通过全基因组测序来解码日本人口的三祖先起源,古老的侵入和自然选择
Xiaoxi Liu1,2, Satoshi Koyama3,4,5, Kohei Tomizuka1
1Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Science advances
|April 17, 2024
概括
日本全基因组/外基因组测序图书馆百科全书 (JEWEL) 揭示了日本人口中细微的基因结构和祖先组件. 它还确定了新的功能丧失变体和与复杂特征相关的古老细分.
科学领域:
- 基因组学就是基因组学.
- 人口遗传学 人口遗传学
- 人类遗传学 人类遗传学
背景情况:
- 微阵列数据在捕捉种群的全部遗传多样性方面存在局限性.
- 了解日本人口的遗传情景需要高深度的测序数据.
研究的目的:
- 创建和分析全基因组/外基因组测序图书馆 (JEWEL) 的日本百科全书.
- 为了揭示日本人口的新型遗传特征.
- 调查人口结构,罕见变异,古老的侵入和自然选择.
主要方法:
- 来自3256名日本人的高深度全基因组测序数据集 (JEWEL) 的生成.
- 基于罕见变体的分析,以确定细度基因结构.
- 种群遗传学分析以确定祖先组成部分.
- 功能丧失 (LoF) 变体的识别和分析.
- 在最近的自然选择下检测古老的部分和候选位置.
主要成果:
- 宝石数据集揭示了日本人口中前所未有的细度基因结构.
- 日本人口可以分解成三个祖先组成部分.
- 确定了未报告的LoF变异,其中一些基因显示受限制的LoF模式 (例如,PTPRD).
- 确定了44个古老的部分,包括与2型糖尿病相关的NKX6-1的丹尼索瓦部分,其中许多是东亚人特有的.
- 在最近的自然选择中确定了候选遗传位置.
结论:
- JEWEL数据集为日本人口的遗传特征提供了重要的见解.
- 高深度全基因组测序对于发现旧技术无法发现的遗传特征至关重要.
- 这些发现有助于更深入地了解日本人口遗传学,进化史和疾病关联.
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