EZH2 specifically regulates ISL1 during embryonic urinary tract formation.

LIM-Homeodomain Proteins / genetics Animals Transcription Factors / genetics Humans Zebrafish / embryology Enhancer of Zeste Homolog 2 Protein / metabolism Gene Expression Regulation, Developmental Mice Bladder Exstrophy / genetics Urinary Tract / metabolism Promoter Regions, Genetic Genome-Wide Association Study
Classic bladder exstrophy EZH2 Gene regulation HEK293 ISL1 Promoter Zebrafish

Journal

Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288

Informations de publication

Date de publication:
02 Oct 2024
Historique:
received: 24 06 2024
accepted: 25 09 2024
medline: 3 10 2024
pubmed: 3 10 2024
entrez: 2 10 2024
Statut: epublish

Résumé

Isl1 has been described as an embryonic master control gene expressed in the pericloacal mesenchyme. Deletion of Isl1 from the genital mesenchyme in mice leads to an ectopic urethral opening and epispadias-like phenotype. Using genome wide association methods, we identified ISL1 as the key susceptibility gene for classic bladder exstrophy (CBE), comprising epispadias and exstrophy of the urinary bladder. The most significant marker (rs6874700) identified in our recent GWAS meta-analysis achieved a p value of 1.48 × 10

Identifiants

DOI: 10.1038/s41598-024-74303-w PMID: 39358471
pubmed: 39358471
doi: 10.1038/s41598-024-74303-w
pii: 10.1038/s41598-024-74303-w
doi:

Substances chimiques

LIM-Homeodomain Proteins 0
insulin gene enhancer binding protein Isl-1 0
Transcription Factors 0
Enhancer of Zeste Homolog 2 Protein EC 2.1.1.43
EZH2 protein, human EC 2.1.1.43

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

22909

Subventions

Organisme : Deutsche Forschungsgemeinschaft
ID : RE 1723/1-3
Organisme : Deutsche Forschungsgemeinschaft
ID : RE 1723/1-3
Organisme : Deutsche Forschungsgemeinschaft
ID : OD 102/1-3
Organisme : Else Kröner-Fresenius Foundation Graduate School
ID : Q614.0754
Organisme : BONFOR
ID : O-167.0023
Organisme : BONFOR
ID : O-120.0001

Informations de copyright

© 2024. The Author(s).

Références

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Auteurs

Enrico Mingardo (E)

Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53115, Bonn, Germany.
Institute of Human Genetics, Medical Faculty, University of Bonn, 53127, Bonn, Germany.

Jeshurun C Kalanithy (JC)

Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53115, Bonn, Germany.
Institute of Human Genetics, Medical Faculty, University of Bonn, 53127, Bonn, Germany.

Gabriel Dworschak (G)

Institute of Human Genetics, Medical Faculty, University of Bonn, 53127, Bonn, Germany.
Institute of Neuroanatomy, Medical Faculty, University of Bonn, 53115, Bonn, Germany.
Department of Neuropediatrics, University Hospital Bonn, 53127, Bonn, Germany.

Nina Ishorst (N)

Institute of Human Genetics, Medical Faculty, University of Bonn, 53127, Bonn, Germany.
Institute of Neuroanatomy, Medical Faculty, University of Bonn, 53115, Bonn, Germany.

Öznur Yilmaz (Ö)

Institute of Neuroanatomy, Medical Faculty, University of Bonn, 53115, Bonn, Germany.

Tobias Lindenberg (T)

Institute of Neuroanatomy, Medical Faculty, University of Bonn, 53115, Bonn, Germany.

Ronja Hollstein (R)

Institute of Human Genetics, Medical Faculty, University of Bonn, 53127, Bonn, Germany.

Tim Felger (T)

Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.

Pierre-Olivier Angrand (PO)

Univ. Lille, CNRS, Inserm, CHU Lille, UMR9020-U1277 - CANTHER - Cancer Heterogeneity Plasticity and Resistance to Therapies, Lille, F-59000, France.

Heiko Reutter (H)

Institute of Human Genetics, Medical Faculty, University of Bonn, 53127, Bonn, Germany.
Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.
Division Neonatology and Pediatric Intensive Care, Department of Pediatric and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.

Benjamin Odermatt (B)

Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53115, Bonn, Germany. b.odermatt@uni-bonn.de.
Institute of Neuroanatomy, Medical Faculty, University of Bonn, 53115, Bonn, Germany. b.odermatt@uni-bonn.de.

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines à domaine LIM › Protéines à homéodomaine LIM › EZH2 specifically regulates ISL1 during...
questionsmedicales.fr › Eucaryotes › Animaux › EZH2 specifically regulates ISL1 during...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › EZH2 specifically regulates ISL1 during...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › EZH2 specifically regulates ISL1 during...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Poissons › Cypriniformes › Cyprinidae › Danio zébré › EZH2 specifically regulates ISL1 during...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéines de répression › Protéines du groupe Polycomb › Complexe répresseur Polycomb-2 › Protéine-2 homologue de l'activateur de Zeste › EZH2 specifically regulates ISL1 during...
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Régulation de l'expression des gènes au cours du développement › EZH2 specifically regulates ISL1 during...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › EZH2 specifically regulates ISL1 during...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations urogénitales › Exstrophie vésicale › EZH2 specifically regulates ISL1 during...
questionsmedicales.fr › Appareil urogénital › Voies urinaires › EZH2 specifically regulates ISL1 during...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Éléments de régulation transcriptionnelle › Régions promotrices (génétique) › EZH2 specifically regulates ISL1 during...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › EZH2 specifically regulates ISL1 during...