发育协调障碍:利用运动学习任务和 QTL 分析,我们能从 RI 小鼠身上学到什么?

IF 2.4 4区 心理学 Q2 BEHAVIORAL SCIENCES
Kamaldeep Gill, Jeffy Rajan Soundara Rajan, Eric Chow, David G. Ashbrook, Robert W. Williams, Jill G. Zwicker, Daniel Goldowitz
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引用次数: 0

摘要

发育协调障碍(DCD)是一种病因不明的神经发育障碍,每 20 名儿童中就有一名患儿。有迹象表明,发育协调障碍有潜在的遗传因素,因为其遗传率很高。因此,我们探索使用重组近交系小鼠家族(即 BXD 面板),通过鉴定数量性状位点(QTL)来了解复杂性状(即运动学习)的遗传基础。本研究的总体目标是利用 QTL 方法评估 BXD 品系小鼠基因组与表型组之间的相关性,以便更好地了解人类 DCD 的表现形式。目前这项研究的结果证实,选定的BXD品系和小脑体积改变的品系在运动学习方面存在差异。与其他相关的BXD品系相比,BXD15、BXD27、BXD28、BXD75和BXD86这五个品系表现出最类似于DCD的表型。结果表明,BXD15 和 BXD75 主要在粗大运动技能方面有困难,BXD28 主要在精细运动技能方面有困难,而 BXD27 和 BXD86 株系在精细和粗大运动技能方面都有困难。我们评估了显著 QTLs 中基因的功能作用与 DCD 类行为的关系。只有Rab3a(Ras相关蛋白Rab-3A)成为水平梯级任务的高可能性候选基因。该基因与大脑和骨骼肌的发育有关,但缺乏非同义多态性。这项研究与 Gill 等人(同一期)的研究是利用 BXD 株系小鼠专门研究 DCD 遗传联系的第一项研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Developmental coordination disorder: What can we learn from RI mice using motor learning tasks and QTL analysis

Developmental coordination disorder: What can we learn from RI mice using motor learning tasks and QTL analysis

Developmental coordination disorder: What can we learn from RI mice using motor learning tasks and QTL analysis

Developmental Coordination Disorder (DCD) is a neurodevelopmental disorder of unknown etiology that affects one in 20 children. There is an indication that DCD has an underlying genetic component due to its high heritability. Therefore, we explored the use of a recombinant inbred family of mice known as the BXD panel to understand the genetic basis of complex traits (i.e., motor learning) through identification of quantitative trait loci (QTLs). The overall aim of this study was to utilize the QTL approach to evaluate the genome-to-phenome correlation in BXD strains of mice in order to better understand the human presentation of DCD. Results of this current study confirm differences in motor learning in selected BXD strains and strains with altered cerebellar volume. Five strains – BXD15, BXD27, BXD28, BXD75, and BXD86 – exhibited the most DCD-like phenotype when compared with other BXD strains of interest. Results indicate that BXD15 and BXD75 struggled primarily with gross motor skills, BXD28 primarily had difficulties with fine motor skills, and BXD27 and BXD86 strains struggled with both fine and gross motor skills. The functional roles of genes within significant QTLs were assessed in relation to DCD-like behavior. Only Rab3a (Ras-related protein Rab-3A) emerged as a high likelihood candidate gene for the horizontal ladder rung task. This gene is associated with brain and skeletal muscle development, but lacked nonsynonymous polymorphisms. This study along with Gill et al. (same issue) is the first studies to specifically examine the genetic linkage of DCD using BXD strains of mice.

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来源期刊
Genes Brain and Behavior
Genes Brain and Behavior 医学-行为科学
CiteScore
6.80
自引率
4.00%
发文量
62
审稿时长
4-8 weeks
期刊介绍: Genes, Brain and Behavior was launched in 2002 with the aim of publishing top quality research in behavioral and neural genetics in their broadest sense. The emphasis is on the analysis of the behavioral and neural phenotypes under consideration, the unifying theme being the genetic approach as a tool to increase our understanding of these phenotypes. Genes Brain and Behavior is pleased to offer the following features: 8 issues per year online submissions with first editorial decisions within 3-4 weeks and fast publication at Wiley-Blackwells High visibility through its coverage by PubMed/Medline, Current Contents and other major abstracting and indexing services Inclusion in the Wiley-Blackwell consortial license, extending readership to thousands of international libraries and institutions A large and varied editorial board comprising of international specialists.
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