PXD037982

PXD037982 is an original dataset announced via ProteomeXchange.

Title	Role of CEP112 and hnRNPA2B1 complex phase separation in RNA granule translation during spermiogenesis in humans and mice
Description	Centrosomal proteins (CEPs) are active components of centrioles that mediate multiple biological processes, such as ciliogenesis and centriole biogenesis; therefore, CEP dysfunctions are broadly implicated in various human diseases. Although CEPs have been genetically linked to reproduction, the underlying molecular mechanisms remain poorly understood. Here, we report that knocking out Cep112 in mice causes male infertility with various sperm abnormalities and phenotypes consistent with human asthenoteratozoospermia. Microscopic observations revealed CEP112 is a novel component of atypical centrioles in human sperm cells. Mechanically, as an intrinsically disordered region-rich RNA-binding protein, CEP112 interacted with hnRNPA2B1 and condensed with key spermiogenesis-related mRNA molecules (Fsip2, Cfap61, and Cfap74) via liquid–liquid phase separation, which promoted RNA transport and the maintenance of local translation during spermiogenesis. Furthermore, two patients with bi-allelic variants in CEP112 were identified in a cohort of 568 unrelated infertile men, and in vitro experiments showed the mutations affected the phase-separation characteristics. Our findings provide new information on the roles of CEP112 and LLPS in male reproductive biology.
HostingRepository	PRIDE
AnnounceDate	2024-10-22
AnnouncementXML	Submission_2024-10-22_06:57:44.971.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Xueguang Zhang
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationList	No PTMs are included in the dataset
Instrument	ultraflex

Revision	Datetime	Status	ChangeLog Entry
0	2022-11-07 08:27:20	ID requested
1	2024-09-05 01:00:36	announced
⏵ 2	2024-10-22 06:57:45	announced	2024-10-22: Updated project metadata.

Dataset with its publication pending

submitter keyword: testis, LC-MS,mice

Xueguang Zhang
contact affiliation	Sichuan university
contact email	zxgnice@stu.scu.edu.cn
lab head
Xueguang Zhang
contact affiliation	Sichuan university
contact email	zxgnice@stu.scu.edu.cn
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2024/09/PXD037982

PRIDE project URI

• PRIDE
  1. PXD037982
     1. Label: PRIDE project
     2. Name: Role of CEP112 and hnRNPA2B1 complex phase separation in RNA granule translation during spermiogenesis in humans and mice