Sequence-structure-function: uncovering how genetic variation at human centromere drives cellular phenotypes

Title Sequence-structure-function: uncovering how genetic variation at human centromere drives cellular phenotypes
Acronym CentroFun
Website https://sites.google.com/uniroma1.it/giuntalab
Start date 2024-01-01
End date 2028-12-31
Sponsor European Research Council - Starting Grant (ERC-StG)
Institution Sapienza University of Rome

Associated cell lines

Project Description

The last decades have seen an extraordinary leap in our knowledge of the human genome and its role in health and disease. Yet, polymorphic and repetitive regions of our DNA remain hard to assemble into a linear sequence. These genomic gaps include DNA repeats such as centromeres, which are large tandem arrays of alpha-satellite DNA. Centromere’s chromatin is functionally essential for chromosome segregation serving as the basal template for the mitotic kinetochore. We will use the human embryonic stem cell line H9 to further our understanding of centromere DNA in this cellular model.