• PMID: 19735653
• Gene Name: GTSF1
• Condition: Required for spermatogenesis and involved in retrotransposon suppression in male germ cells
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Required for spermatogenesis and involved in retrotransposon suppression in male germ cells

Gtsf1/Cue110, a gene encoding a protein with two copies of a CHHC Zn-finger motif, is involved in spermatogenesis and retrotransposon suppression in murine testes

Yoshimura T, Toyoda S, Kuramochi-Miyagawa S, Miyazaki T, Miyazaki S, Tashiro F, Yamato E, Nakano T, Miyazaki J.

We recently reported that the Gtsf1/Cue110 gene, a member of the evolutionarily conserved UPF0224 family, is expressed predominantly in male germ cells, and that the GTSF1/CUE110 protein is localized to the cytoplasm of these cells in the adult testis. Here, to analyze the roles of the Gtsf1/Cue110 gene in spermatogenesis, we produced Gtsf1/Cue110-null mice by gene targeting. The Gtsf1/Cue110-null mice grew normally and appeared healthy; however, the males were sterile due to massive apoptotic death of their germ cells after postnatal day 14. In contrast, the null females were fertile. Detailed analyses revealed that the Gtsf1/Cue110-null male meiocytes ceased meiotic progression before the zygotene stage. Thus, the Gtsf1/Cue110 gene is essential for spermatogenesis beyond the early meiotic phase. Furthermore, the loss of the Gtsf1/Cue110 gene caused increased transcription of the long interspersed nucleotide element (Line-1) and the intracisternal A-particle (IAP) retrotransposons, accompanied by demethylation of their promoter regions. These observations indicate that Gtsf1/Cue110 is required for spermatogenesis and involved in retrotransposon suppression in male germ cells. FAU - Yoshimura, Takuji AU - Yoshimura T AD - Supply Center of Inbred Animals of Osaka University, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan. FAU - Toyoda, Shuichi AU - Toyoda S FAU - Kuramochi-Miyagawa, Satomi AU - Kuramochi-Miyagawa S FAU - Miyazaki, Tatsushi AU - Miyazaki T FAU - Miyazaki, Satsuki AU - Miyazaki S FAU - Tashiro, Fumi AU - Tashiro F FAU - Yamato, Eiji AU - Yamato E FAU - Nakano, Toru AU - Nakano T