PXD048586
PXD048586 is an original dataset announced via ProteomeXchange.
Dataset Summary
Title | Proteomics analysis of ovaries from wild-type and Rnf111 mutant mice |
Description | Premature ovarian insufficiency (POI) is a heterogeneous female disorder characterized by the loss of ovarian function before the age of 40. It represents a significant detriment to female fertility. However, the known POI-causative genes currently account for only a fraction of cases. To elucidate the genetic factors underlying POI, we conducted whole-exome sequencing on a family with three POI patients and identified a deleterious missense variant in RNF111. In a subsequent replication study involving 1030 POI patients, this variant was not only confirmed but also accompanied by the discovery of three additional predicted deleterious RNF111 variants. These variants collectively account for eight cases, representing 0.78% of the study cohort. A further study involving 500 patients with diminished ovarian reserves also identified two additional RNF111 variants. Notably, RNF111 encodes an E3-ubiquitin ligase with a regulatory role in the TGF-β/BMP signaling pathway. Our analysis revealed that RNF111/RNF111 is |
HostingRepository | iProX |
AnnounceDate | 2024-01-12 |
AnnouncementXML | Submission_2024-06-10_22:29:38.605.xml |
DigitalObjectIdentifier | |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Unsupported dataset by repository |
PrimarySubmitter | Chengcheng Sonng |
SpeciesList | scientific name: Mus musculus; NCBI TaxID: 10090; |
ModificationList | No PTMs are included in the dataset |
Instrument | timsTOF Pro |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
---|---|---|---|
0 | 2024-01-15 21:06:16 | ID requested | |
⏵ 1 | 2024-06-10 22:29:38 | announced |
Publication List
Dataset with its publication pending |
Keyword List
submitter keyword: female subfertility |
Contact List
Feng Zhang | |
---|---|
contact affiliation | Fudan University |
contact email | zhangfeng@fudan.edu.cn |
lab head | |
Chengcheng Sonng | |
contact affiliation | Fudan University |
contact email | song-chengcheng@outlook.com |
dataset submitter |
Full Dataset Link List
iProX dataset URI |