相关实验视频

Updated: Jun 26, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

对TUBB4B基因和相关表型中的两个热点编码的全面分析

Jan-Philipp Bodenbender¹, Valerio Marino², Julia Philipp³

¹University Eye Hospital, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.

Scientific reports

|May 8, 2024

概括

在TUBB4B的遗传变异导致遗传性视网膜变 (IRD) 和感觉神经听力损失 (SNHL). 在Arg391的替代品显示出比Arg390.0更严重的视网膜表型.

科学领域:

遗传学遗传学是一个
眼科医生眼科眼科
听力学听力学是指听力学.

背景情况:

遗传性视网膜损伤 (IRD) 和感觉神经听力损失 (SNHL) 是令人衰弱的疾病.
TUBB4B基因与各种神经发育障碍有关.

研究的目的:

调查与TUBB4B相关的IRD和SNHL患者的基因型-表型相关性.
在TUBB4B中模拟氨基酸替代在热点编码子Arg390和Arg391的in silico效应.

主要方法:

这是一项观察性研究,包括来自5个家族的6名患有TUBB4B变异的患者.
进行了眼科和听力学检查.
使用了基因测试和蛋白质结构和功能的in silico建模.

主要成果:

两名使用Arg391替代物的患者 (p.(Arg391His),p.(Arg391Cys)) 呈现出明显的IRD表型和轻度至中度的SNHL.
三名用Arg390替代品 (p.(Arg390Gln,p.(Arg390Trp)) 的患者呈现出不同的视网膜表型和SNHL.
在基分析预测结构稳定性降低和α-tubulin相互作用亲和力降低在390和391.1编码号的TUBB4B变体.

结论:

在Arg390和Arg391的TUBB4B变体与不同的IRD和SNHL表型有关.
与Arg390替代剂相比,Arg391替代剂可能会导致更严重的视网膜表型,因为异体聚合物亲和力减少得更大.

关键词:

在TUBB4B中使用.听力损失听力损失遗传性视网膜损伤症遗传性视网膜损伤症是一种遗传性视网膜损伤症.利伯的先天性黄斑症 (Leber congenital amaurosis) 是一种先天性黄斑症.视网膜色素炎 (Retinitis Pigmentosa) 是一种可见的疾病.结构分析结构分析

更多相关视频

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Purification of Tubulin with Controlled Posttranslational Modifications and Isotypes from Limited Sources by Polymerization-Depolymerization Cycles

Purification of Tubulin with Controlled Posttranslational Modifications and Isotypes from Limited Sources by Polymerization-Depolymerization Cycles

Published on: November 5, 2020

相关概念视频

Translation

Translation

Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...

Pedigree Analysis

Pedigree Analysis

Incomplete Dominance

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

Genetic Lingo

Genetic Lingo

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...