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"Primary ovarian insufficiency causes female infertility by eliminating normal reproductive functions. " Interestingly, the interaction of RAD51B-c. 92delT with RAD51C and its newly identified interactors RAD51 and HELQ was either abrogated or diminished. In vitro and in explanted mouse bone marrow cells, repair of mitomycin-C-induced chromosomal aberrations was lacking in RAD51B/Rad51b-c. 92delT human and mouse somatic cells. According to the Rad51b-c. 92delT variant, "low replication fork-growth of patient-derived lymphoblastoid cell lines and pluripotent reprogramming success of primary mouse embryonic fibroblasts" is reduced.
Source link: https://doi.org/10.1038/s41418-022-01021-z
"Approximately 10% of POI has a definite genetic cause, with the majority of the affected genes relating to biological processes involved in early fetal ovary formation and function. " Here, we introduce homozygous pathogenic variants in YTHDC2 in three women with early-onset POI from two families: c. 2567C> G, p. P856R in the helicase-associated domain, and p. E377T. The p. P856R version of the HA2 domain resulted in a less flexible protein that could have possibly impaired downstream conformational kinetics of the HA2 domain, whereas the p. E377* variant truncated the helicase core. ".
Source link: https://doi.org/10.1172/jci.insight.154671
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