Order and disorder: abnormal 3D chromatin organization in human disease.
Brief Funct Genomics
; 19(2): 128-138, 2020 03 23.
Article
em En
| MEDLINE
| ID: mdl-32025693
ABSTRACT
A precise three-dimensional (3D) organization of chromatin is central to achieve the intricate transcriptional patterns that are required to form complex organisms. Growing evidence supports an important role of 3D chromatin architecture in development and delineates its alterations as prominent causes of disease. In this review, we discuss emerging concepts on the fundamental forces shaping genomes in space and on how their disruption can lead to pathogenic phenotypes. We describe the molecular mechanisms underlying a wide range of diseases, from the systemic effects of coding mutations on 3D architectural factors, to the more tissue-specific phenotypes resulting from genetic and epigenetic modifications at specific loci. Understanding the connection between the 3D organization of the genome and its underlying biological function will allow a better interpretation of human pathogenesis.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Cromatina
/
Epigênese Genética
Limite:
Humans
Idioma:
En
Revista:
Brief Funct Genomics
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Alemanha