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HRA003696
   HRA003696.xlsx
Title:
ACTRT1 variant causes acrosome detachment and severe sterility
Release date:
2024-11-04
Description:
Sperm head malformation is another important factor of male infertility. The perinuclear membrane (PT) of sperm is a cytoskeletal element that envelop the nucleus of sperm. However, the physiological role of PT in sperm is largely uncertain. ACTRT1, ACTRT2, ACTL7A, and ACTL9 proteins interact to form amultimeric complex and localize to the subacrosomal region of spermatids. ACTRT1 deletion leads to a high incidence of deformities of the head and apicast detachment from the sperm nucleus, which is caused by the loosening of apicast structure during spermatogenesis. We analyzed the pathogenic gene ACTRT1 in a patient with primary infertility by whole exon sequencing. The pathogenic variants of this gene are highly conserved and showed to be harmful and rare in silicon analysis. Our study provides further insight for clinician researchers to address the genetic causes of sperm head malformations in patients.
Data Accessibility:   
Controlled access Request Data
BioProject:
PRJCA011671
Study type:
Disease Study
Disease name:
male infertility
Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.


DAC NO.:
HDAC001015
DAC name:
RGI_Chongqing
Contact person:
Huang Guoning
Email:
gnhuang217@sina.com
Description:
Reproductive and Genetic Institute, Chongqing Health Center for Women and Children
Individuals & samples
Files
Request Data
Submitter:   Huang Guoning / gnhuang217@sina.com
Organization:   Chongqing Health Center for Women and Children
Submission date:   2022-12-26
Requests:   -