Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

Author:

Beck David B.12ORCID,Basar Mohammed A.2ORCID,Asmar Anthony J.2ORCID,Thompson Joyce J.3ORCID,Oda Hirotsugu1,Uehara Daniela T.4,Saida Ken5ORCID,Pajusalu Sander678ORCID,Talvik Inga9,D’Souza Precilla10ORCID,Bodurtha Joann11ORCID,Mu Weiyi11ORCID,Barañano Kristin W.12,Miyake Noriko5,Wang Raymond1314ORCID,Kempers Marlies15,Tamada Tomoko16ORCID,Nishimura Yutaka17,Okada Satoshi18ORCID,Kosho Tomoki19,Dale Ryan20,Mitra Apratim20ORCID,Macnamara Ellen21ORCID,Matsumoto Naomichi5ORCID,Inazawa Johji4,Walkiewicz Magdalena22,Õunap Katrin67ORCID,Tifft Cynthia J.1021ORCID,Aksentijevich Ivona1ORCID,Kastner Daniel L.1ORCID,Rocha Pedro P.323ORCID,Werner Achim2ORCID,

Affiliation:

1. Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

2. Stem Cell Biochemistry Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA.

3. Unit on Genome Structure and Regulation, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

4. Department of Molecular Cytogenetics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.

5. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.

6. Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

7. Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

8. Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.

9. Department of Neurology and Rehabilitation, Tallinn Children’s Hospital, Tallinn, Estonia.

10. Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

11. Department of Genetic Medicine, Johns Hopkins Hospital, Baltimore, MD 21287, USA.

12. Department of Neurology, Johns Hopkins Hospital, Baltimore, MD 21287, USA.

13. Division of Metabolic Disorders, CHOC Children’s Specialists, Orange, CA 92868, USA.

14. Department of Pediatrics, University of California Irvine School of Medicine, Orange, CA 92967, USA.

15. Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.

16. Department of Pediatrics, Hiroshima Prefectural Rehabilitation Center, Hiroshima, Japan.

17. Department of General Perinatology, Hiroshima City Hiroshima Citizens Hospital, Hiroshima, Japan.

18. Department of Pediatrics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.

19. Department of Medical Genetics, Shinshu University School of Medicine, Nagano, Japan.

20. Bioinformatics and Scientific Programming Core, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

21. Undiagnosed Diseases Program, The Common Fund, Office of the Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

22. National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD 20892, USA.

23. National Cancer Institute, NIH, Bethesda, MD 20892, USA.

Abstract

Disease-causing mutations in a linkage-specific deubiquitylase provide insights into chromatin remodeling during embryogenesis.

Funder

National Human Genome Research Institute

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

National Institute of Dental and Craniofacial Research

National Institute of Child Health and Human Development

National Institute of Allergy and Infectious Diseases

Estonian Research Council

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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