Matches in SemOpenAlex for { <https://semopenalex.org/work/W4220995320> ?p ?o ?g. }
- W4220995320 abstract "Primary ovarian insufficiency (POI) affects 1% of women and carries significant medical and psychosocial sequelae. Approximately 10% of POI has a defined genetic cause, with most implicated genes relating to biological processes involved in early fetal ovary development and function. Recently, Ythdc2, an RNA helicase and N6-methyladenosine reader, has emerged as a regulator of meiosis in mice. Here, we describe homozygous pathogenic variants in YTHDC2 in 3 women with early-onset POI from 2 families: c. 2567C>G, p.P856R in the helicase-associated (HA2) domain and c.1129G>T, p.E377*. We demonstrated that YTHDC2 is expressed in the developing human fetal ovary and is upregulated in meiotic germ cells, together with related meiosis-associated factors. The p.P856R variant resulted in a less flexible protein that likely disrupted downstream conformational kinetics of the HA2 domain, whereas the p.E377* variant truncated the helicase core. Taken together, our results reveal that YTHDC2 is a key regulator of meiosis in humans and pathogenic variants within this gene are associated with POI." @default.
- W4220995320 created "2022-04-03" @default.
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- W4220995320 date "2022-03-08" @default.
- W4220995320 modified "2023-10-09" @default.
- W4220995320 title "Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency" @default.
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