7q11.23 deletion and duplication.

Chromosomes, Human, Pair 7 Cognition DNA Copy Number Variations Epigenome Gene Deletion Gene Duplication Genetic Association Studies Genomics / methods Humans Neurodevelopmental Disorders / genetics Social Behavior Transcriptome Williams Syndrome / genetics

Journal

Current opinion in genetics & development
ISSN: 1879-0380
Titre abrégé: Curr Opin Genet Dev
Pays: England
ID NLM: 9111375

Informations de publication

Date de publication:
06 2021
Historique:
received: 17 12 2020
revised: 14 01 2021
accepted: 29 01 2021
pubmed: 21 2 2021
medline: 30 12 2021
entrez: 20 2 2021
Statut: ppublish

Résumé

Copy number variation (CNV) at 7q11.23 causes distinct disorders with both contrasting and overlapping phenotypic features of some but not all of the genes encompassed by the CNV. The spectrum of cognitive disabilities, psychopathology and altered behaviours associated with 7q11.23 CNV provides a tantalizing window of opportunity to better understand the molecular bases for complex human cognitive function and social behaviour. Study of individuals with atypical CNVs has narrowed the field of candidate genes, and the generation of mouse models has allowed further insight into their functions. Recent research has used high-throughput genomics techniques to interrogate the transcriptome and methylome, and initial strategies to correct gene transcription levels, pathophysiology and cognitive and behavioural phenotypes show promise.

Identifiants

DOI: 10.1016/j.gde.2021.01.013 PMID: 33610060
pubmed: 33610060
pii: S0959-437X(21)00022-8
doi: 10.1016/j.gde.2021.01.013
pii:
doi:

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

41-48

Subventions

Organisme : CIHR
ID : MOP77720
Pays : Canada

Informations de copyright

Copyright © 2021 Elsevier Ltd. All rights reserved.

Auteurs

Lucy R Osborne (LR)

Departments of Medicine and Molecular Genetics, University of Toronto, 661 University Avenue, Suite 1500, MaRS Centre, West Tower, Toronto, ON M5G 1M1 Canada; Department of Psychological and Brain Sciences, 317 Life Sciences Building, University of Louisville, Louisville, KY 40292, United States. Electronic address: lucy.osborne@utoronto.ca.

Carolyn B Mervis (CB)

Departments of Medicine and Molecular Genetics, University of Toronto, 661 University Avenue, Suite 1500, MaRS Centre, West Tower, Toronto, ON M5G 1M1 Canada; Department of Psychological and Brain Sciences, 317 Life Sciences Building, University of Louisville, Louisville, KY 40292, United States.

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Chromosomes › Chromosomes de mammifère › Chromosomes humains › Chromosomes humains 6-12 et X › Chromosomes humains de la paire 7 › 7q11.23 deletion and duplication.
questionsmedicales.fr › Phénomènes psychologiques › Processus mentaux › Cognition › 7q11.23 deletion and duplication.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Variation structurale du génome › Variations de nombre de copies de segment d'ADN › 7q11.23 deletion and duplication.
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Épigénome › 7q11.23 deletion and duplication.
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Délétion de séquence › Délétion de gène › 7q11.23 deletion and duplication.
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Duplication de gène › 7q11.23 deletion and duplication.
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › 7q11.23 deletion and duplication.
questionsmedicales.fr › Disciplines des sciences naturelles › Disciplines des sciences biologiques › Biologie › Génétique › Génomique › 7q11.23 deletion and duplication.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › 7q11.23 deletion and duplication.
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › 7q11.23 deletion and duplication.
questionsmedicales.fr › Comportement et mécanismes comportementaux › Comportement › Comportement social › 7q11.23 deletion and duplication.
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Transcriptome › 7q11.23 deletion and duplication.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies chromosomiques › Syndrome de Williams › 7q11.23 deletion and duplication.