相关实验视频
Updated: Sep 17, 2025

10:20
Single-cell Profiling of Developing and Mature Retinal Neurons
Published on: April 19, 2012
14.3K
全基因组洞察到基因和途径塑造人类叶发育的基因和途径
Callum Hunt1, Ha-Jun Yoon1, Alvin Lirio1
1The University of Leicester Ulverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
medRxiv : the preprint server for health sciences
|June 30, 2025
概括
这项研究在超过61,000个个体中确定了123个与沟深度相关的基因位置,揭示了参与眼睛发育的新基因和途径.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 发展生物学 发展生物学
背景情况:
- 沟形态对于高敏度视力至关重要.
- 发育的遗传基础尚未得到充分理解.
研究的目的:
- 为了进行第一个全基因组关联研究 (GWAS) 的坑深度.
- 确定影响人类发育的遗传位置和基因.
主要方法:
- 全基因组关联研究 (GWAS) 在61,269个人的队列中.
- 利用12种变异对基因映射策略来优先考虑因果基因.
- 进行了罕见变异分析以确定其他关联.
主要成果:
- 确定了123个与沟深度相关的全基因组显著位置 (47个新型).
- 优先考虑128个假定因果基因,包括64个用于发育的新基因.
- 发现了新的生物学影响:视网膜酸代谢 (CYP26A1),细胞外矩阵,细胞骨动力学和细胞命运决定.
- 通过罕见变异分析确定ESYT3作为与骨结构相关的新型基因.
结论:
- 这个GWAS为人类发育的遗传结构提供了新的见解.
- 确定了关键的分子通路,包括视网膜酸代谢和细胞外矩阵动力学.
- 建立了未来关于发育和相关疾病的功能研究的基础.
相关概念视频
Photoreceptors and Visual Pathways
6.5K
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
6.5K
Human Genetics
738
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
738
The Retinoblastoma Gene
4.2K
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.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.2K
Genetic Screens
5.1K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.1K
Genomic Imprinting and Inheritance
35.3K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
35.3K
Anatomy of the Eyeball
7.6K
The eye is a spherical, hollow structure composed of three tissue layers. The outer layer — the fibrous tunic, comprises the sclera — a white structure — and the cornea, which is transparent. The sclera encompasses some of the ocular surface, most of which is not visible. However, the 'white of the eye' is distinctively visible in humans compared to other species. The cornea, a clear covering at the front of the eye, enables light penetration. The eye's middle...
7.6K

