整个外体的分析表明,在人类手性中,罕见的蛋白质改变变体存在
Dick Schijven1,2, Sourena Soheili-Nezhad1, Simon E Fisher1,2
1Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
Nature communications
|April 2, 2024
概括
罕见的遗传变异影响左撇子,特别是在β-蛋白基因TUBB4B中. 这一发现表明微管和与神经发育障碍相关的基因在手性中起着作用.
科学领域:
- 神经遗传学 神经遗传学
- 人类遗传学 人类遗传学
- 大脑的不对称性
背景情况:
- 手性反映了大脑的专业化,左撇子在神经发育障碍中更常见.
- 以前的遗传研究发现了影响基因表达的常见变异,涉及微管相关基因.
研究的目的:
- 调查罕见的编码变体 (≤1%频率) 在左撇子中所起的作用.
- 分析来自大量左撇子和右撇子群体的外体数据.
主要方法:
- 来自英国生物库参与者 (38,043 左撇子, 313,271 右撇子) 的外体序列数据.
- 关联分析以确定与左撇子相关的罕见编码变体.
- 检查涉及的基因,包括TUBB4B,DSCAM和FOXP1.
主要成果:
- 在β-突蛋白基因TUBB4B中的罕见编码变异与左撇子之间存在显著的关联 (左撇子的发病率是左撇子的2.7倍).
- 在TUBB4B特定于左撇子的异合体误解和移变体的识别.
- 有证据表明,DSCAM和FOXP1中的罕见编码变体与左撇子有关.
结论:
- 罕见的,改变蛋白质的变体有助于左撇子.
- 这项研究突出显示了微管和与自闭症和精神分裂症相关的基因在双手性中的参与.
- 归因于罕见的编码变体的左撇子的外体广泛遗传率为0.91%.
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