ArticleCell2014
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
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Article in Cell, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 151 papers.
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151citing papers in PubMed
9.8field-weighted citation impact, top 1% of its field
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Who cites it
151 citing papers in PubMed, 220 citations in OpenAlex.
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- The regulation, function and disease relevance of cytoplasmic tRNAs.Nature reviews. Molecular cell biology · 2026Review
- EXOSC3 G191 Variants Trigger System-Wide Recalibration of RNA Processing Machinery.bioRxiv : the preprint server for biology · 2026Article
- A Rare Case of PCH10 With CLP1 Mutation: Clinical Features and Dental Management of Riga-Fede Lesion in a Pediatric Patient.Case reports in dentistry · 2026Article
- tRNA-derived small noncoding RNAs: Roles in brain aging and neurodegenerative disorders.Zoological research · 2025Review
- The Landscape of Structural Variation in Aye-Ayes (Daubentonia madagascariensis).Genome biology and evolution · 2025Article
- Emerging roles of transfer RNA fragments in the CNS.Brain : a journal of neurology · 2025Review
- Queuosine is incorporated into precursor tRNA before splicing.Nature communications · 2025Article
- Polyglycine-mediated aggregation of FAM98B disrupts tRNA processing in GGC repeat disorders.Science (New York, N.Y.) · 2025Article
- Exploring the Potential of tsRNA as Biomarkers for Diagnosis and Treatment of Neurogenetic Disorders.Molecular neurobiology · 2025Review
- Identification and functional analysis of a novel TBC1D23 pathogenic variant in a Chinese family with pontocerebellar hypoplasia.Human genomics · 2025Article
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- RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.Nature communications · 2025Article
- Deciphering the role of tRNA-derived fragments in neurological and psychiatric disease pathogenesis.Frontiers in cellular neuroscience · 2025Review
- Pontocerebellar hypoplasia: a review from 1912 to 2022.Brain communications · 2025Review
- tsRNAs: A Prospective, Effective Therapeutic Intervention for Neurodegenerative Diseases.CNS neuroscience & therapeutics · 2024Review
- Biochemical and structural insights into a 5' to 3' RNA ligase reveal a potential role in tRNA ligation.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.Cerebellum (London, England) · 2024Article
- Roles and regulation of tRNA-derived small RNAs in animals.Nature reviews. Molecular cell biology · 2024Review
- Biochemical and structural insights into a 5' to 3' RNA ligase reveal a potential role in tRNA ligation.bioRxiv : the preprint server for biology · 2024Article
91 more citing papers are in PubMed but not listed here.
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Authors and funding
45 authors at 13 institutions in 5 countries.
Ender KaracaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Stefan WeitzerInstitute of Molecular Biotechnology (IMBA) of the Austrian Academy of Sciences, 1030 Vienna, Austria.
Davut PehlivanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Hiroshi ShiraishiInstitute of Molecular Biotechnology (IMBA) of the Austrian Academy of Sciences, 1030 Vienna, Austria.
Tasos GogakosHoward Hughes Medical Institute, Laboratory of RNA Molecular Biology, Rockefeller University, New York, NY 10065, USA.
Toshikatsu HanadaInstitute of Molecular Biotechnology (IMBA) of the Austrian Academy of Sciences, 1030 Vienna, Austria; Medical Innovation Center, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan.
Shalini N JhangianiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Wojciech WiszniewskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Marjorie WithersDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Ian M CampbellDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Serkan ErdinCenter for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
Sedat IsikayGaziantep Children's Hospital, Gaziantep 27560, Turkey.
Luis M FrancoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA.
Claudia Gonzaga-JaureguiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Tomasz GambinDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Violet GelowaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jill V HunterDepartment of Pediatric Radiology, Texas Children's Hospital, Houston, TX 77030, USA.
Gozde YesilDepartment of Medical Genetics, Bezmialem University, Istanbul 34093, Turkey.
Erkan KoparirDepartment of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Sarenur YilmazIstanbul Medeniyet University, Faculty of Medicine, Department of Medical Genetics, Istanbul 34730, Turkey.
Miguel BrownHoward Hughes Medical Institute, Laboratory of RNA Molecular Biology, Rockefeller University, New York, NY 10065, USA.
Daniel BriskinHoward Hughes Medical Institute, Laboratory of RNA Molecular Biology, Rockefeller University, New York, NY 10065, USA.
Markus HafnerHoward Hughes Medical Institute, Laboratory of RNA Molecular Biology, Rockefeller University, New York, NY 10065, USA.
Pavel MorozovHoward Hughes Medical Institute, Laboratory of RNA Molecular Biology, Rockefeller University, New York, NY 10065, USA.
Thalia A FaraziHoward Hughes Medical Institute, Laboratory of RNA Molecular Biology, Rockefeller University, New York, NY 10065, USA.
Christian BernreutherInstitute of Neuropathology, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany.
Markus GlatzelInstitute of Neuropathology, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany.
