WEKO3
アイテム
{"_buckets": {"deposit": "9a0480d5-7dd8-4dda-81dc-53b02f551334"}, "_deposit": {"created_by": 1, "id": "5362", "owners": [1], "pid": {"revision_id": 0, "type": "depid", "value": "5362"}, "status": "published"}, "_oai": {"id": "oai:asahikawa-med.repo.nii.ac.jp:00005362", "sets": ["7", "24"]}, "author_link": ["16834", "16836", "16837", "16838", "16839", "16835"], "item_5_biblio_info_21": {"attribute_name": "書誌情報", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2015-10-01", "bibliographicIssueDateType": "Issued"}, "bibliographicIssueNumber": "84", "bibliographicPageEnd": "6", "bibliographicPageStart": "1", "bibliographicVolumeNumber": "8", "bibliographic_titles": [{"bibliographic_title": "Molecular Cytogenetics"}]}]}, "item_5_description_28": {"attribute_name": "識別番号 その他", "attribute_value_mlt": [{"subitem_description": "PMID:26523152", "subitem_description_type": "Other"}]}, "item_5_description_33": {"attribute_name": "抄録", "attribute_value_mlt": [{"subitem_description": "BACKGROUND:\n\\nGenetic aberrations in PAFAH1B1 result in isolated lissencephaly sequence (ILS), a neuronal migration disorder associated with severe mental retardation and intractable epilepsy. Approximately 60 % of patients with ILS show a 17p13.3 deletion or an intragenic variation of PAFAH1B1 that can be identified by fluorescence in situ hybridization (FISH) analysis or gene sequencing. Using multiplex ligation-dependent probe amplification (MLPA), 40-80 % of the remaining patients show small genomic deletions or duplications of PAFAH1B1. The intragenic duplications within PAFAH1B1 are predicted to abolish the PAFAH1B1 function, although a detailed characterization of the duplication regions have not been reported.\nRESULTS:\n\\nHere we describe a female patient with ILS occurring predominantly in the posterior brain regions. MLPA was used to identify a small duplication within PAFAH1B1. This result was confirmed by array-based comparative genomic hybridization analysis, revealing a duplication of the 29-kb region encompassing putative regulatory elements and exon 2 of PAFAH1B1. The region was characterized as an intragenic tandem duplication by sequencing, revealing a 28-bp microhomology sequence at the breakpoint junctions. Parental genetic testing confirmed that the tandem duplication occurred de novo. Reverse transcription-PCR on RNA extracted from peripheral blood leukocytes revealed that the expression level of PAFAH1B1 decreased to that in a patient with Miller-Dieker syndrome, a contiguous gene-deletion disorder characterized by classical lissencephaly and a facial dysmorphism.\nCONCLUSIONS:\n\\nThis study expanded the spectrum of PAFAH1B1 variants and identified a unique genomic architecture including microhomology sequences in PAFAH1B1 underlying an intragenic tandem duplication leading to ILS.", "subitem_description_type": "Abstract"}]}, "item_5_description_36": {"attribute_name": "内容記述", "attribute_value_mlt": [{"subitem_description": "the Creative Commons Attribution 4.0", "subitem_description_type": "Other"}]}, "item_5_description_37": {"attribute_name": "資源タイプ", "attribute_value_mlt": [{"subitem_description": "text", "subitem_description_type": "Other"}]}, "item_5_description_41": {"attribute_name": "フォーマット", "attribute_value_mlt": [{"subitem_description": "application/pdf", "subitem_description_type": "Other"}]}, "item_5_relation_24": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_type": "isIdenticalTo", "subitem_relation_type_id": {"subitem_relation_type_id_text": "10.1186/s13039-015-0186-8", "subitem_relation_type_select": "DOI"}}]}, "item_5_text_44": {"attribute_name": "ID(XooNIps)", "attribute_value_mlt": [{"subitem_text_value": "26523152"}]}, "item_5_text_51": {"attribute_name": "最終更新日(XooNIps)", "attribute_value_mlt": [{"subitem_text_value": "Feb 