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Title of the item:

A Marfan syndrome gene expression phenotype in cultured skin fibroblasts

Title :
A Marfan syndrome gene expression phenotype in cultured skin fibroblasts
Authors :
Emond Mary
Morale Cecile Z
Ruzzo Walter L
Jaeger Jochen C
Yao Zizhen
Francke Uta
Milewicz Dianna M
Schwartz Stephen M
Mulvihill Eileen R
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Subject Terms :
Biotechnology
TP248.13-248.65
Genetics
QH426-470
Source :
BMC Genomics, Vol 8, Iss 1, p 319 (2007)
Publisher :
BMC, 2007.
Publication Year :
2007
Collection :
LCC:Biotechnology
LCC:Genetics
Document Type :
article
File Description :
electronic resource
Language :
English
ISSN :
1471-2164
Relation :
http://www.biomedcentral.com/1471-2164/8/319; https://doaj.org/toc/1471-2164
DOI :
10.1186/1471-2164-8-319
Access URL :
https://doaj.org/article/3bf2061c0fa642af88fad0bcff320adb
Accession Number :
edsdoj.3bf2061c0fa642af88fad0bcff320adb
Academic Journal
Abstract Background Marfan syndrome (MFS) is a heritable connective tissue disorder caused by mutations in the fibrillin-1 gene. This syndrome constitutes a significant identifiable subtype of aortic aneurysmal disease, accounting for over 5% of ascending and thoracic aortic aneurysms. Results We used spotted membrane DNA macroarrays to identify genes whose altered expression levels may contribute to the phenotype of the disease. Our analysis of 4132 genes identified a subset with significant expression differences between skin fibroblast cultures from unaffected controls versus cultures from affected individuals with known fibrillin-1 mutations. Subsequently, 10 genes were chosen for validation by quantitative RT-PCR. Conclusion Differential expression of many of the validated genes was associated with MFS samples when an additional group of unaffected and MFS affected subjects were analyzed (p-value < 3 × 10-6 under the null hypothesis that expression levels in cultured fibroblasts are unaffected by MFS status). An unexpected observation was the range of individual gene expression. In unaffected control subjects, expression ranges exceeding 10 fold were seen in many of the genes selected for qRT-PCR validation. The variation in expression in the MFS affected subjects was even greater.

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