PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.

DNA Primase / chemistry Dwarfism / diagnostic imaging Female Fetal Growth Retardation / diagnostic imaging Genetic Variation Humans Infant Male Pedigree Syndrome
DNA replication genome stability growth disorders human genetics rare disease

Journal

Genes & development
ISSN: 1549-5477
Titre abrégé: Genes Dev
Pays: United States
ID NLM: 8711660

Informations de publication

Date de publication:
01 11 2020
Historique:
received: 09 05 2020
accepted: 18 09 2020
pubmed: 17 10 2020
medline: 11 6 2021
entrez: 16 10 2020
Statut: ppublish

Résumé

DNA replication is fundamental for cell proliferation in all organisms. Nonetheless, components of the replisome have been implicated in human disease, and here we report

Identifiants

DOI: 10.1101/gad.340190.120 PMID: 33060134 PMC: PMC7608753
pubmed: 33060134
pii: gad.340190.120
doi: 10.1101/gad.340190.120
pmc: PMC7608753
doi:

Substances chimiques

DNA Primase EC 2.7.7.-
PRIM1 protein, human EC 2.7.7.-

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1520-1533

Subventions

Organisme : Medical Research Council
ID : MC_UU_00007/16
Pays : United Kingdom
Organisme : Medical Research Council
ID : U127580972
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_PC_15080
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UU_00007/5
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/M02122X/1
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Chief Scientist Office
Pays : United Kingdom

Investigateurs

Timothy J Aitman (TJ)
Andrew V Biankin (AV)
Susanna L Cooke (SL)
Wendy Inglis Humphrey (WI)
Sancha Martin (S)
Lynne Mennie (L)
Alison Meynert (A)
Zosia Miedzybrodzka (Z)
Fiona Murphy (F)
Craig Nourse (C)
Javier Santoyo-Lopez (J)
Colin A Semple (CA)
Nicola Williams (N)

Informations de copyright

© 2020 Parry et al.; Published by Cold Spring Harbor Laboratory Press.

Auteurs

David A Parry (DA)

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
ORCID: 0000-0003-0376-7736

Lukas Tamayo-Orrego (L)

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
ORCID: 0000-0001-7041-4848

Paula Carroll (P)

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.

Joseph A Marsh (JA)

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.

Philip Greene (P)

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.

Olga Murina (O)

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.

Carolina Uggenti (C)

Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.

Andrea Leitch (A)

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.

Rita Káposzta (R)

Institute of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen H-4032, Hungary.

Gabriella Merő (G)

Institute of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen H-4032, Hungary.

Andrea Nagy (A)

Institute of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen H-4032, Hungary.

Brigitta Orlik (B)

Institute of Pathology, Faculty of Medicine, University of Debrecen, Debrecen H-4032, Hungary.

Balázs Kovács-Pászthy (B)

Institute of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen H-4032, Hungary.

Alan J Quigley (AJ)

Department of Radiology, Royal Hospital for Sick Children, Edinburgh EH9 1LF, United Kingdom.

Magdolna Riszter (M)

Institute of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen H-4032, Hungary.

Julia Rankin (J)

Department Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter EX1 2ED, United Kingdom.

Martin A M Reijns (MAM)

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
ORCID: 0000-0002-5048-2752

Katalin Szakszon (K)

Institute of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen H-4032, Hungary.

Andrew P Jackson (AP)

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
ORCID: 0000-0002-8739-2646

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Classifications MeSH

questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › Phosphotransferases › Nucleotidyltransferases › RNA nucleotidyltransferases › DNA-directed RNA polymerases › DNA primase › PRIM1 deficiency causes a distinctive...
questionsmedicales.fr › Maladies endocriniennes › Nanisme › PRIM1 deficiency causes a distinctive...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Troubles de la croissance › Retard de croissance intra-utérin › PRIM1 deficiency causes a distinctive...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › PRIM1 deficiency causes a distinctive...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › PRIM1 deficiency causes a distinctive...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › PRIM1 deficiency causes a distinctive...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › PRIM1 deficiency causes a distinctive...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Maladie › Syndrome › PRIM1 deficiency causes a distinctive...