DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis
Authors' conclusion
Compound heterozygous variants in highly conserved amino acids in DIS3 and failure of oocyte production in a functional model suggest that mutations in DIS3 cause POI. DIS3 is a 3' to 5' exoribonuclease that is the catalytic subunit of the exosome involved in RNA degradation and metabolism in the nucleus. The findings provide further evidence that mutations in genes important for transcription and translation are associated with POI.
Study context
- Population
- Sister pair with primary amenorrhea caused by primary ovarian insufficiency (POI) and their parents; additional women with POI analysed previously; controls recruited for health in old age or from the 1000 Genomes Project
- Outcome
- Genes with rare pathogenic variants
Methodological detailswhole exome sequencing, functional studies in Drosophila melanogaster model, Subjects recruited at an academic institution, Data analysed with the Pedigree Variant Annotation, Analysis and Search Tool
- Whole exome sequencing
- Functional studies in Drosophila melanogaster model
- Subjects recruited at an academic institution
- Data analysed with the Pedigree Variant Annotation, Analysis and Search Tool
Main finding
As reported in the abstract
- The sisters carried compound heterozygous variants in DIS3
- The sisters did not carry additional rare variants absent in publicly available datasets
Observational data: associations, not effects.
Further findings
DIS3 knockdown in D. melanogaster ovary
- Lack of oocyte production and severe infertility
Original publication
DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis. J Clin Endocrinol Metab. Published 3 March 2023. doi:10.
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