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Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan
http://hdl.handle.net/10091/16873
http://hdl.handle.net/10091/168733b487208-57eb-42e1-89da-8e90afce20d9
| 名前 / ファイル | ライセンス | アクション |
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Analysis_insertion_mutation_cohort_94_patients.pdf (443.4 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2013-04-01 | |||||
| タイトル | ||||||
| タイトル | Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| DOI | ||||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | https://doi.org/10.1007/s10048-010-0245-6 | |||||
| 関連名称 | 10.1007/s10048-010-0245-6 | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | SCA31 | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | 16q-ADCA | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Puratrophin-1 | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Penta-nucleotide repeats | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Insertion | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| 著者 |
Sakai, Haruya
× Sakai, Haruya× Yoshida, Kunihiro× Shimizu, Yusaku× Morita, Hiroshi× Ikeda, Shu-ichi× Matsumoto, Naomichi |
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| 信州大学研究者総覧へのリンク | ||||||
| 表示名 | Yoshida, Kunihiro | |||||
| URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.yhfNHFkh.html | |||||
| 信州大学研究者総覧へのリンク | ||||||
| 表示名 | Morita, Hiroshi | |||||
| URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.HUyNHhkh.html | |||||
| 出版者 | ||||||
| 出版者 | SPRINGER | |||||
| 引用 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | NEUROGENETICS. 11(4):409-415 (2010) | |||||
| 書誌情報 |
NEUROGENETICS 巻 11, 号 4, p. 409-415, 発行日 2010-10 |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Spinocerebellar ataxia type 31 (SCA31) is a recently defined subtype of autosomal dominant cerebellar ataxia (ADCA) characterized by adult-onset, pure cerebellar ataxia. The C/T substitution in the 5'-untranslated region of the puratrophin-1 gene (PLEKHG4) or a disease-specific haplotype within the 900-kb SCA31 critical region just upstream of PLEKHG4 has been used for the diagnosis of SCA31. Very recently, a disease-specific insertion containing penta-nucleotide (TGGAA)(n) repeats has been found in this critical region in SCA31 patients. SCA31 was highly prevalent in Nagano, Japan, where SCA31 accounts for approximately 42% of ADCA families. We screened the insertion in 94 SCA31 patients from 71 families in Nagano. All patients had a 2.6- to 3.7-kb insertion. The size of the insertion was inversely correlated with the age at onset but not associated with the progression rate after onset. (TAGAA)(n) repeats at the 5'-end of the insertion were variable in number, ranging from 0 (without TAGAA sequence) to 4. The number of (TAGAA)(n) repeats was inversely correlated to the total size of the insertion. The number of (TAGAA)(n) repeats was comparatively uniform within patients from the three endemic foci in Nagano. Only one patient, heterozygous for the C/T substitution in PLEKHG4, had the insertions in both alleles; they were approximately 3.0 and 4.3 kb in size. Sequencing and Southern hybridization using biotin-labeled (TGGAA)(5) probe strongly indicated that the 3.0-kb insertion, but not the 4.3-kb insertion, contained (TGGAA)(n) stretch. We also found that 3 of 405 control individuals (0.7%) had the insertions from 1.0 to 3.5 kb in length. They were negative for the C/T substitution in PLEKHG4, and neither of the insertions contained (TGGAA)(n) stretch at their 5'-end by sequencing. The insertions in normal controls were clearly detected by Southern hybridization using (TAAAA)(5) probe, while they were not labeled with (TGGAA)(5) or (TAGAA)(5) probe. These data indicate that control alleles very rarely have a nonpathogenic large insertion in the SCA31 critical region and that not only the presence of the insertion but also its size is not sufficient evidence for a disease-causing allele. We approve of the view that (TGGAA)(n) repeats in the insertion are indeed related to the pathogenesis of SCA31, but it remains undetermined whether a large insertion lacking (TGGAA)(n) is nonpathogenic. | |||||
| 資源タイプ（コンテンツの種類） | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Article | |||||
| ISSN | ||||||
| 収録物識別子タイプ | PISSN | |||||
| 収録物識別子 | 1364-6745 | |||||
| 書誌レコードID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA11157054 | |||||
| PubMed | ||||||
| 識別子タイプ | PMID | |||||
| 関連識別子 | https://pubmed.ncbi.nlm.nih.gov/20424877 | |||||
| 関連名称 | 20424877 | |||||
| 権利 | ||||||
| 権利情報 | The original publication is available at www.springerlink.com | |||||
| 出版タイプ | ||||||
| 出版タイプ | AM | |||||
| 出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
| WoS | ||||||
| 表示名 | Web of Science | |||||
| URL | http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000282183200005 | |||||
