2,504 人のゲノムにおける構造的変化の統合地図

Peter H Sudmant¹, Tobias Rausch², Eugene J Gardner³

¹Department of Genome Sciences, University of Washington, 3720 15th Ave NE, Seattle, WA 98195-5065, USA.

Nature

|October 4, 2015

まとめ

この研究は,ヒトゲノムの多様な構造変異をカタログ化し,集団の違いと遺伝子機能におけるその役割を明らかにしています. これらの発見は遺伝的多様性とその健康への影響を理解する上で進歩を遂げています

科学分野:

ゲノミクス
人間の遺伝子
人口遺伝学

背景:

構造変異 (SV) はヒトの遺伝的多様性の主要な源であり,多くの病気に関与しています.
様々な集団におけるSVの状況と影響を理解することは,ヒト遺伝学の研究にとって極めて重要です.

研究の目的:

構造変数の8つのクラスの統合カタログを作成します.
これらの変数の人口層分化と機能的影響を分析する.

主な方法:

短読DNAシーケンスデータを 26人の集団から利用した
ハプロタイプブロックに統計的に段階的な構造変異がある.
バランスと不均衡のバリエーションクラスの統合分析

主要な成果:

集団特異的なパターンを持つ多数の遺伝子交差 SV を特定した.
自然に発生するホモジゴス遺伝子ノックアウトが発見され, 遺伝子の不要性を示唆しています.
全ゲノム関連研究 (GWAS) のハプロタイプと発現量的な特徴ロキ (eQTL) のSV濃縮が確認された.
複数のブレイクポイントとクラスター化された再配置を持つ複雑なSVを発見した.

結論:

総合的なSVカタログは,遺伝的多様性を研究するための貴重なリソースを提供します.
SVはヒトの遺伝的多様性,遺伝子機能,疾患関連において重要な役割を果たします.
SVの人口統計,機能的影響,疾患の関連性に関するさらなる研究が必要である.

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