Splicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility loci

Kensuke Yamaguchi; Kazuyoshi Ishigaki; Akari Suzuki; Yumi Tsuchida; Haruka Tsuchiya; Shuji Sumitomo; Yasuo Nagafuchi; Fuyuki Miya; Tatsuhiko Tsunoda; Hirofumi Shoda; Keishi Fujio; Kazuhiko Yamamoto; Yuta Kochi

doi:10.1038/s41467-022-32358-1

Nature Communications (Aug 2022)

Splicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility loci

Kensuke Yamaguchi,
Kazuyoshi Ishigaki,
Akari Suzuki,
Yumi Tsuchida,
Haruka Tsuchiya,
Shuji Sumitomo,
Yasuo Nagafuchi,
Fuyuki Miya,
Tatsuhiko Tsunoda,
Hirofumi Shoda,
Keishi Fujio,
Kazuhiko Yamamoto,
Yuta Kochi

Affiliations

Kensuke Yamaguchi: Biomedical Engineering Research Innovation Center, Institute of Biomaterials and Bioengineering, Tokyo Medical and Dental University
Kazuyoshi Ishigaki: Laboratory for Human Immunogenetics, RIKEN Center for Integrative Medical Sciences
Akari Suzuki: Laboratory for Autoimmune Diseases, RIKEN Center for Integrative Medical Sciences
Yumi Tsuchida: Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo
Haruka Tsuchiya: Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo
Shuji Sumitomo: Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo
Yasuo Nagafuchi: Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo
Fuyuki Miya: Center for Medical Genetics, Keio University School of Medicine
Tatsuhiko Tsunoda: Laboratory for Medical Science Mathematics, Department of Biological Sciences, School of Science, The University of Tokyo
Hirofumi Shoda: Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo
Keishi Fujio: Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo
Kazuhiko Yamamoto: Laboratory for Autoimmune Diseases, RIKEN Center for Integrative Medical Sciences
Yuta Kochi: Genomic Function and Diversity, Medical Research Institute, Tokyo Medical and Dental University

DOI: https://doi.org/10.1038/s41467-022-32358-1
Journal volume & issue: Vol. 13, no. 1
pp. 1 – 13

Abstract

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Splicing QTL (sQTL), genetic variants regulating alternative splicing, can be biologically important, but complex to detect and interpret. Here, the authors identify sQTL by focusing on protein coding sequences, as an alternative to junction-based approaches.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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