The Genome in a Three-Dimensional Context : Deciphering the Contribution of Noncoding Mutations at Enhancers to Blood Cancer
Rovirosa Mulet, Llorenç (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Ramos-Morales, Alberto (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Javierre, B. M. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Universitat Autònoma de Barcelona

Date:	2020
Abstract:	Associations between blood cancer and genetic predisposition, including both inherited variants and acquired mutations and epimutations, have been well characterized. However, the majority of these variants affect noncoding regions, making their mechanisms difficult to hypothesize and hindering the translation of these insights into patient benefits. Fueled by unprecedented progress in next-generation sequencing and computational integrative analysis, studies have started applying combinations of epigenetic, genome architecture, and functional assays to bridge the gap between noncoding variants and blood cancer. These complementary tools have not only allowed us to understand the potential malignant role of these variants but also to differentiate key variants, cell-types, and conditions from misleading ones. Here, we briefly review recent studies that have provided fundamental insights into our understanding of how noncoding mutations at enhancers predispose and promote blood malignancies in the context of spatial genome architecture.
Grants:	Ministerio de Ciencia e Innovación RTI2018-094788-A-I00 Agència de Gestió d'Ajuts Universitaris i de Recerca 2019FI-B00017
Note:	Altres ajuts: AR-M is funded by the José Carreras Leukämie-Stiftung (08R/2019). BJ is funded by La Caixa Banking Foundation Junior Leader project (LCF/BQ/PI19/11690001), by the José Carreras Leukämie-Stiftung (08R/2019), and by the European Hematology Association Advance Research Grant.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article de revisió ; Article ; Versió publicada
Subject:	3D chromatin organization ; Blood cancer ; Enhancers ; Hematopoietic malignancies ; Noncoding mutations and epimutations ; Spatial genome architecture
Published in:	Frontiers in immunology, Vol. 11 (july 2020) , p. 592087, ISSN 1664-3224

DOI: 10.3389/fimmu.2020.592087
PMID: 33117405

9 p, 742.8 KB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP) > Josep Carreras Leukaemia Research Institute
Articles > Published articles