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|
|Sponsor||European Research Council - Starting Grant (ERC-StG)|
|Institution||Sapienza University of Rome|
Associated cell lines
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.