• PMID: 12621547
• Gene Name: ZNF313
• Condition: Azoospermia, Male infertility
• Association: These data suggest that the ZNF313 may play a role in human spermatogenesis and male fertility.
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Azoospermia, Male infertility

Identification of a novel human zinc finger protein gene ZNF313

Ma YX, Zhang SZ, Hou YP, Huang XL, Wu QQ, Sun Y.

A novel human zinc finger protein gene that contains both ring finger and C(2)H(2) domain was first isolated by mRNA differential display between the testes of fertile adults and azoospermic patients followed by rapid amplification of cDNA ends (RACE). Total 6 exons of the human gene span a 17,484 bp genomic DNA sequence that was mapped to chromosome 20q13 by fluorescence in situ hybridization. The mature processed mRNA encodes a 228-amino acid protein with a C(3)HC(4) ring finger and three C(2)H(2) domains. Genomic analysis of the human gene identified two polyadenylation signals in exon 6 resulting in alternative 3'-untranslated regions. Results of Northern blot and RT-PCR of RNAs extracted from multiple tissues revealed that the gene has two transcripts of which the shorter transcript was expressed abundantly in fertile adult testes, but much less in testes of azoospermic patient, fetus as well as other human tissues. These data suggest that the gene may play a role in human spermatogenesis and male fertility. FAU - Ma, Yong-Xin AU - Ma YX AD - The Key Laboratory of Biotherapy, Ministry of Education, Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu 610041, China. FAU - Zhang, Si-Zhong AU - Zhang SZ FAU - Hou, Yi-Ping AU - Hou YP FAU - Huang, Xin-Li AU - Huang XL FAU - Wu, Qia-Qing AU - Wu QQ