PXD036197

PXD036197 is an original dataset announced via ProteomeXchange.

Title	IQCN disruption causes fertilization failure and male infertility due to manchette assembly defect
Description	Total fertilization failure (TFF) is an important cause of infertility; however, the genetic basis of TFF caused by male factors remain to be clarified. In this study, whole-exome sequencing was firstly used to screen for genetic causes of TFF after intracytoplasmic sperm injection (ICSI), and homozygous variants in the novel gene IQ motif containing N (IQCN) were identified in two affected individuals with abnormal acrosome structure. Then, Iqcn knockout mice were generated by CRISPR-Cas9 technology and showed that the knockout male mice resembled TFF phenotype with oocyte activation failure. Additionally, we found that IQCN regulates the microtubule nucleation during manchette assembly via calmodulin and related calmodulin-binding proteins, which resulted in head deformity with aberrant oocyte activation factor PLCζ. Fortunately, ICSI with assisted oocyte activation can overcome IQCN-associate male infertility. Thus, our study firstly identifies the function of IQCN, highlights the relationship between the manchette assembly and fertilization, and provides a genetic marker and a therapeutic option for male-source TFF.
HostingRepository	PRIDE
AnnounceDate	2023-11-14
AnnouncementXML	Submission_2023-11-14_08:25:13.121.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Jing Dai
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationList	No PTMs are included in the dataset
Instrument	Q Exactive HF

Revision	Datetime	Status	ChangeLog Entry
0	2022-08-21 04:14:17	ID requested
1	2022-11-22 04:40:47	announced
⏵ 2	2023-11-14 08:25:13	announced	2023-11-14: Updated project metadata.

Dai J, Li Q, Zhou Q, Zhang S, Chen J, Wang Y, Guo J, Gu Y, Gong F, Tan Y, Lu G, Zheng W, Lin G, IQCN disruption causes fertilization failure and male infertility due to manchette assembly defect. EMBO Mol Med, 14(12):e16501(2022) [pubmed]

submitter keyword: IQCN

manchette

fertilization failure

Ge Lin
contact affiliation	School of Basic Medical Science, Central South University
contact email	247728692@qq.com
lab head
Jing Dai
contact affiliation	School of Basic Medical Science, Central South University
contact email	247728692@qq.com
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/2022/11/PXD036197

PRIDE project URI

• PRIDE
  1. PXD036197
     1. Label: PRIDE project
     2. Name: IQCN disruption causes fertilization failure and male infertility due to manchette assembly defect