3, 2016 15:39:09"}]}, "item_5_text_53": {"attribute_name": "登録者(XooNIps)", "attribute_value_mlt": [{"subitem_text_value": "Library"}]}, "item_5_text_54": {"attribute_name": "閲覧数(XooNIps)", "attribute_value_mlt": [{"subitem_text_value": "853"}]}, "item_5_text_55": {"attribute_name": "ダウンロード数(XooNIps)", "attribute_value_mlt": [{"subitem_text_value": "1267"}]}, "item_5_text_56": {"attribute_name": "XooNIps_ITEM_KEY", "attribute_value_mlt": [{"subitem_text_value": "6338"}]}, "item_5_text_7": {"attribute_name": "著者 ローマ字", "attribute_value_mlt": [{"subitem_text_value": "Takahashi, Satoru"}, {"subitem_text_value": "Tanaka, Ryosuke"}, {"subitem_text_value": "Okano, Satomi"}, {"subitem_text_value": "Okayama, Akie"}, {"subitem_text_value": "Suzuki, Nao"}, {"subitem_text_value": "Azuma, Hiroshi"}]}, "item_5_version_type_38": {"attribute_name": "著者版フラグ", "attribute_value_mlt": [{"subitem_version_resource": "http://purl.org/coar/version/c_970fb48d4fbd8a85", "subitem_version_type": "VoR"}]}, "item_creator": {"attribute_name": "著者", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "高橋, 悟"}, {"creatorName": "タカハシ, サトル", "creatorNameLang": "ja-Kana"}], "nameIdentifiers": [{"nameIdentifier": "16834", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "田中, 亮介"}, {"creatorName": "タナカ, リョウスケ", "creatorNameLang": "ja-Kana"}], "nameIdentifiers": [{"nameIdentifier": "16835", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "岡野, 聡美"}, {"creatorName": "オカノ, サトミ", "creatorNameLang": "ja-Kana"}], "nameIdentifiers": [{"nameIdentifier": "16836", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "岡山, 亜貴恵"}, {"creatorName": "オカヤマ, アキエ", "creatorNameLang": "ja-Kana"}], "nameIdentifiers": [{"nameIdentifier": "16837", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "鈴木, 菜生"}, {"creatorName": "スズキ, ナオ", "creatorNameLang": "ja-Kana"}], "nameIdentifiers": [{"nameIdentifier": "16838", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "東, 寛"}, {"creatorName": "アズマ, ヒロシ", "creatorNameLang": "ja-Kana"}], "nameIdentifiers": [{"nameIdentifier": "16839", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": "ファイル情報", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2021-07-06"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "6338.pdf", "filesize": [{"value": "1.7 MB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 1700000.0, "url": {"label": "6338.pdf", "url": "https://asahikawa-med.repo.nii.ac.jp/record/5362/files/6338.pdf"}, "version_id": "8a5a825d-e07c-4a18-a808-104d330b8a93"}]}, "item_keyword": {"attribute_name": "キーワード", "attribute_value_mlt": [{"subitem_subject": "Duplication", "subitem_subject_scheme": "Other"}, {"subitem_subject": "Lissencephaly", "subitem_subject_scheme": "Other"}, {"subitem_subject": "Microhomology", "subitem_subject_scheme": "Other"}, {"subitem_subject": "Neuronal migration", "subitem_subject_scheme": "Other"}, {"subitem_subject": "PAFAH1B1", "subitem_subject_scheme": "Other"}]}, "item_language": {"attribute_name": "言語", "attribute_value_mlt": [{"subitem_language": "eng"}]}, "item_resource_type": {"attribute_name": "資源タイプ", "attribute_value_mlt": [{"resourcetype": "journal article", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence.", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence."}]}, "item_type_id": "5", "owner": "1", "path": ["6", "7", "24"], "permalink_uri": "https://asahikawa-med.repo.nii.ac.jp/records/5362", "pubdate": {"attribute_name": "公開日", "attribute_value": "2016-02-03"}, "publish_date": "2016-02-03", "publish_status": "0", "recid": "5362", "relation": {}, "relation_version_is_last": true, "title": ["Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence."], "weko_shared_id": -1}
Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence.
