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| Infertility and Recurrent Pregnancy Loss v0.165 | REC114 | Zornitza Stark Marked gene: REC114 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.165 | REC114 | Zornitza Stark Gene: rec114 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.165 | REC114 | Zornitza Stark Classified gene: REC114 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.165 | REC114 | Zornitza Stark Gene: rec114 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.103 | ANKRD31 |
Jasmine Chew gene: ANKRD31 was added gene: ANKRD31 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: ANKRD31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKRD31 were set to 34794894; 34257419; 31003867 Phenotypes for gene: ANKRD31 were set to Premature ovarian failure Review for gene: ANKRD31 was set to GREEN Added comment: i) PMID: 34794894, PMID: 34257419- Three unrelated cases with premature ovarian failure and loss of function variants (het p.Q329∗ and c.1565-2A>G). Both mutations weakened the interaction between ANKRD31 and REC114 and were unable to further stabilise and regulate the binding of downstream DSB-forming proteins to chromatin. Mice with knocked out Ankrd31 have been reported to result in an increase in the number of DSBs and the enabling of the default DSB site, which also results in decremental efficiency of the regulation of DSB formation and may be responsible for the loss of synapsis and the delay in DSB repair (PMID: 31000436). ii) PMID: 31003867- Unrepaired DSBs and pairing failures-stochastic on autosomes, nearly absolute on X and Y-cause meiotic arrest and sterility in males. Ankrd31-deficient females have reduced oocyte reserves. This gene plays a role in DNA double strand breaks formation. Sources: Literature |
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| Infertility and Recurrent Pregnancy Loss v0.63 | REC114 |
Jasmine Chew gene: REC114 was added gene: REC114 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: REC114 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: REC114 were set to 31704776; 30388401; 38148155 Phenotypes for gene: REC114 were set to Oocyte/zygote/embryo maturation arrest 10, #MIM 619176 Review for gene: REC114 was set to GREEN Added comment: i) Literature in OMIM (PMID: 31704776;30388401)- x3 unrelated females with different biallelic variants presented with infertility due to oocyte maturation defects/multiple pronuclei zygotes, early embryonic arrest, and failed implantation of surviving embryos/miscarriages/recurrent hydatidiform moles. ii) New paper on male infertility: - PMID: 38148155- First report that identifies REC114 as the causative gene for male infertility- homozygous p.Gln190* variant in a Chinese NOA patient. Co-immunoprecipitation (Co-IP) and Western blot (WB) revealed that the variant resulted in truncated REC114 protein and impaired interaction with MEI4, which was essential for meiotic DNA double-strand break (DSB) formation. Sources: Literature |
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