Epigenetic modifications of caveolae associated proteins in health and disease

Low, Jin-Yih; Nicholson, Helen

doi:10.1186/s12863-015-0231-y

Cited by 13 publications

(14 citation statements)

References 105 publications

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“…, 2002a , b ; Nassar et al. , 2013 ; Low and Nicholson 2015 ). Thus down-regulation of CAV1 and/or caveolae accessory proteins may have multiple consequences in signaling pathways relevant to PAH.…”

Section: Discussionmentioning

confidence: 99%

A disease-associated frameshift mutation in caveolin-1 disrupts caveolae formation and function through introduction of a de novo ER retention signal

Copeland

Han

Tiwari

et al. 2017

MBoC

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Section: Discussionmentioning

confidence: 99%

A disease-associated frameshift mutation in caveolin-1 disrupts caveolae formation and function through introduction of a de novo ER retention signal

Copeland

Han

Tiwari

et al. 2017

MBoC

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“…While studying this interaction, we found that in neuronal cells, overexpression of ERα (encoded by ESR1 ) silences CAV1 expression, and CAV1 expression is restored when ERα and ERβ are both over-expressed. This suggests that ERβ has an inhibitory effect on ERα-dependent CAV1 expression (Low and Nicholson, 2015). When we consider interactions between estrogen, TGF-β and CAV1 signaling along with the population-based studies, it appears that the estrogen pathway may play an important role in the regulation aqueous outflow and the development of OHT.…”

Section: Pathway Analysis and Functional Annotationmentioning

confidence: 99%

Characterizing the “POAGome”: A bioinformatics-driven approach to primary open-angle glaucoma

Danford

Verkuil

Choi

et al. 2017

Progress in Retinal and Eye Research

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Primary open-angle glaucoma (POAG) is a genetically, physiologically, and phenotypically complex neurodegenerative disorder. This study addressed the expanding collection of genes associated with POAG, referred to as the “POAGome.” We used bioinformatics tools to perform an extensive, systematic literature search and compiled 542 genes with confirmed associations with POAG and its related phenotypes (normal tension glaucoma, ocular hypertension, juvenile open-angle glaucoma, and primary congenital glaucoma). The genes were classified according to their associated ocular tissues and phenotypes, and functional annotation and pathway analyses were subsequently performed. Our study reveals that no single molecular pathway can encompass the pathophysiology of POAG. The analyses suggested that inflammation and senescence may play pivotal roles in both the development and perpetuation of the retinal ganglion cell degeneration seen in POAG. The TGF-β signaling pathway was repeatedly implicated in our analyses, suggesting that it may be an important contributor to the manifestation of POAG in the anterior and posterior segments of the globe. We propose a molecular model of POAG revolving around TGF-β signaling, which incorporates the roles of inflammation and senescence in this disease. Finally, we highlight emerging molecular therapies that show promise for treating POAG.

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“…Interestingly, 55% of these genes were hypomethylated in basal B, including CAV1 and PTRF (caveolae associated protein coding genes). Epigenetic modification of these caveolae related genes was recently reported to be associated with disease [45]. Furthermore, a significant influence of CpGI shore methylation on CAV1 in breast cancer was previously reported [20].…”

Section: Resultsmentioning

confidence: 99%

Subtype-specific CpG island shore methylation and mutation patterns in 30 breast cancer cell lines

et al. 2016

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BackgroundAberrant epigenetic modifications, including DNA methylation, are key regulators of gene activity in tumorigenesis. Breast cancer is a heterogeneous disease, and large-scale analyses indicate that tumor from normal and benign tissues, as well as molecular subtypes of breast cancer, can be distinguished based on their distinct genomic, transcriptomic, and epigenomic profiles. In this study, we used affinity-based methylation sequencing data in 30 breast cancer cell lines representing functionally distinct cancer subtypes to investigate methylation and mutation patterns at the whole genome level.ResultsOur analysis revealed significant differences in CpG island (CpGI) shore methylation and mutation patterns among breast cancer subtypes. In particular, the basal-like B type, a highly aggressive form of the disease, displayed distinct CpGI shore hypomethylation patterns that were significantly associated with downstream gene regulation. We determined that mutation rates at CpG sites were highly correlated with DNA methylation status and observed distinct mutation rates among the breast cancer subtypes. These findings were validated by using targeted bisulfite sequencing of differentially expressed genes (n=85) among the cell lines.ConclusionsOur results suggest that alterations in DNA methylation play critical roles in gene regulatory process as well as cytosine substitution rates at CpG sites in molecular subtypes of breast cancer.Electronic supplementary materialThe online version of this article (doi:10.1186/s12918-016-0356-2) contains supplementary material, which is available to authorized users.

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Epigenetic modifications of caveolae associated proteins in health and disease

Cited by 13 publications

References 105 publications

A disease-associated frameshift mutation in caveolin-1 disrupts caveolae formation and function through introduction of a de novo ER retention signal

A disease-associated frameshift mutation in caveolin-1 disrupts caveolae formation and function through introduction of a de novo ER retention signal

Characterizing the “POAGome”: A bioinformatics-driven approach to primary open-angle glaucoma

Subtype-specific CpG island shore methylation and mutation patterns in 30 breast cancer cell lines

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