Absence of the H2AX mutations in idiopathic infertile men with spermatogenic impairment.

H2AX is a histone H2A variant and one of the evolutionarily conserved fertility factors involved in DNA repair to maintain the genomic integrity and ensure the proper meiotic process. Male H2ax mutant mice are infertile and display defective meiosis. To investigate the possible association of variations of the H2AX gene with spermatogenic impairment in humans, mutation screening of the entire coding region of this gene was carried out in 302 patients with azoospermia or severe oligospermia along with 198 normospermic controls. No mutations or other sequence variants were identified in the 500 subjects tested. This suggests that it is unlikely that the H2AX mutations are a common genetic cause of spermatogenic impairment in idiopathic infertile men.