دورية أكاديمية
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
العنوان: | Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans. |
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المؤلفون: | Guo L; Department of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an 710061, China; National Local Joint Engineering Research Center for Precision Surgery & Regenerative Medicine, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, China; Center of Medical Genetics, Northwest Women's and Children's Hospital, the Affiliated Northwest Women's and Children's Hospital of Xi'an Jiaotong University Health Science Center, Xi'an 710003, China. Electronic address: longguo601@gmail.com., Salian S; Department of Pediatrics, CHU Sainte Justine Research Center, University of Montreal, 3175 Cote-Sainte-Catherine, Montreal, QC H3T 1C5, Canada., Xue JY; Department of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an 710061, China; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan., Rath N; Research Unit Molecular Immune Regulation, Helmholtz Zentrum München, German Research Center for Environmental Health, D-81377 Munich, Germany., Rousseau J; Department of Pediatrics, CHU Sainte Justine Research Center, University of Montreal, 3175 Cote-Sainte-Catherine, Montreal, QC H3T 1C5, Canada., Kim H; Department of Pediatrics, CHU Sainte Justine Research Center, University of Montreal, 3175 Cote-Sainte-Catherine, Montreal, QC H3T 1C5, Canada., Ehresmann S; Molecular Biology Program, Université de Montréal, Montréal, QC H3T 1J4, Canada., Moosa S; Division of Molecular Biology and Human Genetics, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Tygerberg 7505, South Africa., Nakagawa N; Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan; Department of Pediatrics, North Medical Center, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan., Kuroda H; Department of Pediatrics, Kyoto City Hospital, Kyoto 604-8845, Japan., Clayton-Smith J; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL Manchester, UK., Wang J; Department of Ultrasound, the Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710004, China., Wang Z; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL Manchester, UK., Jackson A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL Manchester, UK., Zhang YM; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Affiliated Children's Hospital of Xi'an Jiaotong University, Xi'an 710082, China., Wei ZJ; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan., Hüning I; Institute of Human Genetics, University of Lübeck, 23538 Lübeck, Germany., Brunet T; Institute of Human Genetics, School of Medicine, Technical University Munich, 80333 Munich, Germany; Department of Paediatric Neurology and Developmental Medicine, Hauner Children's Hospital, Ludwig Maximilian University of Munich, 80539 Munich, Germany., Ohashi H; Division of Medical Genetics, Saitama Children's Hospital, Saitama 330-8777, Japan., Thomas MF; Division of Gastroenterology, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Bupp C; Spectrum Health, Grand Rapids, MI 49503, USA., Miyake N; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo 162-8655, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Program in Genetics and Genome Biology, SickKids Research Institute, and Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada., Costain G; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A4, Canada., Hahn G; Institute for Radiological Diagnostics, Universitätsklinikum Carl Gustav Carus Dresden, Technische Universität, 01307 Dresden, Germany., Di Donato N; Institute for Clinical Genetics, University Hospital, TU Dresden, 01069 Dresden, Germany., Yigit G; Institute of Human Genetics, University Medical Center Göttingen, 37075 Göttingen, Germany; DZHK (German Center for Cardiovascular Research), partner site Göttingen, 37075 Göttingen, Germany., Yamada T; Department of Medical Ethics and Medical Genetics, Kyoto University School of Public Health, Kyoto 606-8501, Japan., Nishimura G; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan., Ansel KM; Department of Microbiology and Immunology, University of California San Francisco, San Francisco, CA 94143, USA., Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, 37075 Göttingen, Germany; DZHK (German Center for Cardiovascular Research), partner site Göttingen, 37075 Göttingen, Germany; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, 37075 Göttingen, Germany., Hrabě de Angelis M; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), 85764 Neuherberg, Germany; Chair of Experimental Genetics, TUM School of Life Sciences, Technische Universität München, 85354 Freising, Germany; German Center for Diabetes Research (DZD), 85764 Neuherberg, Germany., Mégarbané A; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, 1102-2801, Lebanon and Institut Jerome Lejeune, 75015 Paris, France., Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA., Heissmeyer V; Research Unit Molecular Immune Regulation, Helmholtz Zentrum München, German Research Center for Environmental Health, D-81377 Munich, Germany; Institute for Immunology, Biomedical Center, Faculty of Medicine, Ludwig-Maximilians-Universität in Munich, 82152 Planegg-Martinsried, Germany., Ikegawa S; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan., Campeau PM; Department of Pediatrics, CHU Sainte Justine Research Center, University of Montreal, 3175 Cote-Sainte-Catherine, Montreal, QC H3T 1C5, Canada. Electronic address: p.campeau@umontreal.ca. |
المصدر: | American journal of human genetics [Am J Hum Genet] 2023 Jul 06; Vol. 110 (7), pp. 1068-1085. Date of Electronic Publication: 2023 Jun 22. |
نوع المنشور: | Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE |
أسماء مطبوعة: | Publication: 2008- : [Cambridge, MA] : Cell Press Original Publication: Baltimore, American Society of Human Genetics. |
مواضيع طبية MeSH: | Exoribonucleases*/genetics , Histones*/genetics, Humans ; Mutation, Missense/genetics ; RNA, Ribosomal, 5.8S ; RNA ; RNA, Messenger/genetics |
مستخلص: | ERI1 is a 3'-to-5' exoribonuclease involved in RNA metabolic pathways including 5.8S rRNA processing and turnover of histone mRNAs. Its biological and medical significance remain unclear. Here, we uncover a phenotypic dichotomy associated with bi-allelic ERI1 variants by reporting eight affected individuals from seven unrelated families. A severe spondyloepimetaphyseal dysplasia (SEMD) was identified in five affected individuals with missense variants but not in those with bi-allelic null variants, who showed mild intellectual disability and digital anomalies. The ERI1 missense variants cause a loss of the exoribonuclease activity, leading to defective trimming of the 5.8S rRNA 3' end and a decreased degradation of replication-dependent histone mRNAs. Affected-individual-derived induced pluripotent stem cells (iPSCs) showed impaired in vitro chondrogenesis with downregulation of genes regulating skeletal patterning. Our study establishes an entity previously unreported in OMIM and provides a model showing a more severe effect of missense alleles than null alleles within recessive genotypes, suggesting a key role of ERI1-mediated RNA metabolism in human skeletal patterning and chondrogenesis. Competing Interests: Declaration of interests The Department of Molecular and Human Genetics at Baylor College of Medicine receives revenue from clinical genetic testing completed at Baylor Genetics Laboratories. (Copyright © 2023 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.) |
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فهرسة مساهمة: | Keywords: ERI1; exoribonuclease; ribosomopathy; short stature; skeletal dysplasia; spondyloepimetaphyseal dysplasia |
المشرفين على المادة: | EC 3.1.- (Exoribonucleases) 0 (Histones) 0 (RNA, Ribosomal, 5.8S) 63231-63-0 (RNA) 0 (RNA, Messenger) EC 3.1.- (ERI1 protein, human) |
تواريخ الأحداث: | Date Created: 20230623 Date Completed: 20230710 Latest Revision: 20240108 |
رمز التحديث: | 20240108 |
مُعرف محوري في PubMed: | PMC10357479 |
DOI: | 10.1016/j.ajhg.2023.06.001 |
PMID: | 37352860 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1537-6605 |
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DOI: | 10.1016/j.ajhg.2023.06.001 |