{"created":"2023-06-26T11:01:08.830393+00:00","id":1770,"links":{},"metadata":{"_buckets":{"deposit":"c121b50c-139e-47c3-a360-0575fd8a7121"},"_deposit":{"created_by":29,"id":"1770","owners":[29],"pid":{"revision_id":0,"type":"depid","value":"1770"},"status":"published"},"_oai":{"id":"oai:oist.repo.nii.ac.jp:00001770","sets":["6:43"]},"author_link":["10590","10584","10583","10588","10585","10596","10586","10578","10587","10581","10589","10593","10594","10579","10582","10580","10595","10592","10591"],"item_10001_biblio_info_7":{"attribute_name":"Bibliographic Information","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2020-04-09","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"7","bibliographicPageStart":"e136041","bibliographicVolumeNumber":"5","bibliographic_titles":[{},{"bibliographic_title":"JCI Insight","bibliographic_titleLang":"en"}]}]},"item_10001_creator_3":{"attribute_name":"Author","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Lee, Eun-Jin"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Chiang, Wei-Chieh Jerry"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kroeger, Heike"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Bi, Chloe Xiaoke"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Chao, Daniel L."}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Skowronska-Krawczyk, Dorota"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Mastey, Rebecca R."}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Tsang, Stephen H."}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Chea, Leon"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kim, Kyle"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Lambert, Scott R."}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Grandjean, Julia M.D."}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Baumann, Britta"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Audo, Isabelle"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kohl, Susanne"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Moore, Anthony T."}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Wiseman, R. Luke"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Carroll, Joseph"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Lin, Jonathan H."}],"nameIdentifiers":[{}]}]},"item_10001_description_5":{"attribute_name":"Abstract","attribute_value_mlt":[{"subitem_description":"Achromatopsia (ACHM) is an autosomal recessive disease that results in severe visual loss. Symptoms of ACHM include impaired visual acuity, nystagmus, and photoaversion starting from infancy; furthermore, ACHM is associated with bilateral foveal hypoplasia and absent or severely reduced cone photoreceptor function on electroretinography. Here, we performed genetic sequencing in 3 patients from 2 families with ACHM, identifying and functionally characterizing 2 mutations in the activating transcription factor 6 (ATF6) gene. We identified a homozygous deletion covering exons 8-14 of the ATF6 gene from 2 siblings from the same family. In another patient from a different family, we identified a heterozygous deletion covering exons 2 and 3 of the ATF6 gene found in trans with a previously identified ATF6 c.970C>T (p.Arg324Cys) ACHM disease allele. Recombinant ATF6 proteins bearing these exon deletions showed markedly impaired transcriptional activity by qPCR and RNA-Seq analysis compared with WT-ATF6. Finally, RNAscope revealed that ATF6 and the related ATF6B transcripts were expressed in cones as well as in all retinal layers in normal human retina. Overall, our data identify loss-of-function ATF6 disease alleles that cause human foveal disease.","subitem_description_type":"Other"}]},"item_10001_publisher_8":{"attribute_name":"Publisher","attribute_value_mlt":[{"subitem_publisher":"American Society for Clinical Investigation"}]},"item_10001_relation_13":{"attribute_name":"PubMedNo.","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"info:pmid/32271167","subitem_relation_type_select":"PMID"}}]},"item_10001_relation_14":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"info:doi/10.1172/jci.insight.136041","subitem_relation_type_select":"DOI"}}]},"item_10001_relation_17":{"attribute_name":"Related site","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://insight.jci.org/articles/view/136041","subitem_relation_type_select":"URI"}}]},"item_10001_rights_15":{"attribute_name":"Rights","attribute_value_mlt":[{"subitem_rights":"© 2020 American Society for Clinical Investigation."}]},"item_10001_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"2379-3708","subitem_source_identifier_type":"ISSN"}]},"item_10001_version_type_20":{"attribute_name":"Author's flag","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-11-06"}],"displaytype":"detail","filename":"136041.1-20200403114732-covered-253bed37ca4c1ab43d105aefdf7b5536.pdf","filesize":[{"value":"3.0 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"136041.1-20200403114732-covered-253bed37ca4c1ab43d105aefdf7b5536","url":"https://oist.repo.nii.ac.jp/record/1770/files/136041.1-20200403114732-covered-253bed37ca4c1ab43d105aefdf7b5536.pdf"},"version_id":"ed5074de-615f-4cf0-84c9-77ecf1a7af9f"}]},"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":"Multiexon deletion alleles of ATF6 linked to achromatopsia","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Multiexon deletion alleles of ATF6 linked to achromatopsia","subitem_title_language":"en"}]},"item_type_id":"10001","owner":"29","path":["43"],"pubdate":{"attribute_name":"公開日","attribute_value":"2020-11-06"},"publish_date":"2020-11-06","publish_status":"0","recid":"1770","relation_version_is_last":true,"title":["Multiexon deletion alleles of ATF6 linked to achromatopsia"],"weko_creator_id":"29","weko_shared_id":29},"updated":"2023-06-26T11:43:29.497306+00:00"}