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J-GLOBAL ID：201602267480490342   整理番号：16A1294032

ヒト6万706人におけるタンパク質コード領域の遺伝的変動の解析

Analysis of protein-coding genetic variation in 60,706 humans

著者 (120件)： LEK Monkol (Massachusetts General Hospital, Massachusetts, USA) ,  KARCZEWSKI Konrad J. (Massachusetts General Hospital, Massachusetts, USA) ,  MINIKEL Eric V. (Massachusetts General Hospital, Massachusetts, USA) ,  SAMOCHA Kaitlin E. (Massachusetts General Hospital, Massachusetts, USA) ,  O’DONNELL-LuURIA Anne H. (Massachusetts General Hospital, Massachusetts, USA) ,  HILL Andrew J. (Massachusetts General Hospital, Massachusetts, USA) ,  CUMMINGS Beryl B. (Massachusetts General Hospital, Massachusetts, USA) ,  TUKIAINEN Taru (Massachusetts General Hospital, Massachusetts, USA) ,  KOSMICKI Jack A. (Massachusetts General Hospital, Massachusetts, USA) ,  DUNCAN Laramie E. (Massachusetts General Hospital, Massachusetts, USA) ,  ESTRADA Karol (Massachusetts General Hospital, Massachusetts, USA) ,  ZHAO Fengmei (Massachusetts General Hospital, Massachusetts, USA) ,  PIERCE-HOFFMAN Emma (Massachusetts General Hospital, Massachusetts, USA) ,  FROMER Menachem (Massachusetts General Hospital, Massachusetts, USA) ,  GOLDSTEIN Jackie (Massachusetts General Hospital, Massachusetts, USA) ,  HOWRIGAN Daniel (Massachusetts General Hospital, Massachusetts, USA) ,  THOMAS Brett P. (Massachusetts General Hospital, Massachusetts, USA) ,  NEALE Benjamin M. (Massachusetts General Hospital, Massachusetts, USA) ,  PALOTIE Aarno (Massachusetts General Hospital, Massachusetts, USA) ,  DALY Mark J. (Massachusetts General Hospital, Massachusetts, USA) ,  MACARTHUR Daniel G. (Massachusetts General Hospital, Massachusetts, USA) ,  LEK Monkol (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  KARCZEWSKI Konrad J. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  MINIKEL Eric V. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  SAMOCHA Kaitlin E. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  BANKS Eric (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  FENNELL Timothy (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  O’DONNELL-LURIA Anne H. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  WARE James S. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  HILL Andrew J. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  CUMMINGS Beryl B. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  TUKIAINEN Taru (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  BIRNBAUM Daniel P. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  KOSMICKI Jack A. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  DUNCAN Laramie E. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  ESTRADA Karol (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  ZHAO Fengmei (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  ZOU James (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  PIERCE-HOFFMAN Emma (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  FLANNICK Jason (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  GOLDSTEIN Jackie (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  GUPTA Namrata (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  HOWRIGAN Daniel (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  KURKI Mitja I. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  NATARAJAN Pradeep (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  PELOSO Gina M. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  RIVAS Manuel A. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  STEVENS Christine (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  THOMAS Brett P. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  WEISBURD Ben (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  ALTSHULER David M. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  DONNELLY Stacey (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  FLOREZ Jose C. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  GABRIEL Stacey B. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  KATHIRESAN Sekar (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  NEALE Benjamin M. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  PALOTIE Aarno (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  SCHARF Jeremiah M. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  DALY Mark J. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  MACARTHUR Daniel G. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  LEK Monkol (Univ. Sydney, New South Wales, AUS) ,  LEK Monkol (Children’s Hospital at Westmead, New South Wales, AUS) ,  MINIKEL Eric V. (Harvard Medical School, Massachusetts, USA) ,  SAMOCHA Kaitlin E. (Harvard Medical School, Massachusetts, USA) ,  CUMMINGS Beryl B. (Harvard Medical School, Massachusetts, USA) ,  PALOTIE Aarno (Harvard Medical School, Massachusetts, USA) ,  FROMER Menachem (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  ROSE Samuel A. (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  YU Dongmei (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  MCCARROLL Steven (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  Anne H. O’Donnell-Luria (Boston Children’s Hospital, Massachusetts, USA) ,  WARE James S. (Harvard Medical School, Massachusetts, USA) ,  MCCARROLL Steven (Harvard Medical School, Massachusetts, USA) ,  WARE James S. (Imperial Coll. London, London, GBR) ,  WARE James S. (Royal Brompton Hospital, London, GBR) ,  HILL Andrew J. (Univ. Washington, Washington, USA) ,  KOSMICKI Jack A. (Harvard Medical School, Massachusetts, USA) ,  BERGHOUT Joanne (Mouse Genome Informatics, Maine, USA) ,  BERGHOUT Joanne (Univ. Arizona, Arizona, USA) ,  COOPER David N. (Cardiff Univ., Cardiff, GBR) ,  STENSON Peter D. (Cardiff Univ., Cardiff, GBR) ,  DEFLAUX Nicole (Google, California, USA) ,  DEPRISTO Mark (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  GAUTHIER Laura (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  KIEZUN Adam (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  MOONSHINE Ami Levy (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  POPLIN Ryan (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  RUANO-RUBIO Valentin (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  SHAKIR Khalid (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  TIAO Grace (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  GETZ Gad (Broad Inst. of MIT and Harvard, Massachusetts, USA) ,  DO Ron (Icahn School of Medicine at Mount Sinai, New York, USA) ,  FROMER Menachem (Icahn School of Medicine at Mount Sinai, New York, USA) ,  RUDERFER Douglas M. (Icahn School of Medicine at Mount Sinai, New York, USA) ,  PURCELL Shaun M. (Icahn School of Medicine at Mount Sinai, New York, USA) ,  SKLAR Pamela (Icahn School of Medicine at Mount Sinai, New York, USA) ,  FLANNICK Jason (Massachusetts General Hospital, Massachusetts, USA) ,  KURKI Mitja I. (Massachusetts General Hospital, Massachusetts, USA) ,  YU Dongmei (Massachusetts General Hospital, Massachusetts, USA) ,  SCHARF Jeremiah M. (Massachusetts General Hospital, Massachusetts, USA) ,  NATARAJAN Pradeep (Harvard Medical School, Massachusetts, USA) ,  FLOREZ Jose C. (Harvard Medical School, Massachusetts, USA) ,  GETZ Gad (Harvard Medical School, Massachusetts, USA) ,  KATHIRESAN Sekar (Harvard Medical School, Massachusetts, USA) ,  NATARAJAN Pradeep (Massachusetts General Hospital, Massachusetts, USA) ,  PELOSO Gina M. (Massachusetts General Hospital, Massachusetts, USA) ,  FLOREZ Jose C. (Massachusetts General Hospital, Massachusetts, USA) ,  KATHIRESAN Sekar (Massachusetts General Hospital, Massachusetts, USA) ,  OROZCO Lorena (Instituto Nacional de Medicina Genomica, Mexico City, MEX) ,  TUSIE-LUNA Maria T. (Instituto Nacional de Ciencias Medicas y Nutricion, Mexico City, MEX) ,  WON Hong-Hee (Sungkyunkwan Univ., Seoul, KOR) ,  ALTSHULER David M. (Vertex Pharmaceuticals, Massachusetts, USA) ,  ARDISSINO Diego (Univ. Hospital, Parma, ITA) ,  BOEHNKE Michael (Univ. Michigan, Michigan, USA) ,  DANESH John (Strangeways Res. Lab., Cambridge, GBR) ,  ELOSUA Roberto (Hospital del Mar Medical Res. Inst., Barcelona, ESP) ,  GLATT Stephen J. (Psychiatric Genetic Epidemiology & Neurobiology Lab., State Univ. New York, Upstate Medical Univ., New York, USA) ,  GLATT Stephen J. (Dep. of Psychiatry and Behavioral Sci., State Univ. New York, Upstate Medical Univ., New York, USA) ,  HULTMAN Christina M. (Karolinska Institutet, Stockholm, SWE) ,  LAAKSO Markku (Univ. Eastern Finland, Kuopio, FIN)
資料名： Nature (London)  (Nature (London))
巻： 536  号： 7616  ページ： 285-291  発行年： 2016年08月18日 
JST資料番号： D0193B  ISSN： 0028-0836  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： イギリス (GBR)  言語： 英語 (EN)

