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Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanege family with minor malformations, intellectual disability, and schizophrenia
http://hdl.handle.net/10232/00031722
http://hdl.handle.net/10232/00031722e4235e2c-3ccc-4de2-8b98-f550f67fcc8f
名前 / ファイル | ライセンス | アクション |
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Item type | 学位論文 / Thesis or Dissertation(1) | |||||
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公開日 | 2021-04-14 | |||||
タイトル | ||||||
タイトル | Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanege family with minor malformations, intellectual disability, and schizophrenia | |||||
別言語のタイトル | ||||||
その他のタイトル | 身体小奇形、知的障害と統合失調症を呈する日本人家系におけるポジショナルクローニング法と包括的変異解析による新規KDM2B遺伝子変異の同定 | |||||
著者 |
横塚, 紗永子
× 横塚, 紗永子 |
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著者よみ | ||||||
姓名 | ヨコツカ, サエコ | |||||
別言語の著者 | ||||||
姓名 | YOKOTSUKA, Saeko | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | KDM2B | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | Positional cloning | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | Haplotype analysis | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | Whole-exome sequencing | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | Histone H3 lysine 4 demethylase | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | Schizophrenia | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | Marfan syndrome-like minor physical anomalies | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_db06 | |||||
資源タイプ | doctoral thesis | |||||
アクセス権 | ||||||
アクセス権 | open access | |||||
アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
要約(Abstract) | ||||||
内容記述タイプ | Other | |||||
内容記述 | The importance of epigenetic control in the development of the central nervous system has recently been attracting attention. Methylation patterns of lysine 4 and lysine 36 in histone H3 (H3K4 and H3K36) in the central nervous system are highly conserved among species. Numerous complications of body malformations and neuropsychiatric disorders are due to abnormal histone H3 methylation modifiers. In this study, we analyzed a Japanese family with a dominant inheritance of symptoms including Marfan syndrome-like minor physical anomalies (MPAs), intellectual disability, and schizophrenia (SCZ). We performed positional cloning for this family using a single nucleotide polymorphism (SNP) array and whole-exome sequencing, which revealed a missense coding strand mutation (rs1555289644, NM_032590.4: c.2173G>A, p.A725T) in exon 15 on the plant homeodomain of the KDM2B gene as a possible cause of the disease in the family. The exome sequencing revealed that within the coding region, only a point mutation in KDM2B was present in the region with the highest logarithm of odds score of 2.41 resulting from whole genome linkage analysis. Haplotype analysis revealed co-segregation with four affected family members (IV-9, III-4, IV-5, and IV-8). Lymphoblastoid cell lines from the proband with this mutation showed approximately halved KDM2B expression in comparison with healthy controls. KDM2B acts as an H3K4 and H3K36 histone demethylase. Our findings suggest that haploinsufficiency of KDM2B in the process of development, like other H3K4 and H3K36 methylation modifiers, may have caused MPAs, intellectual disability, and SCZ in this Japanese family. | |||||
要約(Abstract) | ||||||
内容記述タイプ | Other | |||||
内容記述 | Saeko Yokotsuka-Ishida, Masayuki Nakamura, Yoko Tomiyasu, Mio Nagai, Yuko Kato, Akiyuki Tomiyasu, Hiromi Umehara, Takehiro Hayashi, Natsuki Sasaki, Shu-ichi Ueno & Akira Sano Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia Journal of Human Genetics volume 66, pages597–606 (2021) https://doi.org/10.1038/s10038-020-00889-4 |
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作成日 | ||||||
日付 | 2021-03-10 | |||||
出版タイプ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
NDC | ||||||
主題Scheme | NDC | |||||
主題 | 490 | |||||
ファイル(説明) | ||||||
内容記述タイプ | Other | |||||
内容記述 | 博士論文全文 | |||||
ファイル(説明) | ||||||
内容記述タイプ | Other | |||||
内容記述 | 博士論文要旨 | |||||
ファイル(説明) | ||||||
内容記述タイプ | Other | |||||
内容記述 | 最終試験結果の要旨 | |||||
ファイル(説明) | ||||||
内容記述タイプ | Other | |||||
内容記述 | 論文審査の要旨 | |||||
公開者・出版者 | ||||||
出版者 | 鹿児島大学 | |||||
公開者・出版者 | ||||||
出版者 | nature | |||||
公開者よみ | ||||||
公開者よみ | カゴシマ ダイガク | |||||
公開者別名 | ||||||
公開者別名 | Kagoshima University | |||||
備考 | ||||||
備考 | 【指導教員:中村雅之】 | |||||
date.appl | ||||||
【学位申請日】2021-01-05 | ||||||
学位名 | ||||||
学位名 | 博士(医学)Doctor of Philosophy in Medical Science | |||||
学位授与機関 | ||||||
学位授与機関識別子Scheme | kakenhi | |||||
学位授与機関識別子 | 17701 | |||||
学位授与機関名 | 鹿児島大学 | |||||
学位授与年月日 | ||||||
学位授与年月日 | 2021-03-17 | |||||
学位授与番号 | ||||||
学位授与番号 | 甲総研第589号 |