跨越PLK4的常见变体与人类胚胎中的线粒原体无体积症有关
Rajiv C McCoy1, Zachary Demko2, Allison Ryan2
1Department of Biology, Stanford University, Stanford, CA, USA.
概括
染色体4上的遗传变异与形积分有关,这是导致怀孕流产的主要原因. 这一发现表明,潜在的遗传因素影响了早期胚胎发育和生存到囊胚阶段.
科学领域:
- 遗传学 是一个遗传学.
- 生殖生物学 生殖生物学
- 发展生物学 发展生物学
背景情况:
- 染色体数异常 (aneuploidy) 在人类早期发育中很常见,是流产的主要原因.
- 鉴定动脉积症的遗传基础对于理解妊娠流产和改善体外受精 (IVF) 结果至关重要.
研究的目的:
- 调查早期人类胚胎中母性遗传变异和体积变异之间的联系.
- 在关联的染色体区域内识别可能影响线粒体忠实性和胚胎发育的候选基因.
主要方法:
- 在试管婴儿周期期间对第3天胚胎进行查,以评估 ploidy 状态.
- 基因组分析以确定母体染色体上的相关遗传变异.
- 候选基因分析专注于参与细胞分裂和染色体分离的基因.
主要成果:
- 在母体基因组的染色体4上,发现了假定线粒起源的无体积和基因变异之间的关联.
- 候选基因Polo-like kinase 4 (PLK4),涉及到中心重复,在相关区域内被确定.
- 具有高风险基因型的母亲在第5天 (囊胚阶段) 胚胎数量较少,这表明胚胎存活率降低.
结论:
- 染色体4上的母性遗传变异与胚胎无体积和减少胚胎细胞形成有关.
- PLK4可能在线粒体忠实性中发挥作用,其失调可能会导致积体和怀孕流产.
- 已识别的遗传区域显示了古代人类选择的证据,这表明底层变体在进化过程中扮演了重要的角色.
相关概念视频
Histone Variants at the Centromere
5.1K
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
5.1K
The Mitotic Spindle
8.1K
The mitotic spindle—or spindle apparatus—is a eukaryotic, cytoskeletal structure made up of long protein fibers called microtubules. Formed during cell division, the spindle separates sister chromatids and moves them to opposite ends of a parental cell, where the now individual chromosomes are distributed to two daughter cell nuclei.
The bipolar configuration of the mitotic spindle facilitates chromosomal segregation, preparing the cell for division. One mechanism that ensures...
The bipolar configuration of the mitotic spindle facilitates chromosomal segregation, preparing the cell for division. One mechanism that ensures...
8.1K
Common Ion Effect
47.0K
Compared with pure water, the solubility of an ionic compound is less in aqueous solutions containing a common ion (one also produced by dissolution of the ionic compound). This is an example of a phenomenon known as the common ion effect, which is a consequence of the law of mass action that may be explained using Le Châtelier’s principle. Consider the dissolution of silver iodide:
47.0K
Spanning Openings in Brick Walls
580
In brick wall construction, supporting structures are crucial for openings like windows and doors to maintain the integrity and support the weight of the wall above. These supports include lintels, corbels, and arches, each serving specific structural purposes.
Lintels are primary supports used to span openings and can be crafted from materials such as reinforced concrete, steel-reinforced brick masonry, or simple steel angles. These are straightforward to install and are typically concealed...
Lintels are primary supports used to span openings and can be crafted from materials such as reinforced concrete, steel-reinforced brick masonry, or simple steel angles. These are straightforward to install and are typically concealed...
580
Common Respiratory Disorders
1.4K
Respiratory disorders, a prevalent health concern globally, are generally divided into two primary categories: upper and lower respiratory tract disorders. The categorization is based on the area of the respiratory system they affect.
Upper respiratory disorders impact the airways above the vocal cords, encompassing areas like the nose, sinuses, and throat. Various conditions fall under this category, including the common cold and allergic rhinitis. These disorders can stem from several causes,...
Upper respiratory disorders impact the airways above the vocal cords, encompassing areas like the nose, sinuses, and throat. Various conditions fall under this category, including the common cold and allergic rhinitis. These disorders can stem from several causes,...
1.4K
Cancers Originate from Somatic Mutations in a Single Cell
14.9K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
14.9K


