| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2024-11-18 |
| タイトル |
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タイトル |
A de novo nonsense variant in the DMD gene associated with X‐linked dystrophin‐deficient muscular dystrophy in a cat |
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言語 |
en |
| 言語 |
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言語 |
eng |
| 資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
| 著者 |
Yokoyama, Nozomu
Matsumoto, Yuki
Yamaguchi, Takahisa
Kinoshita, Ryohei
Shimbo, Genya
Ukawa, Hisashi
Ishii, Ryuga
Nakamura, Kensuke
Yamazaki, Jumpei
Takiguchi, Mitsuyoshi
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| Abstract |
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内容記述タイプ |
Abstract |
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内容記述 |
Abstract Background: X-linked dystrophin-deficient muscular dystrophy (MD) is a form of MD caused by variants in the DMD gene. It is a fatal disease characterized by progressive weakness and degeneration of skeletal muscles. Hypothesis/Objectives: Identify deleterious genetic variants in DMD by whole- genome sequencing (WGS) using a next-generation sequencer. Animals: One MD-affected cat, its parents, and 354 cats from a breeding colony. Methods: We compared the WGS data of the affected cat with data available in the National Center for Biotechnology Information database and searched for candidate high-impact variants by in silico analyses. Next, we confirmed the candidate variants by Sanger sequencing using samples from the parents and cats from the breeding col- ony. We used 2 genome assemblies, the standard felCat9 (from an Abyssinian cat) and the novel AnAms1.0 (from an American Shorthair cat), to evaluate genome assembly differences. Results: We found 2 novel high-impact variants: a 1-bp deletion in felCat9 and an identical nonsense variant in felCat9 and AnAms1.0. Whole genome and Sanger sequencing validation showed that the deletion in felCat9 was a false positive because of misassembly. Among the 357 cats, the nonsense variant was only found in the affected cat, which indicated it was a de novo variant. Conclusion and Clinical Importance: We identified a de novo variant in the affected cat and next-generation sequencing-based genotyping of the whole DMD gene was determined to be necessary for affected cats because the parents of the affected cat did not have the risk variant. |
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言語 |
en |
| 書誌情報 |
Journal of Veterinary Internal Medicine
巻 38,
号 3,
p. 1418-1424,
発行日 2024-04-13
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| 出版者 |
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出版者 |
Wiley Periodicals LLC |
| DOI |
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識別子タイプ |
DOI |
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関連識別子 |
10.1111/jvim.17078 |
| 著者版フラグ |
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出版タイプ |
VoR |
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出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 査読 |
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内容記述タイプ |
Other |
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内容記述 |
査読あり |
chrome-extension___mhjfbmdgcfjbbpaeojofohoefgiehjai_edge_pdf_index.pdf (1.1 MB)
