{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["30(6)"],"submitter":["Zhou S"],"pubmed_abstract":["Asthenozoospermia (AZS) is a common male infertility phenotype, accounting for 18% of infertile patients. The N-DRC (Nexin-dynein Regulatory Complex) complex is the motor regulating device in the flagellum, which is found in most eukaryotic organisms with flagellum. The deletion of TCTE1 (T-Complex-Associated Testis-Expressed 1), a component of the N-DRC complex also known as DRC5 (Dynein regulatory complex subunit 5), has been shown to cause asthenospermia in mice. This study mainly introduces a clinical case of male infertility with normal sperm count, normal morphological structure, but low motility and weak forward movement. By whole-exome sequencing, we found that TCTE1 became a frameshift mutant, ENST00000371505.5: c.396_397insTC (p.Arg133Serfs*33), resulting in the rapid degradation"],"journal":["European journal of human genetics : EJHG"],"pagination":["721-729"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9177828"],"repository":["biostudies-literature"],"pubmed_title":["Bi-allelic variants in human TCTE1/DRC5 cause asthenospermia and male infertility."],"pmcid":["PMC9177828"],"pubmed_authors":["Zhang J","Zhou P","Liu M","Zhou S","He X","Cao Y","Liu S","Hua R","Wu H"],"additional_accession":[]},"is_claimable":false,"name":"Bi-allelic variants in human TCTE1/DRC5 cause asthenospermia and male infertility.","description":"Asthenozoospermia (AZS) is a common male infertility phenotype, accounting for 18% of infertile patients. The N-DRC (Nexin-dynein Regulatory Complex) complex is the motor regulating device in the flagellum, which is found in most eukaryotic organisms with flagellum. The deletion of TCTE1 (T-Complex-Associated Testis-Expressed 1), a component of the N-DRC complex also known as DRC5 (Dynein regulatory complex subunit 5), has been shown to cause asthenospermia in mice. This study mainly introduces a clinical case of male infertility with normal sperm count, normal morphological structure, but low motility and weak forward movement. By whole-exome sequencing, we found that TCTE1 became a frameshift mutant, ENST00000371505.5: c.396_397insTC (p.Arg133Serfs*33), resulting in the rapid degradation","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Jun","modification":"2025-04-19T08:08:58.608Z","creation":"2025-04-19T08:08:58.608Z"},"accession":"S-EPMC9177828","cross_references":{"pubmed":["35388187"],"doi":["10.1038/s41431-022-01095-w"]}}