文献

J-GLOBAL ID：202002256375045393   整理番号：20A0974167

中国人家族における異なる表現性を有する多指症1型を引き起こすHoxd13遺伝子のヘテロ接合性重複変異体【JST・京大機械翻訳】

A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family

著者 (37件)： Zaib Tahir (Laboratory of Medical Genetics, Harbin Medical University, Harbin, China) ,  Zaib Tahir (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China) ,  Ji Wei (Laboratory of Medical Genetics, Harbin Medical University, Harbin, China) ,  Ji Wei (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China) ,  Saleem Komal (Laboratory of Medical Genetics, Harbin Medical University, Harbin, China) ,  Saleem Komal (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China) ,  Nie Guangchen (Department of Hand Surgery the Fifth Hospital of Harbin, Harbin, China) ,  Li Chao (Department of Orthopaedic Surgery the Second Affiliated Hospital of Harbin Medical University, Harbin, China) ,  Cao Lin (Department of Hepatopancreatobiliary Surgery the Second Affiliated Hospital of Harbin Medical University, Harbin, China) ,  Xu Baijun (Department of Radiology Suihua Cancer Hospital, Suihua, China) ,  Dong Kexian (Laboratory of Medical Genetics, Harbin Medical University, Harbin, China) ,  Dong Kexian (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China) ,  Yu Hanfei (Laboratory of Medical Genetics, Harbin Medical University, Harbin, China) ,  Yu Hanfei (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China) ,  Hao Xuguang (Department of Hand Surgery the Fifth Hospital of Harbin, Harbin, China) ,  Xue Yan (Department of Hand Surgery the Fifth Hospital of Harbin, Harbin, China) ,  Si Shuhan (Laboratory of Medical Genetics, Harbin Medical University, Harbin, China) ,  Si Shuhan (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China) ,  Jia Xueyuan (Laboratory of Medical Genetics, Harbin Medical University, Harbin, China) ,  Jia Xueyuan (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China) ,  Wu Jie (Laboratory of Medical Genetics, Harbin Medical University, Harbin, China) ,  Wu Jie (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China) ,  Zhang Xuelong (Laboratory of Medical Genetics, Harbin Medical University, Harbin, China) ,  Zhang Xuelong (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China) ,  Guan Rongwei (Laboratory of Medical Genetics, Harbin Medical University, Harbin, China) ,  Guan Rongwei (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China) ,  Ji Guohua (Laboratory of Medical Genetics, Harbin Medical University, Harbin, China) ,  Ji Guohua (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China) ,  Bai Jing (Laboratory of Medical Genetics, Harbin Medical University, Harbin, China) ,  Bai Jing (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China) ,  Chen Feng (Laboratory of Medical Genetics, Harbin Medical University, Harbin, China) ,  Chen Feng (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China) ,  Liu Yong (Department of Hand Surgery the Fifth Hospital of Harbin, Harbin, China) ,  Sun Wenjing (Laboratory of Medical Genetics, Harbin Medical University, Harbin, China) ,  Sun Wenjing (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China) ,  Fu Songbin (Laboratory of Medical Genetics, Harbin Medical University, Harbin, China) ,  Fu Songbin (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China)
資料名： BMC Medical Genetics (Web)  (BMC Medical Genetics (Web))
巻： 20  号： 1  ページ： 1-9  発行年： 2019年 
JST資料番号： U7307A  ISSN： 1471-2350  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： 症候群II型として知られているSynpolydactyly 1型(SPD1)は常染色体優性肢奇形で,3番目と4番目の指のウェブ形成,4番目または5番目の足指の重複を一般的に生じる。それはHOXD13遺伝子における突然変異によって最も一般的に引き起こされる。本研究では,SPD1疾患に影響を受けた5世代の中国人家族を収集した。家族に関与するSPD1に関連する病原性変異を同定することを試みた。全ゲノム配列決定(WGS)を用いて,PCR-Sanger配列決定により後に確認されたこのファミリーにおける病原性変異体を同定した。遺伝的変異は,1000のゲノムプロジェクトの頻度で評価された。変異体の有意性を,Mutation Taster,PROVEANおよびSIFTのような異なる突然変異予測ソフトウェアを用いて評価した。変異体の分類を,アメリカの医学遺伝学とゲノム(ACMG)ガイドラインに従って評価した。著者らの結果は,HOXD13蛋白質のN末端ドメインに8つの余分なアラニン(A)残基をもたらすと予測されたヘテロ接合型のHOXD13のエキソン1における24塩基対重複の突然変異を示した。突然変異は,家族のすべての影響を受けたメンバーで検出された。HOXD13における変異体c.183_206dupAGCGGCGGCTGCGGCGGCGGCGGCの変異解析およびすべての影響を受けたファミリーメンバーにおけるその共分離に基づいて,著者らはこのSPD1ファミリーに対する病原性のような変異体を見出した。著者らの研究はHOXD13突然変異の可変発現性を強調する。著者らの結果はまた,SPD1に関与するHOXD13突然変異のスペクトルを広げる。Copyright 2020 The Author(s) All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： *ヘテロ接合 ,  *遺伝子 ,  タンパク質 ,  突然変異 ,  スペクトル ,  ゲノム ,  病原性 ,  ソフトウェア ,  優性 ,  常染色体 ,  Web【情報システム】
準シソーラス用語： ドメイン構造 ,  ゲノム配列 ,  遺伝的変異 ,  残基 , 【Automatic Indexing@JST】

著者キーワード (4件)： SPD1 ,  HOXD13 ,  全ゲノム配列決定 ,  可変表現性

分類 (1件)： 分子遺伝学一般  (EC02010J)

引用文献 (35件)：

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• Hum Mol Genet; Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families; AN Akarsu, I Stoilov, E Yilmaz, BS Sayli, M Sarfarazi; 5; 7; 1996; 945-952; 10.1093/hmg/5.7.945; citation_id=CR4
• Proc Natl Acad Sci U S A; Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract; FR Goodman, S Mundlos, Y Muragaki, D Donnai, ML Giovannucci-Uzielli, E Lapi, F Majewski, J McGaughran, C McKeown, W Reardon; 94; 14; 1997; 7458-7463; 10.1073/pnas.94.14.7458; citation_id=CR5

タイトルに関連する用語 (7件)： 中国人 ,  家族 ,  表現性 ,  多指症 ,  遺伝子 ,  ヘテロ接合性 ,  変異体