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HRA007467
   HRA007467.xlsx
Title:
DNAH3 deficiency causes flagellar inner dynein arm loss and male infertility in humans and mice
Release date:
2024-11-04
Description:
Dynein axonemal heavy chain 3 (DNAH3) resides in the IDA and is highly expressed in the testis. However, the relationship between DNAH3 and male infertility is still unclear. Herein, we identified biallelic variants of DNAH3 in four unrelated Han Chinese infertile men with asthenoteratozoospermia through whole-exome sequencing (WES). These variants contributed to deficient DNAH3 expression in sperm flagella of the patient. Intriguingly, Dnah3 knockout (KO) male mice were also infertile, especially showing the severe reduction in sperm movement with the abnormal IDA and mitochondrion structure.
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:   2024-05-20
Requests:   -