Asthenoteratozoospermia is one of the most severe types of qualitative sperm defects.Most cases are due to mutations in genes encoding the components of sperm flagella,which have an ultrastructure similar to that of m...Asthenoteratozoospermia is one of the most severe types of qualitative sperm defects.Most cases are due to mutations in genes encoding the components of sperm flagella,which have an ultrastructure similar to that of motile cilia.Coiled-coil domain containing 103(CCDC103)is an outer dynein arm assembly factor,and pathogenic variants of CCDC103 cause primary ciliary dyskinesia(PCD).However,whether CCDC103 pathogenic variants cause severe asthenoteratozoospermia has yet to be determined.Whole-exome sequencing(WES)was performed for two individuals with nonsyndromic asthenoteratozoospermia in a consanguineous family.A homozygous CCDC103 variant segregating recessively with an infertility phenotype was identified(ENST00000035776.2,c.461A>C,p.His154Pro).CCDC103 p.His154Pro was previously reported as a high prevalence mutation causing PCD,though the reproductive phenotype of these PCD individuals is unknown.Transmission electron microscopy(TEM)of affected individuals’spermatozoa showed that the mid-piece was severely damaged with disorganized dynein arms,similar to the abnormal ultrastructure of respiratory ciliary of PCD individuals with the same mutation.Thus,our findings expand the phenotype spectrum of CCDC103 p.His154Pro as a novel pathogenic gene for nonsyndromic asthenospermia.展开更多
Pesticide plays a vital role in agricultural, industrial and residemial pest control. In recent years the ‘pesticide problem＇ has been the focus of public interest because these chemicals have a very important role ...Pesticide plays a vital role in agricultural, industrial and residemial pest control. In recent years the ‘pesticide problem＇ has been the focus of public interest because these chemicals have a very important role in agriculture but these chemicals also act like endocrine disruptor. Experiments were carried out on 12 weeks old mice with 30 ± 2 gm. b.w. Endosulfan were administered at 3 mg/kg b.w daily by gavage method for five weeks followed by selenium treatment at 10 μg/kg.b.w./day for five weeks. 9 ＋ 2 arrangment were clearly observed in control group mice with well structured dynein and nexin arm while Endosulfan treated group show depolymerised microtubule and 9 ＋ 1 arrangment with degenerated mitochondria. While selenium treated group shows restoration of 9 ＋ 2 arrangement of microtubule. It is evident from study that endosulfan causes depolymerisation of microtubule while selenium administered group show normal polymerized microtubule and restores normal fertility in mice.展开更多
基金supported by the National Natural Science Foundation of China(No.81971446).
文摘Asthenoteratozoospermia is one of the most severe types of qualitative sperm defects.Most cases are due to mutations in genes encoding the components of sperm flagella,which have an ultrastructure similar to that of motile cilia.Coiled-coil domain containing 103(CCDC103)is an outer dynein arm assembly factor,and pathogenic variants of CCDC103 cause primary ciliary dyskinesia(PCD).However,whether CCDC103 pathogenic variants cause severe asthenoteratozoospermia has yet to be determined.Whole-exome sequencing(WES)was performed for two individuals with nonsyndromic asthenoteratozoospermia in a consanguineous family.A homozygous CCDC103 variant segregating recessively with an infertility phenotype was identified(ENST00000035776.2,c.461A>C,p.His154Pro).CCDC103 p.His154Pro was previously reported as a high prevalence mutation causing PCD,though the reproductive phenotype of these PCD individuals is unknown.Transmission electron microscopy(TEM)of affected individuals’spermatozoa showed that the mid-piece was severely damaged with disorganized dynein arms,similar to the abnormal ultrastructure of respiratory ciliary of PCD individuals with the same mutation.Thus,our findings expand the phenotype spectrum of CCDC103 p.His154Pro as a novel pathogenic gene for nonsyndromic asthenospermia.
文摘Pesticide plays a vital role in agricultural, industrial and residemial pest control. In recent years the ‘pesticide problem＇ has been the focus of public interest because these chemicals have a very important role in agriculture but these chemicals also act like endocrine disruptor. Experiments were carried out on 12 weeks old mice with 30 ± 2 gm. b.w. Endosulfan were administered at 3 mg/kg b.w daily by gavage method for five weeks followed by selenium treatment at 10 μg/kg.b.w./day for five weeks. 9 ＋ 2 arrangment were clearly observed in control group mice with well structured dynein and nexin arm while Endosulfan treated group show depolymerised microtubule and 9 ＋ 1 arrangment with degenerated mitochondria. While selenium treated group shows restoration of 9 ＋ 2 arrangement of microtubule. It is evident from study that endosulfan causes depolymerisation of microtubule while selenium administered group show normal polymerized microtubule and restores normal fertility in mice.
