相关实验视频

Updated: Jul 26, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

里林的一个移删除突变导致白色瑞士牧羊犬中小脑低成形

Mathew D Littlejohn¹, Nick Sneddon¹, Keren Dittmer²

¹AL Rae Centre for Genetics and Breeding, Massey University, Hamilton, New Zealand.

Animal genetics

|June 19, 2023

概括

一项遗传研究发现了Reelin (RELN) 基因突变,导致白色瑞士牧羊犬中小脑低成形. 这一发现有助于通过遗传测试和选择性育种来管理神经疾病.

科学领域:

兽医遗传学兽医遗传学
狗神经学狗神经学
发展生物学发展生物学

背景情况:

小脑低成形是一种神经疾病,其特征是小脑发育不完全,通常具有遗传基础.
里林 (RELN) 基因的门德尔效应突变是人类,绵羊和小鼠小脑低成形的已知原因.

研究的目的:

为了研究白色瑞士牧羊犬中小脑低成形的遗传基础.
为了确定导致该病的特定突变,在受影响的狗血统中.

主要方法:

进行了全基因组测序,对来自表现为小脑低成形的家庭的十只狗进行了测序.
数据过是基于一个递归传输模型来识别候选变异.
分析了候选变体的蛋白质改变效应,重点是Reelin (RELN) 基因.

主要成果:

确定了Reelin (RELN) 基因 (p.Val947*) 的移删除是小脑低成形的可能原因.
这种特定的RELN功能丧失变异在其他犬种或欧洲白色瑞士牧羊犬队列中没有被检测到.
这些发现表明,最近发生的一种突变事件导致了观察到的犬类小脑缩症.

结论:

已识别的RELN功能丧失变体与白色瑞士牧羊犬中小脑低成形有着强烈的关系.
这一遗传发现有助于开发用于载体检测的诊断工具.
现在可以实施优化的交配方案来管理和潜在地根除这种有害的等位基因在品种中.

关键词:

在RELN中,RELN是RELN.里林里林 (Reelin) 是一种狗类犬类动物狗类犬类小粒细胞的低成形.这些狗狗狗狗狗狗狗.突变是一种突变.神经发育神经系统的发展.整个基因组的测序.

更多相关视频

Modeling Age-Associated Neurodegenerative Diseases in Caenorhabditis elegans

Modeling Age-Associated Neurodegenerative Diseases in Caenorhabditis elegans

Published on: August 15, 2020

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Published on: July 3, 2020

相关概念视频

Lethal Alleles

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...