This report describes ovarian dysgenesis 7 (ODG7); ODG7 exhibits autosomal recessive inheritance.
In an investigation of a family with multiple cases of XX gonadal dysgenesis, a missense variant in the human gene MRPS22 was identified as a candidate causative mutation. MRPS22 encodes a component of the small 28S subunit of the mitochondrial ribosome. The human MRPS22 gene has also been implicated in combined oxidative phosphorylation deficiency 5 (MIM:611719).
There is a single orthologous gene in Drosophila, Dmel\mRpS22, for which multiple RNAi targeting constructs have been generated.
A ubiquitous knockdown of Dmel\mRpS22 is larval lethal. mRpS22 knockdown in ovarian germline cells results in agametic ovaries lacking any germline cells, including germline stem cells. In contrast, knockdown in somatic tissues of the ovary has no effect.
The human MRPS22 gene has not been introduced into flies.
[updated May 2019 by FlyBase; FBrf0222196]
Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea (pubmed:12836721). [from MIM:233300; 2019.05.06]
[OVARIAN DYSGENESIS 7; ODG7](https://omim.org/entry/618117)
[MITOCHONDRIAL RIBOSOMAL PROTEIN S22; MRPS22](https://omim.org/entry/605810)
Ovarian dysgenesis 7 is characterized by primary amenorrhea, delayed puberty, elevated gonadotropic hormones, and small uterus and ovaries. Ovarian histology shows fibrotic ovaries without follicles. [from MIM:618117; 2019.05.06]
Evidence indicates that ovarian dysgenesis 7 (ODG7) is caused by an autosomal recessive mutation in the MRPS22 gene; four 46,XX individuals from two families have been reported. [from MIM:618117; 2019.05.06]
MRPS22 encodes a component of the small 28S mitochondrial ribosome subunit that is found in species including mammals, fruit flies and nematodes but lacks a direct ortholog in fungi, yeast, plants or bacteria. (FBrf0238991 and references cited therein)
One human gene to one Drosophila gene
High-scoring ortholog of human MRPS22
