Organizer: IRB Barcelona
Date: Friday 21 May 2021, 12.00h
Title: "Order and disorder: abnormal 3D chromatin organization in developmental disease"
Host: Ferran Azorín, Professor (IBMB-CSIC) - Chromatin Structure and Function LAB - IRB Barcelona
The three-dimensional (3D) folding of chromatin is critical to accommodate the roughly two meters of DNA contained in an eukaryotic cell, within its nucleus. This non-random process contrains the interactions between enhancers and promoters, resulting in complex and pleiotropic gene expression patterns that are essential for proper development.
In vertebrates, a fundamental unit of 3D chromatin organization are topologically associating domains (TADs), which constitute large genomic landscapes occupied by regulatory elements and their putative genes. TADs are demarcated by boundary regions that can limit the regulatory crosstalk between adjacent domains. Boundary regions represent an important regulatory hallmark along the genome, as their disruption has been wide range of diseases including congenital malformation or cancer.
In this talk, I will explore the molecular mechanisms by which alterations in 3D chromatin organization can induce human disease. Furthermore, I will discuss the regulatory logic of TAD boundaries, highlighting how these elements can act as effective quantitative modulators of gene expression and phenotypes. The concepts presented here will serve as a framework to interpret the impact of large-scale genomic mutations on developmental processes.