Differential gene expression in anatomical compartments of the human eye

Diehn, J.J.; Diehn, Maximilian; Marmor, MF; Brown, Patrick O.

doi:10.1016/j.ajo.2006.08.015

Cited by 25 publications

(33 citation statements)

References 12 publications

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“…And lastly, genes that have been studied in tumor metastasis models were also found to be differentially expressed in the cornea (36). Interestingly, during both wound healing and cancer development, related cells exhibit rapid proliferation and tissue remodeling (36). Taken together, our pathway analysis results from IPA and KEGG yielded comparable pathways with regard to the cornea in that the programs identified pathways relevant to cellular proliferation, migration, and apoptosis, suggesting such pathways may have a role in the integrity and homeostasis of the human cornea.…”

Section: Pathway Analysismentioning

confidence: 99%

“…Tight junctions are composed of proteins that mediate cell adhesion and serve as diffusion barriers with the tight junction-related proteins occludin, claudin, and ZO-1 expressed in human corneal epithelium (35). And lastly, genes that have been studied in tumor metastasis models were also found to be differentially expressed in the cornea (36). Interestingly, during both wound healing and cancer development, related cells exhibit rapid proliferation and tissue remodeling (36).…”

Section: Pathway Analysismentioning

confidence: 99%

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Genome-wide association study identifiesWNT7Bas a novel locus for central corneal thickness in Latinos

Gao¹,

Nannini²,

Corrao³

et al. 2016

Hum. Mol. Genet.

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The cornea is the outermost layer of the eye and is a vital component of focusing incoming light on the retina. Central corneal thickness (CCT) is now recognized to have a significant role in ocular health and is a risk factor for various ocular diseases, such as keratoconus and primary open angle glaucoma. Most previous genetic studies utilized European and Asian subjects to identify genetic loci associated with CCT. Minority populations, such as Latinos, may aid in identifying additional loci and improve our understanding of the genetic architecture of CCT. In this study, we conducted a genome-wide association study (GWAS) in Latinos, a traditionally understudied population in genetic research, to further identify loci contributing to CCT. Study participants were genotyped using either the Illumina OmniExpress BeadChip (~730K markers) or the Illumina Hispanic/SOL BeadChip (~2.5 million markers). All study participants were 40 years of age and older. We assessed the association between individual single nucleotide polymorphisms (SNPs) and CCT using linear regression, adjusting for age, gender, and principal components of genetic ancestry. To expand genomic coverage and to interrogate additional SNPs, we imputed SNPs from the 1000 Genomes Project reference panels. We identified a novel SNP, rs10453441 (P = 6.01E-09), in an intron of WNT7B that is associated with CCT. Furthermore, WNT7B is expressed in the human cornea. We also replicated 11 previously reported loci, including IBTK, RXRA-COL5A1, COL5A1, FOXO1, LRRK1, and ZNF469 (P < 1.25E-3). These findings provide further insight into the genetic architecture of CCT and illustrate that the use of minority groups in GWAS will help identify additional loci.3

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Section: Pathway Analysismentioning

confidence: 99%

Section: Pathway Analysismentioning

confidence: 99%

Genome-wide association study identifiesWNT7Bas a novel locus for central corneal thickness in Latinos

Gao¹,

Nannini²,

Corrao³

et al. 2016

Hum. Mol. Genet.

View full text Add to dashboard Cite

show abstract

“…These approaches have included ISH screens, subtractive hybridization strategies, and microarrays using mouse, human, and chick anterior segment structures (Thut et al, 2001;Escribano and CocaPrados, 2002;Kubota et al, 2004;Diehn et al, 2005). In the current study, a combination of single-cell transcriptional profiling and ISH was used to identify markers of the ciliary body in the developing mouse and chick retina.…”

Section: Comparison Of Ciliary Body Marker Studiesmentioning

confidence: 99%

“…These analyses utilized either a microarraybased approach (Diehn et al, 2005) or EST database mining (Escribano and Coca-Prados, 2002) to produce lists of candidate ciliary body-specific genes.…”

Section: Comparison Of Ciliary Body Marker Studiesmentioning

confidence: 99%

Identification of genes expressed preferentially in the developing peripheral margin of the optic cup

Trimarchi

Cho

Cepko

2009

Developmental Dynamics

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Specification of the peripheral optic cup by Wnt signaling is critical for formation of the ciliary body/iris. Identification of marker genes for this region during development provides a starting point for functional analyses. During transcriptional profiling of single cells from the developing eye, two cells were identified that expressed genes not found in most other single cell profiles. In situ hybridizations demonstrated that many of these genes were expressed in the peripheral optic cup in both early mouse and chicken development, and in the ciliary body/iris at subsequent developmental stages. These analyses indicate that the two cells probably originated from the developing ciliary body/iris. Changes in expression of these genes were assayed in embryonic chicken retinas when canonical Wnt signaling was ectopically activated by CA-␤-catenin. Twelve ciliary body/iris genes were identified as upregulated following induction, suggesting they are excellent candidates for downstream effectors of Wnt signaling in the optic cup. Developmental

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“…Several groups have reported the gene expression profile of fresh limbal and corneal epithelial cells which has significantly contributed to the understanding of cellular pathways and phenotype (1,2). Surprisingly, the molecular profiling of long-term organ culture media-stored corneal epithelium has not been reported in the literature.…”

Section: Introductionmentioning

confidence: 99%

Molecular profile of organ culture-stored corneal epithelium: Lgr5 is a potential new phenotypic marker of residual human corneal limbal epithelial stem cells

et al. 2012

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Abstract. Long-term preservation of corneal limbal epithelium may decrease its quality and change the molecular signature of the limbal epithelial stem cells. In this study we have investigated the molecular profile of isolated corneal epithelial cells that have been in storage for an extended time. Isolated cells were characterised by the expression profile of different cytokeratins and markers of squamous metaplasia (vimentin and α-actin). Furthermore, we examined global markers of adult stem cells including p63α and ABCG2 but also LGR5 as a novel stem cell marker. Immunocytochemical staining and PCR analysis of p63α, ABCG2 and LGR5 revealed the existence of side-population cells with a stem-cell phenotype and maintenance of corneal limbal stem cell properties. LGR5 expression can be related to cellular stemness and can be considered as a new phenotypic marker of residual human corneal limbal stem cells. However, the existence of CK10 together with co-expressed α-actin and vimentin suggests that the corneas investigated were under oxidative stress and showed evidence of squamous metaplasia.

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Differential gene expression in anatomical compartments of the human eye

Cited by 25 publications

References 12 publications

Genome-wide association study identifiesWNT7Bas a novel locus for central corneal thickness in Latinos

Genome-wide association study identifiesWNT7Bas a novel locus for central corneal thickness in Latinos

Identification of genes expressed preferentially in the developing peripheral margin of the optic cup

Molecular profile of organ culture-stored corneal epithelium: Lgr5 is a potential new phenotypic marker of residual human corneal limbal epithelial stem cells

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