期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 30, 期 6, 页码 721-729出版社
SPRINGERNATURE
DOI: 10.1038/s41431-022-01095-w
关键词
-
资金
- Natural Science Foundation of China [31771654, 32070842, 32000584, 82171607, 81901541]
- Non-profit Central Research Institute Fund of the Chinese Academy of Medical Sciences [2019PT310002]
- Natural Science Foundation of Jiangsu Province [BK20190081]
- Science and Technology Project of Anhui Province [202003a07020012]
- Qing Lan Project
This study introduces a clinical case of male infertility with normal sperm count and morphological structure, but low motility and weak forward movement. Whole-exome sequencing revealed a mutation in the TCTE1 gene, causing rapid degradation of the TCTE1 protein and male infertility.
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 of TCTE1 protein and male infertility. This phenotype is similar to the Tcte1(-/-) (Tcte1 knockout) mice, which showed structural integrity but reduced motility. Further, different from mice, in vitro Fertilization (IVF) could successfully solve the patient's problem of infertility. Our data provides a better understanding of the biological functions of TCTE1 in human flagellum assembly and male fertility.
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