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Multiexon deletion alleles of ATF6 linked to achromatopsia
https://oist.repo.nii.ac.jp/records/1770
https://oist.repo.nii.ac.jp/records/1770ca434f9f-b438-4b9c-aa22-0cabef11318b
名前 / ファイル | ライセンス | アクション |
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136041.1-20200403114732-covered-253bed37ca4c1ab43d105aefdf7b5536 (3.0 MB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2020-11-06 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Multiexon deletion alleles of ATF6 linked to achromatopsia | |||||
言語 | ||||||
言語 | eng | |||||
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(英) |
Lee, Eun-Jin
× Lee, Eun-Jin× Chiang, Wei-Chieh Jerry× Kroeger, Heike× Bi, Chloe Xiaoke× Chao, Daniel L.× Skowronska-Krawczyk, Dorota× Mastey, Rebecca R.× Tsang, Stephen H.× Chea, Leon× Kim, Kyle× Lambert, Scott R.× Grandjean, Julia M.D.× Baumann, Britta× Audo, Isabelle× Kohl, Susanne× Moore, Anthony T.× Wiseman, R. Luke× Carroll, Joseph× Lin, Jonathan H. |
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書誌情報 |
en : JCI Insight 巻 5, 号 7, p. e136041, 発行日 2020-04-09 |
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抄録 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 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. | |||||
出版者 | ||||||
出版者 | American Society for Clinical Investigation | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 2379-3708 | |||||
PubMed番号 | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | PMID | |||||
関連識別子 | info:pmid/32271167 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | info:doi/10.1172/jci.insight.136041 | |||||
権利 | ||||||
権利情報 | © 2020 American Society for Clinical Investigation. | |||||
関連サイト | ||||||
識別子タイプ | URI | |||||
関連識別子 | https://insight.jci.org/articles/view/136041 | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 |