Ocular expression and distribution of products of the POAG-associated chromosome 9p21 gene region

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dc.contributor.authorChidlow, G.
dc.contributor.authorWood, J.
dc.contributor.authorSharma, S.
dc.contributor.authorDimasi, D.
dc.contributor.authorBurdon, K.
dc.contributor.authorCasson, R.
dc.contributor.authorCraig, J.
dc.contributor.editorMittal, B.
dc.date.issued2013
dc.description.abstractIt 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.
dc.description.statementofresponsibilityGlyn Chidlow, John P. M. Wood, Shiwani Sharma, David P. Dimasi, Kathryn P. Burdon, Robert J. Casson, Jamie E. Craig
dc.identifier.citationPLoS One, 2013; 8(9):1-18
dc.identifier.doi10.1371/journal.pone.0075067
dc.identifier.issn1932-6203
dc.identifier.issn1932-6203
dc.identifier.orcidChidlow, G. [0000-0001-7371-0239]
dc.identifier.orcidCasson, R. [0000-0003-2822-4076]
dc.identifier.urihttp://hdl.handle.net/2440/81369
dc.language.isoen
dc.publisherPublic Library of Science
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1031347
dc.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.
dc.source.urihttps://doi.org/10.1371/journal.pone.0075067
dc.subjectCell Line
dc.subjectChromosomes, Human, Pair 9
dc.subjectAnimals
dc.subjectHumans
dc.subjectMice
dc.subjectRats
dc.subjectGlaucoma, Open-Angle
dc.subjectMicrotubule-Associated Proteins
dc.subjectRNA, Messenger
dc.subjectOrgan Specificity
dc.subjectGene Expression
dc.subjectGene Order
dc.subjectMultigene Family
dc.subjectAged
dc.subjectMiddle Aged
dc.subjectCyclin-Dependent Kinase Inhibitor p16
dc.subjectCyclin-Dependent Kinase Inhibitor p15
dc.subjectGenetic Loci
dc.subjectGenetic Association Studies
dc.titleOcular expression and distribution of products of the POAG-associated chromosome 9p21 gene region
dc.typeJournal article
pubs.publication-statusPublished

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