Preprint

Review

The Genome in a Three-Dimensional Context: Deciphering the Contribution of Noncoding Mutations at Enhancers to Blood Cancer

Altmetrics

Downloads

287

Views

298

Comments

Llorenç Rovirosa-Mulet,Alberto Ramos-Morales^*,

Biola M. Javierre^*

Llorenç Rovirosa-Mulet,Alberto Ramos-Morales^*,

Biola M. Javierre^*

This version is not peer-reviewed

Submitted:

30 July 2020

Posted:

02 August 2020

You are already at the latest version

Alerts

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.

Keywords:

Subject: Biology and Life Sciences - Biochemistry and Molecular Biology

Copyright: This open access article is published under a Creative Commons CC BY 4.0 license, which permit the free download, distribution, and reuse, provided that the author and preprint are cited in any reuse.