Genetic mechanisms have been implicated as a cause of some cases of male infertility. Recently, 10 novel genes involved in human spermatogenesis were identified by microarray analysis of human testicular tissue. One of these is spermatogenesis-associated 17 (SPATA17).
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1. T. Miyamoto, A. Tsujimura, Y. Miyagawa, E. Koh, N. Sakugawa, H. Miyakawa, H. Sato, M. Namiki, A. Okuyama and K. Sengoku (2009) A single nucleotide polymorphism in SPATA17 may be a genetic risk factor for Japanese patients with meiotic arrest. Asian J Androl 11(5): 623-8.
Abstract Genetic mechanisms have been implicated as a cause of some cases of male infertility. Recently, 10 novel genes involved in human spermatogenesis were identified by microarray analysis of human testicular tissue. One of these is spermatogenesis-associated 17 (SPATA17). To investigate whether defects in the SPATA17 gene are associated with azoospermia due to meiotic arrest, a mutational analysis was conducted, in which the SPATA17 coding regions of 18 Japanese patients with this condition were sequenced. A statistical analysis was carried out that included 18 patients with meiotic arrest, 20 patients with Sertoli-cell-only syndrome (SCOS) and 96 healthy control men. No mutations were found in SPATA17. However, three coding single nucleotide polymorphisms (cSNPs PMID: [19483714]
CHAIN 1 361 Spermatogenesis-associated protein 17. /FTId=PRO_0000265933. DOMAIN 32 61 IQ 1. DOMAIN 55 84 IQ 2. DOMAIN 91 120 IQ 3. MOD_RES 180 180 Phosphoserine. VARIANT 16 16 N -> S (in dbSNP:rs34652544). /FTId=VAR_051382. Back to Top