• PMID: 16924657
• Gene Name: SPATA31A7
• Condition: Plays a role in spermatogenesis
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Plays a role in spermatogenesis

Acrosome-specific gene AEP1: identification, characterization and roles in spermatogenesis

Luk JM, Lee NP, Shum CK, Lam BY, Siu AF, Che CM, Tam PC, Cheung AN, Yang ZM, Lin YN, Matzuk MM, Lee KF, Yeung WS.

Spermatogenesis is a tightly regulated process leading to the development of spermatozoa. To elucidate the molecular spermatogenic mechanisms, we identified an acrosome-specific gene AEP1 in spermatids, which is located in rat chromosome 17p14 with a transcript size of 3,091 bp encoding a signal peptide, zinc finger-like motif, coiled-coil region, several predicted glycosylation and phosphorylation sites. Northern blot and RT-PCR analyses revealed the restricted expression of AEP1 to the testis only. In postnatal rat testes, AEP1 mRNA became detectable from postnatal 25 dpp (round spermatids) and onwards. By using in situ hybridization (ISH) and flow cytometry-fluorescent ISH, only the haploid spermatids yielded the positive AEP1 signal. Immunohistochemistry showed that AEP1 was expressed in the acrosomal cap of late-staged germ cells in rat testis, and co-localized with the acrosomal marker, peanut agglutinin. The spatial expression of AEP1 immunoreactivity in testis was conserved among diverse mammalian species (rat, pig, monkey, human). To further study its roles in spermatogenesis, we showed AEP1 and beta-actin was associated together in complex by co-immunoprecipitation in adult germ cells and by immunofluorescence assay in isolated spermatozoon. In human testes diagnosed with hypospermatogenesis, lower expression of AEP1 was observed, whereas there was no detectable signal in undescended testes. In short, AEP1 is an evolutionary-conserved acrosome-specific gene and likely functions in acrosome-cap formation. CI - (c) 2006 Wiley-Liss, Inc. FAU - Luk, John M AU - Luk JM AD - Department of Surgery, The University of Hong Kong, Jockey Club Clinical Research Center, 21 Sassoon Road, Pokfulam, Hong Kong. jmluk@hkucc.hku.hk FAU - Lee, Nikki P Y AU - Lee NP FAU - Shum, Cathy K AU - Shum CK FAU - Lam, Brian Y AU - Lam BY FAU - Siu, Annie F M AU - Siu AF FAU - Che, Chi-Ming AU - Che CM FAU - Tam, Po-Chor AU - Tam PC FAU - Cheung, Annie N Y AU - Cheung AN FAU - Yang, Z M AU - Yang ZM FAU - Lin, Yi-Nan AU - Lin YN FAU - Matzuk, Martin M AU - Matzuk MM FAU - Lee, Kai-Fai AU - Lee KF