Linked Life Data

16211238

Source:http://linkedlifedata.com/resource/pubmed/id/16211238

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2005-10-7
pubmed:abstractText
Tuberous sclerosis (TSC) is an autosomal dominant tumor suppressor gene syndrome affecting about 1 in 6000 individuals. It is characterized by mental retardation and epilepsy. A variety of tumors characteristically occur in different organs of TSC patients. The genes, TSC1 on chromosome 9q34, encoding hamartin, and TSC2 on chromosome 16p13.3, encoding tuberin are responsible for TSC. Hamartin and tuberin form a complex providing a tentative explanation for the similar disease phenotype in TSC patients with mutations in either of these genes. Besides overlap in many features of patients with TSC1 and TSC2 mutations, data accumulated provide evidence for specific clinical differences. Here, we performed microarray analyses of the gene expression response to overexpressed TSC1 or TSC2 in HeLa cells. Out of 2400 analysed genes we found 115 genes to be up-regulated > or =2-fold upon ectopic TSC1 overexpression and 284 genes to be up-regulated > or =2-fold via TSC2. Only 34 of these genes were up-regulated by both, TSC1 and TSC2. Whereas only 7 genes were down-regulated > or =2-fold via TSC1, ectopic TSC2 triggered a > or =2-fold down-regulation of 113 genes. Only 3 of these genes were down-regulated by TSC1 and TSC2. This study provides new insights into the cellular roles of TSC proteins and promotes discussion on whether separable functions of these proteins might be associated with the clinical differences of TSC1- and TSC2-associated disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1019-6439
pubmed:author
pubmed:issnType
Print
pubmed:volume
27
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1411-24
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
The tuberous sclerosis genes, TSC1 and TSC2, trigger different gene expression responses.
pubmed:affiliation
Medical Genetics, Department of Obstetrics and Gynecology, Medical University of Vienna, A-1090 Vienna, Austria.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't