The XY-linker region of somatic cell PLC (phospholipase)-β, -γ, -δ and -ε isoforms confers potent catalytic inhibition, suggesting a common auto-regulatory role. Surprisingly, the sperm PLCζ XY-linker does not mediate auto-inhibition. Unlike for somatic PLCs, the absence of the PLCζ XY-linker significantly diminishes both in vitro PIP2 (phosphatidylinositol 4,5-bisphosphate) hydrolysis and in v...

BACKGROUND Chromosomal abnormalities contribute substantially to reproductive problems, but the role of environmental risk factors has received little attention. OBJECTIVES We evaluated the association of polychlorinated biphenyl (PCB) and dichlorodiphenyldichloroethylene (p,p'-DDE) exposures with sperm sex-chromosome disomy. METHODS We conducted a cross-sectional study of 192 men from subf...

Genes of the DAZ family play critical roles in germ cell development in mammals and other animals. In mice, Dazl mRNA is first observed at embryonic day 11.5 (E11.5), but previous studies using Dazl-deficient mice of mixed genetic background have largely emphasized postnatal spermatogenic defects. Using an inbred C57BL/6 background, we show that Dazl is required for embryonic development and su...

OBJECTIVE Y-chromosome gonadal dysgenesis (GD) is a rare subgroup of disorders of sexual development (DSD) which results from underdeveloped testis and may exhibit heterogenous symptoms. These patients are phenotypically classified into two groups - complete and partial, and their karyotypic description is either 46,XY GD or 45,X/46,XY GD. In this study; we aimed to evaluate the characteristics...

Gonadal dysgenesis is a condition characterized by streak gonads in subjects who present the phenotypic appearance of females. In pure gonadal dysgenesis, unlike Turner's syndrome, no associated somatic anomalies are found; the adult is of normal or above average stature and may have eunuchoidal proportions (Sohval, 1965). The term 'XY gonadal dysgenesis' refers to patients with pure gonadal dy...