title: Whole genome expression profiling of normal human fetal and adult ocular tissues.
abstract: To study growth and development of ocular tissues, gene expression patterns in normal human fetal versus adult eyes were compared. Human retina/retinal pigment epithelium, choroid, sclera, optic nerve* and cornea* tissues were dissected from fetal (24 week gestational age) (N = 9; *N = 6), and adult (N = 6) normal donor eyes. The Illumina(®) whole genome expression microarray platform was used to assess differential expression. Statistical significance for all comparisons was determined using the Benjamin and Hochberg False Discovery Rate (FDR, 5%). Significant gene expression fold changes > 1.5 were found in adult versus fetal retina/RPE (N = 1185), choroid (N = 6446), sclera (N = 1349), and cornea (N = 3872), but not optic nerve. Genes showing differential expression were assessed using Ingenuity Pathway Analysis (IPA) for enriched functions and canonical pathways. In all tissues, development, cell death/growth, cancer functions, and signaling canonical pathways were enriched. There was also a general trend of down-regulation of collagen genes in adult tissues.
authors.affiliation: Center for Human Genetics, Duke University, Durham, NC 27710, USA. Electronic address: terri.young@duke.edu.
authors.forename: Terri L
authors.initials: TL
authors.lastname: Young
authors.forename: Felicia
authors.initials: F
authors.lastname: Hawthorne
authors.forename: Sheng
authors.initials: S
authors.lastname: Feng
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Luo
authors.forename: Elizabeth
authors.initials: E
authors.lastname: St Germain
authors.forename: Minyue
authors.initials: M
authors.lastname: Wang
authors.forename: Ravikanth
authors.initials: R
authors.lastname: Metlapally
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002829:Choroid / Q000196:embryology / Q000378:metabolism; D005123:Eye / Q000196:embryology* / Q000378:metabolism*; D005260:Female; D015870:Gene Expression; D016678:Genome; D006801:Humans; D008297:Male; D008875:Middle Aged; D009799:Ocular Physiological Phenomena / Q000235:genetics*; D012313:RNA / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D012160:Retina / Q000196:embryology / Q000378:metabolism; D012590:Sclera / Q000196:embryology / Q000378:metabolism
chemical_list: D012313:RNA
keywords: choroid; cornea; gene expression; microarray; optic nerve; retina; retinal pigment epithelium; sclera
references.citation: Invest Ophthalmol Vis Sci. 2006 May;47(5):1794-802
references.pmid: 16638983
references.citation: Neuron. 2004 Aug 19;43(4):447-68
references.pmid: 15312645
references.citation: J Neurosci Methods. 2007 Mar 30;161(1):96-100
references.pmid: 17126909
references.citation: Biostatistics. 2003 Apr;4(2):249-64
references.pmid: 12925520
references.citation: Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1297-303
references.pmid: 19875658
references.citation: Biometrics. 1947 Sep;3(3):119-22
references.pmid: 18903631
references.citation: Br J Ophthalmol. 1996 Oct;80(10):918-21
references.pmid: 8976706
references.citation: J Neuropathol Exp Neurol. 2007 Dec;66(12):1093-9
references.pmid: 18090918
references.citation: Ann Rheum Dis. 2007 Nov;66(11):1531-3
references.pmid: 17660222
references.citation: J Neuropathol Exp Neurol. 2010 Jan;69(1):70-81
references.pmid: 20010301
references.citation: Vision Res. 1995 May;35(9):1175-94
references.pmid: 7610579
references.citation: Croat Med J. 2009 Feb;50(1):17-22
references.pmid: 19260140
references.citation: Mol Vis. 2011 Apr 22;17:1003-10
references.pmid: 21541277
references.citation: Tissue Antigens. 2007 Nov;70(5):432-4
references.pmid: 17868256
references.citation: Curr Opin Ophthalmol. 2011 Apr;22 Suppl:S1-8
references.pmid: 21478704
references.citation: Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3380-6
references.pmid: 15452039
references.citation: Invest Ophthalmol Vis Sci. 2012 Jul 03;53(8):4468-74
references.pmid: 22661486
references.citation: Nat Genet. 2013 Mar;45(3):314-8
references.pmid: 23396134
references.citation: Ophthalmic Genet. 2008 Mar;29(1):1-9
references.pmid: 18363166
references.citation: Ophthalmology. 2007 Jan;114(1):121-6
references.pmid: 17070594
references.citation: Arch Ophthalmol. 1985 Jun;103(6):785-9
references.pmid: 4004614
references.citation: Invest Ophthalmol Vis Sci. 2013 Mar 21;54(3):2076-86
references.pmid: 23422819
references.citation: Mol Vis. 2007 Apr 04;13:534-44
references.pmid: 17438518