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The role of 3D genome organization in disease: From compartments to single nucleotides.
Chakraborty, Abhijit; Ay, Ferhat.
Afiliação
  • Chakraborty A; La Jolla Institute for Allergy and Immunology, La Jolla, CA, 92037, USA.
  • Ay F; La Jolla Institute for Allergy and Immunology, La Jolla, CA, 92037, USA; UC San Diego, School of Medicine, La Jolla, 92093, CA, USA. Electronic address: ferhatay@lji.org.
Semin Cell Dev Biol ; 90: 104-113, 2019 06.
Article em En | MEDLINE | ID: mdl-30017907
Since the advent of the chromosome conformation capture technology, our understanding of the human genome 3D organization has grown rapidly and we now know that human interphase chromosomes are folded into multiple layers of hierarchical structures and each layer can play a critical role in transcriptional regulation. Alterations in any one of these finely-tuned layers can lead to unwanted cascade of molecular events and ultimately drive the manifestation of diseases and phenotypes. Here we discuss, starting from chromosome level organization going down to single nucleotide changes, recent studies linking diseases or phenotypes to changes in the 3D genome architecture.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença / Cromossomos / Nucleotídeos Limite: Humans Idioma: En Revista: Semin Cell Dev Biol Assunto da revista: EMBRIOLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença / Cromossomos / Nucleotídeos Limite: Humans Idioma: En Revista: Semin Cell Dev Biol Assunto da revista: EMBRIOLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos