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| Status |
Public on Nov 06, 2020 |
| Title |
Expression profiling of Setleis vs Control lymphoblastoid cells |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
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
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| Overall design |
We used lymphoblastoid cell lines generated by Epstein Barr virus transformation, grown in RPMI 1640 supplemented media, from Puerto Rican controls (unaffected, wild type for TWIST2) and a Puerto Rican Setleis Syndrome patient homozygous for the Q119X TWIST2 mutation. The two women whose blood was used to generate the lymphoblastoid cell lines were sisters.
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| Contributor(s) |
Cadilla CL |
| Citation missing |
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| NIH grant(s) |
| Grant ID |
Grant title |
Affiliation |
Name |
| U54 MD007600 |
Center for Colaborative Research in Minority Health and Health Disparities |
UNIVERSITY OF PUERTO RICO MEDICAL SCIENCES CAMPUS |
Emma Fernandez-Repollet |
| P20 GM103475 |
Centralized Research Instrumentation Core |
UNIVERSITY OF PUERTO RICO - CENTRAL ADMINISTRATION |
CARMEN LYDIA CADILLA |
| R25 GM061838 |
NIGMS RISE Program at the UPR Medical Sciences Campus |
UNIVERSITY OF PUERTO RICO MEDICAL SCIENCES CAMPUS |
CARMEN LYDIA CADILLA |
|
| Submission date |
Nov 05, 2020 |
| Last update date |
Nov 08, 2020 |
| Contact name |
Carmen Lydia Cadilla |
| E-mail(s) |
carmen.cadilla@upr.edu
|
| Phone |
7877544366
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| Organization name |
University of Puerto Rico School of Medicine
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| Department |
Biochemistry
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| Lab |
A640
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| Street address |
University of Puerto Rico Medical Sciences Campus, Area of Medical Center
|
| City |
San Juan |
| State/province |
PR |
| ZIP/Postal code |
00936 |
| Country |
Puerto Rico |
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| Platforms (1) |
| GPL5175 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [transcript (gene) version] |
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| Samples (6)
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| Relations |
| BioProject |
PRJNA674787 |
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