Single-nucleotide polymorphisms in the promoter region influence the expression of the human follicle-stimulating hormone receptor.

Objective: To characterize novel single-nucleotide polymorphisms (SNPs) in the human FSH receptor (FSHR) promoter region.

Design: Retrospective and basic research study.

Setting: University hospital.

Follicle-stimulating hormone receptor gene haplotype distribution in normozoospermic and azoospermic men.

The human follicle-stimulating hormone (FSH) receptor (FSHR) gene possesses single nucleotide polymorphisms (SNP) in exon 10, which influence serum FSH levels in women, but not in men. In the present study we extend our previous investigation and for the first time analyze a novel, common SNP at position -29 of the FSHR core promoter in men. The SNP in codon 680 was analyzed in 438 men with nonobstructive azoospermia and in 304 controls.

Epidermal growth factor receptor pathway substrate 8 (Eps8) expression in maturing testis.

Aim: Although epidermal growth factor receptors are expressed in the testes, whether they signal through epidermal growth factor receptor pathway substrate 8 (Eps8) is unknown. Here we evaluated the expression pattern of Eps8 in the maturing testis.

Methods: The expression of Eps8 was analysed by Northern blotting, immunocytochemistry and Western blotting in primary Sertoli cell cultures and in testicular tissue of rodents.