相关实验视频
Updated: Jul 12, 2026

06:08
A Novel Method: Super-selective Adrenal Venous Sampling
Published on: September 15, 2017
对于SYCP3突变而异的患者的亚精子症
Toshinobu Miyamoto1, Shiga Hasuike, Leah Yogev
1Laboratory of Mammalian Genes and Development, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Lancet (London, England)
|December 4, 2003
概括
在SYCP3基因的突变破坏了精子生成,导致男性不孕. 一种特定的SYCP3突变损害了蛋白质相互作用和纤维形成,导致非阻塞性亚精.
科学领域:
- 遗传学 遗传学 是一个
- 生殖生物学 生殖生物学
- 分子生物学分子生物学
背景情况:
- 男性不孕症往往是由于缺乏对潜在分子缺陷的理解而造成的异常.
- 研究小鼠的基因突变为人类男性不孕症的遗传原因提供了洞察力.
- SYCP3是一种突触体复杂蛋白质;它在小鼠中的零突变会导致带有介质性停止的亚子精子症.
研究的目的:
- 调查人类丸特异性SYCP3基因突变与非阻塞性亚子精相关的假设.
- 扩大对人类男性不孕不育的遗传病因学的理解.
主要方法:
- 人类SYCP3通过对小鼠SYcp3cDNA的同质性被确定.
- 使用PCR分析了SYCP3的组织特异表达.
- 通过序列分析,从19名亚精子患者和75名肥沃对照者的DNA进行了SYCP3突变的选.
- 突变的功能意义通过蛋白质相互作用研究来评估.
主要成果:
- 在SYCP3中发现了1bp删除 (643delA) 在两名患者身上,导致过早停止密码子和C终端卷轴区域的截断.
- 突变的SYCP3蛋白在体外与野生型SYCP3的相互作用显著减少.
- 突变蛋白干扰了培养细胞中的SYCP3纤维形成.
结论:
- 在人类精子生成过程中,SYCP3在介质功能中起着至关重要的作用.
- 在SYCP3的突变可以通过主导的负干扰损害这种基本的介质功能,导致男性不孕.
相关概念视频
Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Sex Linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
iPS Cell Differentiation
The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.
Infertility in Males
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...
Pharmaceutical Alternatives: Polymorphic Form-Related and Particle Size-Related Therapeutic Nonequivalence
Changes in polymorphic forms can significantly influence the bioavailability of poorly soluble drugs. Although the FDA defines pharmaceutical equivalence based on having the same active ingredient, dosage form, and route of administration, it does not automatically disqualify products with different polymorphic forms. This means two products with different polymorphs can still be deemed pharmaceutically equivalent. However, polymorphic differences can affect properties like wettability,...

