Structural variation and its effect on expression.

Détails

ID Serval
serval:BIB_D6EAA1BF22E4
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Structural variation and its effect on expression.
Périodique
Methods in Molecular Biology
Auteur⸱e⸱s
Harewood L., Chaignat E., Reymond A.
ISSN
1940-6029 (Electronic)
ISSN-L
1064-3745
Statut éditorial
Publié
Date de publication
2012
Volume
838
Pages
173-186
Langue
anglais
Résumé
Structural variation, whether it is caused by copy number variants or present in a balanced form, such as reciprocal translocations and inversions, can have a profound and dramatic effect on the expression of genes mapping within and close to the rearrangement, as well as affecting others genome wide. These effects can be caused by altering the copy number of one or more genes or regulatory elements (dosage effect) or from physical disruption of links between regulatory elements and their associated gene or genes, resulting in perturbation of expression. Similarly, large-scale structural variants can result in genome-wide expression changes by altering the positions that chromosomes occupy within the nucleus, potentially disrupting not only local cis interactions, but also trans interactions that occur throughout the genome. Structural variation is, therefore, a significant factor in the study of gene expression and is discussed here in more detail.
Mots-clé
Chromosome Mapping, DNA Copy Number Variations, Gene Deletion, Gene Dosage, Gene Duplication, Gene Expression, Gene Rearrangement, Genetic Variation, Genome, Human, Humans, Phenotype, Quantitative Trait Loci, Regulatory Sequences, Nucleic Acid, Translocation, Genetic
Pubmed
Web of science
Création de la notice
25/01/2012 9:29
Dernière modification de la notice
20/08/2019 15:56
Données d'usage