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用人类测序,斑马鱼查和蛋白质结合微阵列来鉴定眼部先天性脑运动神经元疾病的基因
Julie A Jurgens1,2,3,4, Paola M Matos Ruiz2, Jessica King5
1F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
bioRxiv : the preprint server for biology
|September 24, 2024
概括
研究人员使用斑马鱼查发现了三种与眼部先天性脑失神障碍 (oCCDD) 相关的新基因. 这项研究验证了寻找罕见眼动障碍遗传原因的新方法.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 发育生物学 发展生物学
- 眼科医生 眼科 眼科
背景情况:
- 眼部先天性头骨神障碍 (oCCDD) 是一组影响眼部运动的罕见遗传疾病.
- 确定未解决的oCCDD病例的遗传基础对于诊断和了解疾病机制至关重要.
- 之前的外体和基因组测序在未解决的oCCDD患者队列中确定了80个候选基因.
研究的目的:
- 功能性地评估人类新型序列衍生候选基因和与未解决的oCCDDs相关的变异.
- 通过全外体和全基因组测序识别的候选基因子集的优先级.
- 为了研究转录因子基因中不确定的意义变异的功能影响.
主要方法:
- 在斑马鱼中利用基于G0 CRISPR/Cas9的淘汰试验来选优先的候选基因.
- 为十七个候选基因生成F2生殖系突变,以评估遗传效应.
- 采用蛋白质结合微阵列来测试转录因子中人类变异的DNA结合能力.
主要成果:
- 在G0斑马鱼屏幕上,已知oCCDD基因 (phox2a, mafba) 的表型成功地被高效率 (70-90%) 复制.
- 确定了三种新的oCCDD候选基因:SEMA3F,OLIG2和FRMD4B,涉及骨运动发育.
- 蛋白质结合微阵列显示PHOX2A,MAFB和OLIG2.2变异的DNA结合减少或取消.
结论:
- 提名了SEMA3F,OLIG2和FRMD4B作为oCCDDs强大的新型候选基因.
- 支持PHOX2A,MAFB和OLIG2转录因子中的特定变异的致病性.
- 证明了将斑马鱼G0功能丧失查与人类遗传数据和oCCDD基因发现的蛋白质结合试验相结合的实用性.
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