相关实验视频
Updated: Feb 7, 2026

04:38
Assessment of Sexual Behavior of Male Mice
Published on: March 5, 2020
21.9K
在Ccdc113中失去功能的突变会导致人类和小鼠的男性不孕症
Hong-Tao Yu1, Fu-Lin Liu2, Xiao-Xiao Zhang3
1Department of Emergency Surgery, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, University of Electronic Science and Technology, Chengdu 610072, China.
Asian journal of andrology
|February 6, 2026
概括
在Coiled-coil域含蛋白113 (CCDC113) 中的基因突变通过破坏精子鞭毛来导致男性不孕. CCDC113对于男性生育能力至关重要,提供新的诊断和管理见解.
科学领域:
- 遗传学 是一个遗传学.
- 生殖生物学 生殖生物学
- 分子生物学分子生物学
背景情况:
- 遗传因素对男性不育有很大影响,但潜在的机制尚未完全理解.
- 卷曲-卷曲域含有蛋白113 (CCDC113) 对于乳毛和鞭毛组装至关重要.
- 奥利戈阿斯诺特拉托动物精子症是一种复杂的男性不孕症状况,具有不同的病因.
研究的目的:
- 研究CCD113在男性生育能力中的作用.
- 确定与CCDC113.3相关的男性不孕症的遗传原因.
- 探索CCDC113突变对精子结构和功能的功能后果.
主要方法:
- 整体外基因组测序被用来识别CCDC113.3中的突变.
- 对患者的精子进行了功能分析,以评估CCDC113蛋白质的稳定性和轴膜结构.
- 产生了cdc113淘汰赛小鼠以模拟人类不孕症表型.
主要成果:
- 双性CCDC113突变被确定在两个家族的oligoasthenoteratozoospermia.
- 鉴定出突变 (c.901A>C; p.K301Q和c.404A>C; p.E135A) 与不孕症共同分离,并导致缺陷的精子鞭毛.
- 在人类和小鼠中,CCDC113突变导致了蛋白质不稳定,轴膜结构破坏,精子形态异常,运动能力受损和精子生成缺陷.
- 在一名患者中,通过注射细胞内的精子获得了成功的怀孕,证明了基因诊断的潜力.
结论:
- CCDC113对男性生育能力至关重要,在精子鞭毛的组装和功能中发挥着关键作用.
- 在CCDC113中发生的突变代表了男性不孕症的新型遗传原因.
- 这些发现提高了对不孕不育的遗传情景的理解,并为诊断和管理提供了新的途径.
更多相关视频
相关概念视频
Infertility in Males
572
Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
572
Mutations
94.5K
Overview
94.5K
Mutations
44.6K
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
44.6K
Loss of Tumor Suppressor Gene Functions
6.1K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
6.1K
Infertility in Females
4.9K
Female infertility is defined as the inability to conceive after a year of regular, unprotected intercourse and affects about 10–15% of couples worldwide. The primary cause of female infertility is ovulatory disorders, which hinder the release of eggs. These disorders can be classified as hypothalamic amenorrhea, polycystic ovarian syndrome (PCOS), premature ovarian failure, and hyperprolactinemic anovulation disorders.
Endometriosis, a condition characterized by abnormal growth of...
Endometriosis, a condition characterized by abnormal growth of...
4.9K
Viral Mutations
39.9K
A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
39.9K

