Evidence map›Paper›PMID 37352860›Full record

ArticleAmerican journal of human genetics2023

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

Long Guo, Smrithi Salian, Jing-Yi Xue, Nicola Rath, Justine Rousseau, Hyunyun Kim, Sophie Ehresmann, Shahida Moosa, Norio Nakagawa, Hiroshi Kuroda and 29 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.9field-weighted citation impact, top 25% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Roles of ribosomal RNA in health and disease.Frontiers in RNA research · 2023
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

39 authors at 20 institutions in 8 countries.

Long GuoDepartment 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.
Smrithi SalianDepartment of Pediatrics, CHU Sainte Justine Research Center, University of Montreal, 3175 Cote-Sainte-Catherine, Montreal, QC H3T 1C5, Canada.
Jing-Yi XueDepartment 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.
Nicola RathResearch Unit Molecular Immune Regulation, Helmholtz Zentrum München, German Research Center for Environmental Health, D-81377 Munich, Germany.
Justine RousseauDepartment of Pediatrics, CHU Sainte Justine Research Center, University of Montreal, 3175 Cote-Sainte-Catherine, Montreal, QC H3T 1C5, Canada.
Hyunyun KimDepartment of Pediatrics, CHU Sainte Justine Research Center, University of Montreal, 3175 Cote-Sainte-Catherine, Montreal, QC H3T 1C5, Canada.
Sophie EhresmannMolecular Biology Program, Université de Montréal, Montréal, QC H3T 1J4, Canada.
Shahida MoosaDivision of Molecular Biology and Human Genetics, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Tygerberg 7505, South Africa.
Norio NakagawaDepartment 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.
Hiroshi KurodaDepartment of Pediatrics, Kyoto City Hospital, Kyoto 604-8845, Japan.
Jill Clayton-SmithManchester 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.
Juan WangDepartment of Ultrasound, the Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710004, China.
Zheng WangLaboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan.
Siddharth BankaManchester 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.
Adam JacksonManchester 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.
Yan-Min ZhangShaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Affiliated Children's Hospital of Xi'an Jiaotong University, Xi'an 710082, China.
Zhen-Jie WeiLaboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan.
Irina HüningInstitute of Human Genetics, University of Lübeck, 23538 Lübeck, Germany.
Theresa BrunetInstitute 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.
Hirofumi OhashiDivision of Medical Genetics, Saitama Children's Hospital, Saitama 330-8777, Japan.
Molly F ThomasDivision of Gastroenterology, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Caleb BuppSpectrum Health, Grand Rapids, MI 49503, USA.
Noriko MiyakeDepartment of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo 162-8655, Japan.
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Roberto Mendoza-LondonoDivision 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.
Gregory CostainDepartment of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A4, Canada.
Gabriele HahnInstitute for Radiological Diagnostics, Universitätsklinikum Carl Gustav Carus Dresden, Technische Universität, 01307 Dresden, Germany.
Nataliya Di DonatoInstitute for Clinical Genetics, University Hospital, TU Dresden, 01069 Dresden, Germany.
Gökhan YigitInstitute of Human Genetics, University Medical Center Göttingen, 37075 Göttingen, Germany; DZHK (German Center for Cardiovascular Research), partner site Göttingen, 37075 Göttingen, Germany.
Takahiro YamadaDepartment of Medical Ethics and Medical Genetics, Kyoto University School of Public Health, Kyoto 606-8501, Japan.
Gen NishimuraLaboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan.
K Mark AnselDepartment of Microbiology and Immunology, University of California San Francisco, San Francisco, CA 94143, USA.
Bernd WollnikInstitute 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.
Martin Hrabě de AngelisInstitute 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.
André MégarbanéDepartment of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, 1102-2801, Lebanon and Institut Jerome Lejeune, 75015 Paris, France.
Jill A RosenfeldDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.
Vigo HeissmeyerResearch 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.
Shiro IkegawaLaboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan.
Philippe M CampeauDepartment 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.
RIKEN Center for Integrative Medical Sciences · JPCentre Hospitalier Universitaire Sainte-Justine · CAUniversity of Manchester · GBHelmholtz Zentrum München · DEUniversitätsmedizin Göttingen · DEUniversity of Toronto · CABaylor College of Medicine · USCenter for Environmental Health · USKyoto City Hospital · JPKyoto Prefectural University of Medicine · JPKyoto University · JPLebanese American University · LBMassachusetts General Hospital · USNational Center for Global Health and Medicine · JPNorthwest Women's and Children's Hospital · CNSaitama Children's Medical Center · JPSecond Affiliated Hospital of Xi'an Jiaotong University · CNSpectrum Health · USStellenbosch University · ZATechnical University of Munich · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

ExoribonucleasesHistonesHumansMutation, MissenseRNARNA, MessengerRNA, Ribosomal, 5.8SERI1 protein, humanExoribonucleasesHistonesRNARNA, MessengerRNA, Ribosomal, 5.8SERI1exoribonucleaseribosomopathyshort statureskeletal dysplasiaspondyloepimetaphyseal dysplasia

Identifiers

PMID37352860
PMCPMC10357479
OpenAlexW4381620542

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.