相关实验视频

Updated: Jul 5, 2026

Metabolic Labeling of Leucine Rich Repeat Kinases 1 and 2 with Radioactive Phosphate

Metabolic Labeling of Leucine Rich Repeat Kinases 1 and 2 with Radioactive Phosphate

Published on: September 18, 2013

在SLITRK1的序列变异与图雷特综合征有关

Jesse F Abelson¹, Kenneth Y Kwan, Brian J O'Roak

¹Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA.

Science (New York, N.Y.)

|October 15, 2005

概括

SLITRK1基因的罕见序列变异与图雷特综合征 (TS) 相关,这是一种神经发育障碍. 影响SLITRK1的突变及其与microRNA hsa-miR-189的相互作用可能导致TS的发病.

科学领域:

神经遗传学神经遗传学
发育神经科学的发展神经科学.

背景情况:

图雷特综合征 (TS) 是一种神经发育障碍,具有显著的遗传成分,特征是运动和声部.
TS的遗传基础是复杂的,涉及多个基因和染色体区域.

研究的目的:

为了研究SLITRK1基因在图雷特综合征中的作用.
确定与TS相关的SLITRK1中的遗传变异.

主要方法:

在174个无关TS试验者中选SLITRK1.
3600个控制染色体的基因型定型.
对SLITRK1mRNA和microRNA hsa-miR-189表达模式的分析.
在神经元培养中的SLITRK1功能的体外研究.

主要成果:

在SLITRK1.1内的hsa-miR-189结合部位中发现了一个框架转移突变和两个变异实例.
这些SLITRK1变异在3600个控制染色体中不存在.
SLITRK1和hsa-miR-189在相关的大脑区域表现出重叠的表达.
野生型SLITRK1促进了树突生长,与突变形式不同.

结论:

在SLITRK1中罕见的序列变异与图雷特综合征有关.
鉴定到的突变可能会破坏SLITRK1的功能,从而导致TS.
SLITRK1及其与hsa-miR-189的相互作用与TS病变发生有关.

更多相关视频

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Demonstration of the Sequence Alignment to Predict Across Species Susceptibility Tool for Rapid Assessment of Protein Conservation

Demonstration of the Sequence Alignment to Predict Across Species Susceptibility Tool for Rapid Assessment of Protein Conservation

Published on: February 10, 2023

相关概念视频

Signal Sequences and Sorting Receptors

Signal Sequences and Sorting Receptors

Signal sequences are short amino acid sequences that guide newly synthesized proteins to their proper location within the cell. Classical signal sequences are fifteen to sixty amino acids long and present at the N-terminus of a polypeptide chain. Each signal sequence has a conserved segment of basic residues towards their N terminus, a hydrophobic core, and a C-terminus rich in polar residues. The C-terminus also contains a signal cleavage site and features a -3 -1 sequence motif. The -3-1...