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Comprehensive analysis of gene expression in human retina and supporting tissues

Understanding the influence of gene expression on the molecular mechanisms underpinning human phenotypic diversity is fundamental to being able to predict health outcomes and treat disease. We have carried out whole transcriptome expression analysis on a series of eight normal human postmortem eyes...

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Autores principales: Li, Mingyao, Jia, Cheng, Kazmierkiewicz, Krista L., Bowman, Anita S., Tian, Lifeng, Liu, Yichuan, Gupta, Neel A., Gudiseva, Harini V., Yee, Stephanie S., Kim, Mijin, Dentchev, Tzvete, Kimble, James A., Parker, John S., Messinger, Jeffrey D., Hakonarson, Hakon, Curcio, Christine A., Stambolian, Dwight
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7297232/
https://www.ncbi.nlm.nih.gov/pubmed/24634144
http://dx.doi.org/10.1093/hmg/ddu114
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author Li, Mingyao
Jia, Cheng
Kazmierkiewicz, Krista L.
Bowman, Anita S.
Tian, Lifeng
Liu, Yichuan
Gupta, Neel A.
Gudiseva, Harini V.
Yee, Stephanie S.
Kim, Mijin
Dentchev, Tzvete
Kimble, James A.
Parker, John S.
Messinger, Jeffrey D.
Hakonarson, Hakon
Curcio, Christine A.
Stambolian, Dwight
author_facet Li, Mingyao
Jia, Cheng
Kazmierkiewicz, Krista L.
Bowman, Anita S.
Tian, Lifeng
Liu, Yichuan
Gupta, Neel A.
Gudiseva, Harini V.
Yee, Stephanie S.
Kim, Mijin
Dentchev, Tzvete
Kimble, James A.
Parker, John S.
Messinger, Jeffrey D.
Hakonarson, Hakon
Curcio, Christine A.
Stambolian, Dwight
author_sort Li, Mingyao
collection PubMed
description Understanding the influence of gene expression on the molecular mechanisms underpinning human phenotypic diversity is fundamental to being able to predict health outcomes and treat disease. We have carried out whole transcriptome expression analysis on a series of eight normal human postmortem eyes by RNA sequencing. Here we present data showing that ∼80% of the transcriptome is expressed in the posterior layers of the eye and that there is significant differential expression not only between the layers of the posterior part of the eye but also between locations of a tissue layer. These differences in expression also extend to alternative splicing and splicing factors. Differentially expressed genes are enriched for genes associated with psychiatric, immune and cardiovascular disorders. Enrichment categories for gene ontology included ion transport, synaptic transmission and visual and sensory perception. Lastly, allele-specific expression was found to be significant forCFH,C3 andCFB, which are known risk genes for age-related macular degeneration. These expression differences should be useful in determining the underlying biology of associations with common diseases of the human retina, retinal pigment epithelium and choroid and in guiding the analysis of the genomic regions involved in the control of normal gene expression.
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spelling pubmed-72972322020-06-22 Comprehensive analysis of gene expression in human retina and supporting tissues Li, Mingyao Jia, Cheng Kazmierkiewicz, Krista L. Bowman, Anita S. Tian, Lifeng Liu, Yichuan Gupta, Neel A. Gudiseva, Harini V. Yee, Stephanie S. Kim, Mijin Dentchev, Tzvete Kimble, James A. Parker, John S. Messinger, Jeffrey D. Hakonarson, Hakon Curcio, Christine A. Stambolian, Dwight Hum Mol Genet Articles Understanding the influence of gene expression on the molecular mechanisms underpinning human phenotypic diversity is fundamental to being able to predict health outcomes and treat disease. We have carried out whole transcriptome expression analysis on a series of eight normal human postmortem eyes by RNA sequencing. Here we present data showing that ∼80% of the transcriptome is expressed in the posterior layers of the eye and that there is significant differential expression not only between the layers of the posterior part of the eye but also between locations of a tissue layer. These differences in expression also extend to alternative splicing and splicing factors. Differentially expressed genes are enriched for genes associated with psychiatric, immune and cardiovascular disorders. Enrichment categories for gene ontology included ion transport, synaptic transmission and visual and sensory perception. Lastly, allele-specific expression was found to be significant forCFH,C3 andCFB, which are known risk genes for age-related macular degeneration. These expression differences should be useful in determining the underlying biology of associations with common diseases of the human retina, retinal pigment epithelium and choroid and in guiding the analysis of the genomic regions involved in the control of normal gene expression. Oxford University Press 2014-08-01 2014-03-14 /pmc/articles/PMC7297232/ /pubmed/24634144 http://dx.doi.org/10.1093/hmg/ddu114 Text en © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial reuse, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Articles
Li, Mingyao
Jia, Cheng
Kazmierkiewicz, Krista L.
Bowman, Anita S.
Tian, Lifeng
Liu, Yichuan
Gupta, Neel A.
Gudiseva, Harini V.
Yee, Stephanie S.
Kim, Mijin
Dentchev, Tzvete
Kimble, James A.
Parker, John S.
Messinger, Jeffrey D.
Hakonarson, Hakon
Curcio, Christine A.
Stambolian, Dwight
Comprehensive analysis of gene expression in human retina and supporting tissues
title Comprehensive analysis of gene expression in human retina and supporting tissues
title_full Comprehensive analysis of gene expression in human retina and supporting tissues
title_fullStr Comprehensive analysis of gene expression in human retina and supporting tissues
title_full_unstemmed Comprehensive analysis of gene expression in human retina and supporting tissues
title_short Comprehensive analysis of gene expression in human retina and supporting tissues
title_sort comprehensive analysis of gene expression in human retina and supporting tissues
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7297232/
https://www.ncbi.nlm.nih.gov/pubmed/24634144
http://dx.doi.org/10.1093/hmg/ddu114
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