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  1. 学術雑誌論文
  2. その他
  1. 部局別インデックス
  2. 医学部

An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis

http://hdl.handle.net/20.500.12000/45877
http://hdl.handle.net/20.500.12000/45877
f7b11975-b09e-4aa3-be46-1015ff6752c6
名前 / ファイル ライセンス アクション
s12882-017-0774-4.pdf s12882-017-0774-4.pdf
Item type デフォルトアイテムタイプ(フル)(1)
公開日 2020-05-22
タイトル
タイトル An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis
言語 en
作成者 Yamamura, Tomohiko

× Yamamura, Tomohiko

en Yamamura, Tomohiko

Nozu, Kandai

× Nozu, Kandai

en Nozu, Kandai

Miyoshi, Yuya

× Miyoshi, Yuya

en Miyoshi, Yuya

Nakanishi, Keita

× Nakanishi, Keita

en Nakanishi, Keita

Fujimura, Junya

× Fujimura, Junya

en Fujimura, Junya

Horinouchi, Tomoko

× Horinouchi, Tomoko

en Horinouchi, Tomoko

Minamikawa, Shogo

× Minamikawa, Shogo

en Minamikawa, Shogo

Mori, Nobuo

× Mori, Nobuo

en Mori, Nobuo

Fujimaru, Rika

× Fujimaru, Rika

en Fujimaru, Rika

Nakanishi, Koichi

× Nakanishi, Koichi

en Nakanishi, Koichi

Ninchoji, Takeshi

× Ninchoji, Takeshi

en Ninchoji, Takeshi

Kaito, Hiroshi

× Kaito, Hiroshi

en Kaito, Hiroshi

Taniguchi-Ikeda, Mariko

× Taniguchi-Ikeda, Mariko

en Taniguchi-Ikeda, Mariko

Morioka, Ichiro

× Morioka, Ichiro

en Morioka, Ichiro

Matsuo, Masafumi

× Matsuo, Masafumi

en Matsuo, Masafumi

Iijima, Kazumoto

× Iijima, Kazumoto

en Iijima, Kazumoto

アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
権利情報
言語 en
権利情報 Creative Commons Attribution 4.0 International License
言語 en
権利情報Resource http://creativecommons.org/licenses/by/4.0/
権利情報 http://creativecommons.org/licenses/by/4.0/
主題
言語 en
主題Scheme Other
主題 Autosomal recessive distal renal tubular acidosis
言語 en
主題Scheme Other
主題 ATP6V0A4
言語 en
主題Scheme Other
主題 Minigene
言語 en
主題Scheme Other
主題 Splicing assay
内容記述
内容記述タイプ Other
内容記述 Background: Autosomal recessive distal renal tubular acidosis (dRTA) is a rare hereditary disease caused by pathogenic variants in the ATP6V0A4 gene or ATP6V1B1 gene, and characterized by hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia and nephrocalcinosis. Although several intronic nucleotide variants in these genes have been detected, all of them fell in the apparent splice consensus sequence. In general, transcriptional analysis is necessary to determine the effect on function of the novel intronic variants located out of splicing consensus sequences. In recent years, functional splicing analysis using minigene construction was used to assess the pathogenicity of novel intoronic variant in various field. Methods: We investigated a sporadic case of dRTA with a compound heterozygous mutation in the ATP6V0A4 gene, revealed by next generation sequencing. One variant was already reported as pathogenic; however, the other was a novel variant in intron 11 (c. 1029 + 5G > A) falling outside of the apparent splicing consensus sequence. Expression of ATP6V0A4 was not detected in peripheral leukocytes by RT-PCR analysis. Therefore, an in vitro functional splicing study using minigene construction was conducted to analyze the splicing pattern of the novel variant. Results: A minigene assay revealed that the novel intronic variant leads to a 104 bp insertion immediately following exon 11. In addition, this result was confirmed using RNA extracted from the patient's cultured leukocytes. Conclusion: These results proved the pathogenicity of a novel intronic variant in our patient. We concluded that the minigene assay is a useful, non-invasive method for functional splicing analysis of inherited kidney disease, even if standard transcriptional analysis could not detect abnormal mRNA.
内容記述タイプ Other
内容記述 論文
出版者
言語 en
出版者 Springer Nature
言語
言語 eng
資源タイプ
資源タイプ journal article
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
識別子
識別子 http://hdl.handle.net/20.500.12000/45877
識別子タイプ HDL
関連情報
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1186/s12882-017-0774-4
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1186/s12882-017-0774-4
収録物識別子
収録物識別子タイプ ISSN
収録物識別子 1471-2369
収録物名
言語 en
収録物名 BMC Nephrology
書誌情報
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