PXD036197 is an
original dataset announced via ProteomeXchange.
Dataset Summary
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 PLCĪ¶. 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 |
Dataset History
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. |
Publication List
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] |
Keyword List
submitter keyword: IQCN |
manchette |
fertilization failure |
Contact List
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 | |
Full Dataset Link List
Dataset FTP location
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PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD036197
- Label: PRIDE project
- Name: IQCN disruption causes fertilization failure and male infertility due to manchette assembly defect