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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
The shared genomic architecture of human nucleolar organizer regions
Genome Research, Volume 23, No. 12, Year 2013
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Description
The short arms of the five acrocentric human chromosomes harbor sequences that direct the assembly and function of the nucleolus, one of the key functional domains of the nucleus, yet they are absent from the current human genome assembly. Here we describe the genomic architecture of these human nucleolar organizers. Sequences distal and proximal to ribosomal gene arrays are conserved among the acrocentric chromosomes, suggesting they are sites of frequent recombination. Although previously believed to be heterochromatic, characterization of these two flanking regions reveals that they share a complex genomic architecture similar to other euchromatic regions of the genome, but they have distinct genomic characteristics. Proximal sequences are almost entirely segmentally duplicated, similar to the regions bordering centromeres. In contrast, the distal sequence is predominantly unique to the acrocentric short arms and is dominated by a very large inverted repeat. We show that the distal element is localized to the periphery of the nucleolus, where it appears to anchor the ribosomal gene repeats. This, combined with its complex chromatin structure and transcriptional activity, suggests that this region is involved in nucleolar organization. Our results provide a platform for investigating the role of NORs in nucleolar formation and function, and open the door for determining the role of these regions in the well-known empirical association of nucleoli with pathology. © 2013 Floutsakou et al.
Authors & Co-Authors
Agrawal, Saumya
Ireland, Galway
University of Galway
Nguyen, Thong T.
Ireland, Galway
University of Galway
Seoighe, Cathal
Ireland, Galway
University of Galway
Ganley, Austen R.D.
New Zealand, Auckland
Massey University Auckland
Statistics
Citations: 86
Authors: 4
Affiliations: 2
Identifiers
Doi:
10.1101/gr.157941.113
ISSN:
15495469
Research Areas
Genetics And Genomics