PXD048586

PXD048586 is an original dataset announced via ProteomeXchange.

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

Revision	Datetime	Status	ChangeLog Entry
0	2024-01-15 21:06:16	ID requested
⏵ 1	2024-06-10 22:29:38	announced

Dataset with its publication pending

submitter keyword: female subfertility

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

iProX dataset URI