https://asahikawa-med.repo.nii.ac.jp/records/5362
https://asahikawa-med.repo.nii.ac.jp/records/536284a79165-518b-4761-9361-e5eecf427839
名前 / ファイル | ライセンス | アクション |
---|---|---|
6338.pdf (1.7 MB)
|
|
Item type | 学術雑誌論文 / Journal Article_02(1) | |||||
---|---|---|---|---|---|---|
公開日 | 2016-02-03 | |||||
タイトル | ||||||
タイトル | Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence. | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
キーワード | Duplication | |||||
キーワード | ||||||
主題Scheme | Other | |||||
キーワード | Lissencephaly | |||||
キーワード | ||||||
主題Scheme | Other | |||||
キーワード | Microhomology | |||||
キーワード | ||||||
主題Scheme | Other | |||||
キーワード | Neuronal migration | |||||
キーワード | ||||||
主題Scheme | Other | |||||
キーワード | PAFAH1B1 | |||||
資源タイプ | ||||||
資源タイプ | journal article | |||||
著者 |
高橋, 悟
× 高橋, 悟× 田中, 亮介× 岡野, 聡美× 岡山, 亜貴恵× 鈴木, 菜生× 東, 寛 |
|||||
著者 ローマ字 | ||||||
Takahashi, Satoru | ||||||
著者 ローマ字 | ||||||
Tanaka, Ryosuke | ||||||
著者 ローマ字 | ||||||
Okano, Satomi | ||||||
著者 ローマ字 | ||||||
Okayama, Akie | ||||||
著者 ローマ字 | ||||||
Suzuki, Nao | ||||||
著者 ローマ字 | ||||||
Azuma, Hiroshi | ||||||
書誌情報 |
Molecular Cytogenetics 巻 8, 号 84, p. 1-6, 発行日 2015-10-01 |
|||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1186/s13039-015-0186-8 | |||||
識別番号 その他 | ||||||
内容記述タイプ | Other | |||||
内容記述 | PMID:26523152 | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | BACKGROUND: \nGenetic aberrations in PAFAH1B1 result in isolated lissencephaly sequence (ILS), a neuronal migration disorder associated with severe mental retardation and intractable epilepsy. Approximately 60 % of patients with ILS show a 17p13.3 deletion or an intragenic variation of PAFAH1B1 that can be identified by fluorescence in situ hybridization (FISH) analysis or gene sequencing. Using multiplex ligation-dependent probe amplification (MLPA), 40-80 % of the remaining patients show small genomic deletions or duplications of PAFAH1B1. The intragenic duplications within PAFAH1B1 are predicted to abolish the PAFAH1B1 function, although a detailed characterization of the duplication regions have not been reported. RESULTS: \nHere we describe a female patient with ILS occurring predominantly in the posterior brain regions. MLPA was used to identify a small duplication within PAFAH1B1. This result was confirmed by array-based comparative genomic hybridization analysis, revealing a duplication of the 29-kb region encompassing putative regulatory elements and exon 2 of PAFAH1B1. The region was characterized as an intragenic tandem duplication by sequencing, revealing a 28-bp microhomology sequence at the breakpoint junctions. Parental genetic testing confirmed that the tandem duplication occurred de novo. Reverse transcription-PCR on RNA extracted from peripheral blood leukocytes revealed that the expression level of PAFAH1B1 decreased to that in a patient with Miller-Dieker syndrome, a contiguous gene-deletion disorder characterized by classical lissencephaly and a facial dysmorphism. CONCLUSIONS: \nThis study expanded the spectrum of PAFAH1B1 variants and identified a unique genomic architecture including microhomology sequences in PAFAH1B1 underlying an intragenic tandem duplication leading to ILS. |
|||||
注記 | ||||||
内容記述タイプ | Other | |||||
注記 | the Creative Commons Attribution 4.0 | |||||
資源タイプ | ||||||
内容記述タイプ | Other | |||||
資源タイプ | text | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
フォーマット | ||||||
内容記述タイプ | Other | |||||
内容記述 | application/pdf | |||||
ID(XooNIps) | ||||||
26523152 | ||||||
閲覧数(XooNIps) | ||||||
853 | ||||||
ダウンロード数(XooNIps) | ||||||
1267 |