Giunta Lab

Sapienza University of Rome

Centro (IT) (ITI) · Italy

ERC-funded
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ERC Starting Grant · 2022

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

The last decades have seen an extraordinary leap in our knowledge of the human genome and its role in health and disease. Yet, approximately 5% of our DNA still lacks sequence annotation and has been largely excluded from functional and disease-association studies. 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. A recent breakthrough has been the complete genome assembly, including centromeres, of a haploid cell line derived from fetoplacental growth of a molar pregnancy. However, centromeres…

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