{"created":"2023-06-20T15:49:26.888269+00:00","id":4038,"links":{},"metadata":{"_buckets":{"deposit":"85e49627-1fc8-43ff-942b-0f4149be910f"},"_deposit":{"created_by":4,"id":"4038","owners":[4],"pid":{"revision_id":0,"type":"depid","value":"4038"},"status":"published"},"_oai":{"id":"oai:hama-med.repo.nii.ac.jp:00004038","sets":["1:11"]},"author_link":["12521","12522","12523","12524","12525","12526","12527","12528","12529"],"item_3_biblio_info_5":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2022-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"5","bibliographicPageEnd":"306","bibliographicPageStart":"303","bibliographicVolumeNumber":"67","bibliographic_titles":[{"bibliographic_title":"Journal of Human Genetics"}]}]},"item_3_description_9":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"X-linked dominant chondrodysplasia punctata (CDPX2) is a rare congenital disorder caused by pathogenic variants in EBP on Xp11.23. We encountered a girl and her mother with CDPX2-compatible phenotypes including punctiform calcification in the neonatal period of the girl, and asymmetric limb shortening and ichthyosis following the Blaschko lines in both subjects. Although Sanger direct sequencing failed to reveal a disease-causing variant in EBP, whole genome sequencing (WGS) followed by Manta analysis identified a ~ 4.5 kb insertion at EBP exon 2 of both subjects. The insertion was associated with the hallmarks of retrotransposition such as an antisense poly(A) tail, a target site duplication, and a consensus endonuclease cleavage site, and the inserted sequence harbored full-length SVA_F1 element with 5′- and 3′-transductions containing the Alu sequence. The results imply the relevance of retrotransposition to the human genetic diseases and the usefulness of WGS in the identification of retrotransposition.","subitem_description_type":"Abstract"}]},"item_3_publisher_6":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Springer Nature"}]},"item_3_relation_26":{"attribute_name":"PubMed番号","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"34999728","subitem_relation_type_select":"PMID"}}]},"item_3_relation_28":{"attribute_name":"出版社DOI","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"10.1038/s10038-021-01000-1","subitem_relation_type_select":"DOI"}}]},"item_3_rights_7":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"This version of the article has been accepted for publication, after peer review (when applicable) and is subject to Springer Nature’s AM terms of use, but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections. The Version of Record is available online at: https://doi.org/10.1038/s10038-021-01000-1"}]},"item_3_source_id_19":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"1434-5161","subitem_source_identifier_type":"ISSN"}]},"item_3_source_id_20":{"attribute_name":"EISSN","attribute_value_mlt":[{"subitem_source_identifier":"1435-232X","subitem_source_identifier_type":"ISSN"}]},"item_3_version_type_32":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Hiraide, Takuya"}],"nameIdentifiers":[{"nameIdentifier":"12521","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Masunaga, Yohei"}],"nameIdentifiers":[{"nameIdentifier":"12522","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Honda, Akira"}],"nameIdentifiers":[{"nameIdentifier":"12523","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Kato, Fumiko"}],"nameIdentifiers":[{"nameIdentifier":"12524","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Fukuda, Tokiko "}],"nameIdentifiers":[{"nameIdentifier":"12525","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Fukami, Maki"}],"nameIdentifiers":[{"nameIdentifier":"12526","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Nakashima, Mitsuko"}],"nameIdentifiers":[{"nameIdentifier":"12527","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Saitsu, Hirotomo"}],"nameIdentifiers":[{"nameIdentifier":"12528","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Ogata, Tsutomu"}],"nameIdentifiers":[{"nameIdentifier":"12529","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":"2022-07-28"}],"displaytype":"detail","filename":"J Hum Genet-67-303.pdf","filesize":[{"value":"1.2 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"J Hum Genet-67-303.pdf","url":"https://hama-med.repo.nii.ac.jp/record/4038/files/J Hum Genet-67-303.pdf"},"version_id":"02ae49c6-b0ba-4cd4-882e-09dc69980881"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"X-linked dominant chondrodysplasia punctata","subitem_subject_scheme":"Other"},{"subitem_subject":"EBP","subitem_subject_scheme":"Other"},{"subitem_subject":"whole genome sequencing","subitem_subject_scheme":"Other"},{"subitem_subject":"retrotransposition","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":"Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata","subitem_title_language":"en"}]},"item_type_id":"3","owner":"4","path":["11"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2022-07-09"},"publish_date":"2022-07-09","publish_status":"0","recid":"4038","relation_version_is_last":true,"title":["Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata"],"weko_creator_id":"4","weko_shared_id":-1},"updated":"2023-08-02T07:16:49.870625+00:00"}