文献

J-GLOBAL ID：201902282736879569   整理番号：19A1573817

複雑な形質であるArthrogryposisのゲノミクス:候補遺伝子とオリゴ遺伝的遺伝の更なる証拠【JST・京大機械翻訳】

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

著者 (54件)： Pehlivan Davut (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Pehlivan Davut (Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Bayram Yavuz (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Bayram Yavuz (Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA) ,  Gunes Nilay (Department of Pediatric Genetics, Istanbul University-Cerrahpasa Medical Faculty, Istanbul 34096, Turkey) ,  Coban Akdemir Zeynep (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Shukla Anju (Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India) ,  Bierhals Tatjana (Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, Hamburg 20246, Germany) ,  Tabakci Burcu (Department of Pediatric Genetics, Marmara University Medical School, Istanbul 34854, Turkey) ,  Sahin Yavuz (Department of Medical Genetics, Necip Fazil City Hospital, Kahramanmaras 46050, Turkey) ,  Gezdirici Alper (Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey) ,  Fatih Jawid M. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Gulec Elif Yilmaz (Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey) ,  Yesil Gozde (Department of Medical Genetics, Bezmi Alem Vakif University Faculty of Medicine, Istanbul 34093, Turkey) ,  Punetha Jaya (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Ocak Zeynep (Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey) ,  Grochowski Christopher M. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Karaca Ender (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Albayrak Hatice Mutlu (Department of Pediatrics, Division of Pediatric Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun 55270, Turkey) ,  Radhakrishnan Periyasamy (Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India) ,  Erdem Haktan Bagis (Department of Medical Genetics, University of Health Sciences, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara 06110, Turkey) ,  Sahin Ibrahim (Department of Medical Genetics, University of Erzurum, School of Medicine, Erzurum 25240, Turkey) ,  Yildirim Timur (Department of Orthopedics and Traumatology, Baltalimani Bone Diseases Training and Research Hospital, Istanbul 34470, Turkey) ,  Bayhan Ilhan A. (Department of Orthopedics and Traumatology, Baltalimani Bone Diseases Training and Research Hospital, Istanbul 34470, Turkey) ,  Bursali Aysegul (Department of Orthopedics and Traumatology, Baltalimani Bone Diseases Training and Research Hospital, Istanbul 34470, Turkey) ,  Elmas Muhsin (Department of Medical Genetics, Afyon Kocatepe University, School of Medicine, Afyon 03218, Turkey) ,  Yuksel Zafer (Medical Genetics Clinic, Mersin Women and Children Hospital, Mersin 33330, Turkey) ,  Ozdemir Ozturk (Department of Medical Genetics, Faculty of Medicine, Onsekiz Mart University, Canakkale 17000, Turkey) ,  Silan Fatma (Department of Medical Genetics, Faculty of Medicine, Onsekiz Mart University, Canakkale 17000, Turkey) ,  Yildiz Onur (Department of Medical Genetics, Faculty of Medicine, Onsekiz Mart University, Canakkale 17000, Turkey) ,  Yesilbas Osman (Division of Critical Care Medicine, Department of Pediatrics, University of Health Sciences, Van Training and Research Hospital, Van 65130, Turkey) ,  Isikay Sedat (Department of Physiotherapy and Rehabilitation, Hasan Kalyoncu University, School of Health Sciences, Gaziantep 27000, Turkey) ,  Balta Burhan (Department of Medical Genetics, Kayseri Training and Research Hospital, Kayseri 38080, Turkey) ,  Gu Shen (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Jhangiani Shalini N. (Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA) ,  Doddapaneni Harsha (Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA) ,  Hu Jianhong (Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA) ,  Muzny Donna M. (Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA) ,  Boerwinkle Eric (Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA) ,  Boerwinkle Eric (Human Genetics Center, University of Texas Health Science Center at Houston School of Public Health, Houston, TX, USA) ,  Gibbs Richard A. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Gibbs Richard A. (Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA) ,  Tsiakas Konstantinos (Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany) ,  Hempel Maja (Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, Hamburg 20246, Germany) ,  Girisha Katta Mohan (Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India) ,  Gul Davut (Department of Medical Genetics, Gulhane Military Medical School, Ankara 06010, Turkey) ,  Posey Jennifer E. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Elcioglu Nursel H. (Department of Pediatric Genetics, Marmara University Medical School, Istanbul 34854, Turkey) ,  Elcioglu Nursel H. (Eastern Mediterranean University School of Medicine, Cyprus, Mersin 10, Turkey) ,  Tuysuz Beyhan (Department of Pediatric Genetics, Istanbul University-Cerrahpasa Medical Faculty, Istanbul 34096, Turkey) ,  Lupski James R. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Lupski James R. (Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA) ,  Lupski James R. (Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Lupski James R. (Texas Children’s Hospital, Houston, TX 77030, USA)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 105  号： 1  ページ： 132-150  発行年： 2019年 
JST資料番号： B0360B  ISSN： 0002-9297  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 関節症は,神経筋状態の特徴または400以上のメンデル状態における全身性疾患の一部として存在する臨床所見である。基礎となる分子的病因は,遺伝的および表現型不均一性のためにほとんど未知のままである。著者らは,関節症の臨床徴候を有する89家族のコホートにおいて,exomeシークエンシング(ES)を適用した。配列比較ゲノムハイブリダイゼーション(aCGH)およびDroplet Digital PCR(ddPCR)を含む付加的分子技術を,それぞれ病原性コピー数変異体(CNVs)およびモザイク性を有することが見出された個体について実施した。家族の65.2%(58/89)に分子診断を確立した。58の家族のうち11(19.0%)は,1つ以上の遺伝子座における病原性変異の潜在的関与の証拠を示した。これは,恐らく,同一性(IBD)によるヘテロ接合性(AOH)負荷の欠如により駆動される。RyR3,MYOM2,ERGIC1,SPTBN4,およびABCA7は,2つ以上の家族で同定された遺伝子を代表し,突然変異がおそらく関節症の原因となる可能性がある。著者らはまた,関節症の病因におけるCNVsの関与に対する証拠を提供し,同じ遺伝子における単一対立遺伝子および二対立遺伝子変異体の両方が類似または異なる症候群のどちらかを引き起こすという考えに対する証拠を提供する。再解析を受けた20家族のうち9人において分子病因を同定することができた。まとめると,家族に基づくESからの著者らのデータは,関節症の分子病因をさらに描写し,いくつかの候補疾患関連遺伝子をもたらし,生物学的経路またはネットワークにおける突然変異負荷の証拠を提供する。著者らの研究はまた,配列決定されたファミリーメンバーとの関連において,未解明の診断による個人の再解析の重要性を強調する。Copyright 2019 Elsevier B.V., Amsterdam. All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： 突然変異 ,  病原性 ,  関節疾患 ,  病因 ,  対立遺伝子 ,  *遺伝子 ,  *遺伝 ,  表現型 ,  変異 ,  母集団
準シソーラス用語： 再解析 ,  アレイCGH ,  配列解析 ,  *候補遺伝子 ,  *ゲノミクス , 【Automatic Indexing@JST】

著者キーワード (8件)： 関節拘縮症 ,  多遺伝子座病原性変異 ,  TRIOエクソーム ,  ES再解析 ,  アイデンティティ・バイ・ダウン ,  ヘテロ接合性の欠如 ,  関節拘縮 ,  神経筋疾患

分類 (1件)： 遺伝的変異  (EC01030Y)

タイトルに関連する用語 (5件)： 形質 ,  ゲノミクス ,  候補遺伝子 ,  遺伝 ,  証拠