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Expression profiling of Setleis vs Control lymphoblastoid cells

ABSTRACT: Background: Setleis Syndrome (SS) is a rare focal facial dermal dysplasia frequently found in Puerto Ricans, presenting with bilateral temporal skin lesions, eyelash abnormalities and absent meibomian glands. SS is caused by homozygous mutations in the TWIST2 gene, which codes for a transcription factor of the bHLH family known to be involved in skin and facial development. Methods: We obtained gene expression profiles by microarray analyses from control and Setleis Syndrome patient primary skin fibroblast and lymphoblastoid cell lines. Results: Out of 983 differentially regulated genes in fibroblasts, 479 were down-regulated and 504 were up-regulated, while in lymphoblasts a greater number of differentially regulated genes (1248 down-regulated and 73 up-regulated) were found after microarray analysis. Real time PCR reactions confirmed altered expression of several differentially regulated genes. Conclusion: TWIST2 is described as a repressor, but expression profiling indicates it has a role in gene activation, as evidenced by the much higher proportion of down-regulated genes in cells from SS patients, including cytokine genes, in fibroblasts, the top three networks involved genes that function in Cancer, Nervous System Development and Function, Lipid Metabolism, Molecular Transport and Organismal Injury and Abnormalities. In Lymphoblastoid cells, the top three networks involved genes in Endocrine System Disorders, Cell Cycle, Cellular Assembly and Organization, Cardiovascular Disease and Developmental Disorders

ORGANISM(S): Homo sapiens

PROVIDER: GSE160893 | GEO | 2020/11/06

REPOSITORIES: GEO

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Expression data from skin fibroblasts derived from Setleis Syndrome patients and normal controls

Project description:Setleis Syndrome is a rare type of facial ectodermal dysplasia characterized by an aged leonine appearance with puckered skin about the eyes, absent eyelashes on both lids or multiple rows on the upper lids and none on the lower lids, eyebrows that slant sharply upward laterally, and a rubbery feel of the nose and chin. Some of the patients showed bilateral temporal marks superficially like forceps marks and like the lesions seen in focal facial dermal dysplasia. We have evidence that Setleis Syndrome is caused by nonsense mutations in the gene coding for the small bHLH transcription factor known as TWIST2 in Puerto Rican and Omani patients. We performed expression microarray analysis of RNA samples derived from skin fibroblasts grown from skin biopsies of Setleis Syndrome patients and normal controls in order to identify genes potentially involved in facial development and the pathogenesis of Setleis Syndrome. A total of 4 control and 4 Setleis Syndrome RNA samples were hybridized to U133 plus 2 Affymetrix 3'IVT arrays in the Mount Sinai School of Medicine Microarray Core Facility.

2009-06-11 | E-GEOD-16524 | biostudies-arrayexpress

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DNA microarray analysis of labial salivary glands in IgG4-related disease – comparison with Sjögren’s syndrome

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