This report describes primary ovarian insufficiency (postulated), MOV10-related. Based on whole exome sequencing on a cohort of women showing a primary ovarian insufficiency (POI) phenotype at a young age, heterozygous variants in the MOV10 gene were identified as possible causative variants. MOV10 encodes a 5' to 3' RNA helicase that may play a role in miRNA-mediated translational repression. There are several orthologous genes in Drosophila; Dmel\armi has been assessed in the context of this disease. Multiple genetic reagents have been generated for Dmel\armi including classical amorphic and hypomorphic alleles, RNAi-targeting constructs, overexpression constructs, and alleles caused by insertional mutagenesis.
A UAS construct of tagged wild-type Hsap\MOV10 has been introduced into flies, but has not been characterized.
Drosophila females heterozygous for loss-of-function mutations of armi exhibit significantly reduced fertility; trans-heterozygotes are more severely affected. The number and structure of ovarioles appear to be normal, but the number of nurse cells is reduced. These results suggest a role of genes involved in the piRNA pathway in the POI phenotype in humans.
Recently, the paralogous human gene MOV10L1 has been implicated in spermatogenic failure (MIM:619878).
[updated Aug. 2022 by FlyBase; FBrf0222196]
Primary ovarian insufficiency is a subclass of ovarian dysfunction in which the cause is within the ovary. In most cases, premature exhaustion of the resting pool of primordial follicles occurs. The main symptom is absence of regular menstrual cycles; the disorder usually leads to sterility (De Vos, et al., 2010; pubmed:20708256).
Nonsyndromic primary ovarian insufficiency, which is characterized by amenorrhea with elevated gonadotropin levels, is observed in 1% of otherwise healthy women under the age of 40 years (summary by Wang et al., 2014; pubmed:24597873). [from MIM:615724, 2021.11.14]
MOV10 encodes a 5' to 3' RNA helicase contributing to UPF1 mRNA target degradation by translocation along 3' UTRs ; required for microRNA-mediated gene silencing by the RNA-induced silencing complex (RISC).
In Drosophila, the orthologous armi gene is involved in biogenesis of PIWI-interacting RNAs (piRNAs), which suppress transposable elements in the fly germline (FBgn0041164).
Many to many: multiple related genes in both human and Drosophila.
Moderate-scoring ortholog of human MOV10 and MOV10L1 (multiple related genes in both species). Dmel\armi shares 27-31% identity and 43-47% similarity with the human genes.
