Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/81369
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Type: Journal article
Title: Ocular expression and distribution of products of the POAG-associated chromosome 9p21 gene region
Author: Chidlow, G.
Wood, J.
Sharma, S.
Dimasi, D.
Burdon, K.
Casson, R.
Craig, J.
Citation: PLoS One, 2013; 8(9):1-18
Publisher: Public Library of Science
Issue Date: 2013
ISSN: 1932-6203
1932-6203
Statement of
Responsibility: 
Glyn Chidlow, John P. M. Wood, Shiwani Sharma, David P. Dimasi, Kathryn P. Burdon, Robert J. Casson, Jamie E. Craig
Abstract: It has recently been shown that there are highly significant associations for common single nucleotide polymorphisms (SNPs) near the CDKN2B-AS1 gene region at the 9p21 locus with primary open angle glaucoma (POAG), a leading cause of irreversible blindness. This gene region houses the CDKN2B/p15INK4B, CDKN2A/p16INK4A and p14ARF (rat equivalent, p19ARF) tumour suppressor genes and is adjacent to the S-methyl-5′-thioadenosine phosphorylase (MTAP) gene. In order to understand the ocular function of these genes and, therefore, how they may be involved in the pathogenesis of POAG, we studied the distribution patterns of each of their products within human and rat ocular tissues. MTAP mRNA was detected in the rat retina and optic nerve and its protein product was localised to the corneal epithelium, trabecular meshwork and retinal glial cells in both human and rat eyes. There was a very low level of p16INK4A mRNA present within the rat retina and slightly more in the optic nerve, although no protein product could be detected in either rat or human eyes with any of the antibodies tested. P19ARF mRNA was likewise only present at very low levels in rat retina and slightly higher levels in the optic nerve. However, no unambiguous evidence was found to indicate expression of specific P19ARF/p14ARF proteins in either rat or human eyes, respectively. In contrast, p15INK4B mRNA was detected in much higher amounts in both retina and optic nerve compared with the other genes under analysis. Moreover, p15INK4B protein was clearly localised to the retinal inner nuclear and ganglion cell layers and the corneal epithelium and trabecular meshwork in rat and human eyes. The presented data provide the basis for future studies that can explore the roles that these gene products may play in the pathogenesis of glaucoma and other models of optic nerve damage.
Keywords: Cell Line; Chromosomes, Human, Pair 9; Animals; Humans; Mice; Rats; Glaucoma, Open-Angle; Microtubule-Associated Proteins; RNA, Messenger; Organ Specificity; Gene Expression; Gene Order; Multigene Family; Aged; Middle Aged; Cyclin-Dependent Kinase Inhibitor p16; Cyclin-Dependent Kinase Inhibitor p15; Genetic Loci; Genetic Association Studies
Rights: © 2013 Chidlow et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
RMID: 0020131951
DOI: 10.1371/journal.pone.0075067
Grant ID: http://purl.org/au-research/grants/nhmrc/1031347
Appears in Collections:Opthalmology & Visual Sciences publications

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