• PMID: 20547853
• Gene Name: MOV10L1
• Condition: Plays a crucial role in male infertility
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Plays a crucial role in male infertility

MOV10L1 is necessary for protection of spermatocytes against retrotransposons by Piwi-interacting RNAs

Frost RJ, Hamra FK, Richardson JA, Qi X, Bassel-Duby R, Olson EN.

Piwi-interacting RNAs (piRNAs) comprise a broad class of small noncoding RNAs that function as an endogenous defense system against transposable elements. Here we show that the putative DExD-box helicase MOV10-like-1 (MOV10L1) is essential for silencing retrotransposons in the mouse male germline. Mov10l1 is specifically expressed in germ cells with increasing expression from gonocytes/type A spermatogonia to pachytene spermatocytes. Primary spermatocytes of Mov10l1(-/-) mice show activation of LTR and LINE-1 retrotransposons, followed by cell death, causing male infertility and a complete block of spermatogenesis at early prophase of meiosis I. Despite the early expression of Mov10l1, germline stem cell maintenance appears unaffected in Mov10l1(-/-) mice. MOV10L1 interacts with the Piwi proteins MILI and MIWI. MOV10L1 also interacts with heat shock 70-kDa protein 2 (HSPA2), a testis-enriched chaperone expressed in pachytene spermatocytes and also essential for male fertility. These studies reveal a crucial role of MOV10L1 in male fertility and piRNA-directed retrotransposon silencing in male germ cells and suggest that MOV10L1 functions as a key component of a safeguard mechanism for the genetic information in male germ cells of mammals. FAU - Frost, Robert J A AU - Frost RJ AD - Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390-9148, USA. FAU - Hamra, F Kent AU - Hamra FK FAU - Richardson, James A AU - Richardson JA FAU - Qi, Xiaoxia AU - Qi X FAU - Bassel-Duby, Rhonda AU - Bassel-Duby R