cause. Certain types of male infertility are caused by failure of the sperm to activate the oocyte, a process normally regulated by calcium oscillations, thought to be induced by a sperm-specific phospholipase C, PLCzeta (PLCζ). Previously, we identified a point mutation in an infertile male resulting in the substitution of histidine for proline at position 398 of the protein sequence (PLCζ(H398P)), leading to abnormal PLCζ function and infertility.

Methods and results

Here, using a combination of direct-sequencing and mini-sequencing of the PLCζ gene from the patient and his family, we report the identification o

SUBMITTER: Kashir J 

PROVIDER: S-EPMC3241606 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature