The genomic architecture of human nucleolar organizer regions and its role in nucleolar biology

WT Scheme: Investigator Award in Science.

The nucleolus is the largest functional domain in the nucleus of all human cells. Its primary role is the biogenesis of ribosomes, the complex machines that translate the language of nucleic acids (DNA and RNA) in to proteins. Nucleoli form around arrays of genes that encode the major RNA component of ribosomes. These ribosomal gene arrays, known as nucleolar organizer regions (NORs), are located on the short-arms of five human chromosomes. Contrary to popular belief the human genome sequence is incomplete and missing regions include the NOR bearing short arms of human chromosomes 13, 14, 15, 21 and 22. We aim to describe the genomic architecture surrounding human NORs. This will involve de novo DNA sequence determination and identification of features that regulate the function and genomic stability of NORs. This research program will provide a description of how the chromosomal context of NORs influences nucleolar biology. It will also contribute to completion of the human genome and to a description of how it is organized in three dimensions within the human nucleus and how this changes through various biological processes. Finally, our work will also provide new tools for nucleolar research and exploring its role in human disease.

Award Date
01 April 2015
Award Value
Principal Investigator
Professor Brian McStay
Host Institution
National University of Ireland, Galway
SFI-HRB-Wellcome Research Partnership