抄録/ポイント： ヒトの遺伝的変動の大規模な参照データセットは,DNA塩基配列変化の医学的および機能的な解釈に極めて重要である。今回我々は,ExAC(Exome Aggregation Consortium)の一環として作成された,多様な祖先系統の6万706人についての高品質エキソーム(タンパク質コード領域)DNA塩基配列データの収集およびその解析結果について報告する。ヒトの遺伝的多様性に関するこのカタログは,平均してエキソームの8塩基ごとに1個のバリアントを含んでおり,頻発性変異が広く存在する直接的証拠となる。このカタログを用いて,塩基配列バリアントの病原性の客観的な評価基準を算出し,さまざまな種類の変異に対して強力な選択を受けた遺伝子を突き止めた。予測されるタンパク質短縮バリアントをほぼ完全に除去した3230の遺伝子が同定されたが,その72%には,対応することが現在確認されているヒト疾患表現型がなかった。さらに,これらのデータは,病因バリアント候補の効率的な選別や,ヒトのタンパク質コード遺伝子における「ノックアウト」バリアントの発見に利用できることも明らかになった。Copyright Nature Japan KK 2017

シソーラス用語： ヒト ,  *遺伝子 ,  *データ ,  *遺伝学実験技術 ,  突然変異体 ,  生物多様性 ,  *エキソーム解析 ,  *オープンリーディングフレーム ,  遺伝多様性
準シソーラス用語： *翻訳領域 ,  *参照データ ,  バリアント ,  遺伝的多様性

分類 (2件)： 遺伝子の構造と化学  (EC02020U) ,  遺伝的変異  (EC01030Y)

タイトルに関連する用語 (4件)： ヒト ,  タンパク質 ,  遺伝的変動 ,  解析