Siegfried TrattnigDepartment of Radiology, MR Center of Excellence, Medical University of Vienna, Vienna 1090, Austria.
Joachim FriskeDepartment of Radiology, MR Center of Excellence, Medical University of Vienna, Vienna 1090, Austria.
Claudia KronnerwetterDepartment of Radiology, MR Center of Excellence, Medical University of Vienna, Vienna 1090, Austria.
Matthew N BainbridgeHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Alper GezdiriciDepartment of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Mehmet SevenDepartment of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Donna M MuznyHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Eric BoerwinkleHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Mustafa OzenDepartment of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Baylor Hopkins Center for Mendelian Genomics
Tim ClausenInstitute of Molecular Pathology (IMP), 1030 Vienna, Austria.
Thomas TuschlHoward Hughes Medical Institute, Laboratory of RNA Molecular Biology, Rockefeller University, New York, NY 10065, USA.
Adnan YukselDepartment of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Andreas HessInstitute for Experimental Pharmacology, Friedrich-Alexander University Erlangen-Nuremberg, 91054 Erlangen, Germany; Campus Support Facility (CSF), Vienna BioCentre, Vienna 1030, Austria.
Richard A GibbsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Javier MartinezInstitute of Molecular Biotechnology (IMBA) of the Austrian Academy of Sciences, 1030 Vienna, Austria. Electronic address: javier.martinez@imba.oeaw.ac.at.
Josef M PenningerInstitute of Molecular Biotechnology (IMBA) of the Austrian Academy of Sciences, 1030 Vienna, Austria. Electronic address: josef.penninger@imba.oeaw.ac.at.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: jlupski@bcm.edu.
Baylor College of Medicine · USHoward Hughes Medical Institute · USInstitute of Molecular Biotechnology · ATIstanbul University · TRMedical University of Vienna · ATUniversität Hamburg · DEBezmiâlem Vakıf Üniversitesi · TRFriedrich-Alexander-Universität Erlangen-Nürnberg · DEGaziantep Children's Hospital · TRIstanbul Medeniyet University · TRMassachusetts General Hospital · USResearch Institute of Molecular Pathology · ATTexas Children's Hospital · US
Funding
The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MWeill Cornell/Rockefeller/Sloan-Kettering MST ProgramT32GM007739 · NIGMS · WEILL MEDICAL COLL OF CORNELL UNIV · PI HSU, KATHARINE C · 1985 to 2023
$51.1MBaylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6MNonrecurrent rearrangements, genome architecture and neurodegenerative disease.R01NS058529 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2009 to 2017
$5.0MGenome analysis to elucidate molecular mechanisms for peripheral neuropathiesK23NS078056 · NINDS · OREGON HEALTH & SCIENCE UNIVERSITY · PI WISZNIEWSKI, WOJCIECH KRZYSZTOF · 2012 to 2016
$783kGenome-wide genetic variation in the human immune response to influenza vaccinesK23AI087821 · NIAID · BAYLOR COLLEGE OF MEDICINE · PI FRANCO, LUIS MIGUEL · 2010 to 2013
$526kNHGRI NIH HHS U54 HG003273NHGRI NIH HHS U54 HG006542NHGRI NIH HHS U54HG006542NIAID NIH HHS 1K23AI087821-01NIAID NIH HHS K23 AI087821NIGMS NIH HHS T32 GM007739NINDS NIH HHS K23 NS078056NINDS NIH HHS K23NS078056NINDS NIH HHS R01 NS058529NINDS NIH HHS R01NS058529
Abstract
CLP1 is a RNA kinase involved in tRNA splicing. Recently, CLP1 kinase-dead mice were shown to display a neuromuscular disorder with loss of motor neurons and muscle paralysis. Human genome analyses now identified a CLP1 homozygous missense mutation (p.R140H) in five unrelated families, leading to a loss of CLP1 interaction with the tRNA splicing endonuclease (TSEN) complex, largely reduced pre-tRNA cleavage activity, and accumulation of linear tRNA introns. The affected individuals develop severe motor-sensory defects, cortical dysgenesis, and microcephaly. Mice carrying kinase-dead CLP1 also displayed microcephaly and reduced cortical brain volume due to the enhanced cell death of neuronal progenitors that is associated with reduced numbers of cortical neurons. Our data elucidate a neurological syndrome defined by CLP1 mutations that impair tRNA splicing. Reduction of a founder mutation to homozygosity illustrates the importance of rare variations in disease and supports the clan genomics hypothesis.
Indexed as
Mutation, MissenseAbnormalities, MultipleAnimalsCentral Nervous System DiseasesCerebrumChild, PreschoolEndoribonucleasesFemaleFibroblastsHumansInfantMaleMiceMice, Inbred CBAMicrocephalyNuclear ProteinsCLP1 protein, humanEndoribonucleasesHexim1 protein, mouseNuclear ProteinsPhosphotransferasesRNA-Binding ProteinsRNA, Transfersplicing endonucleaseTranscription Factors
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