Gene expression patterns in cell lines from patients with 18q- syndrome.

Abstract	Some studies have suggested that for trisomies, some genes are expressed far in excess of the expected 150% level and that this "dysregulation" is one of the mechanisms for the pathogenesis of trisomies. In an attempt to generalize this result to a monosomy, we examined mRNA isolated from lymphoblastoid cell lines derived from patients with 18q- syndrome, a deletion syndrome involving loss of the distal long arm of chromosome 18. Expression levels of ten chromosome 18 genes were compared between cell lines from eight patients with 18q- syndrome and four diploid controls. Gene expression was investigated by a quantitative reverse-transcription polymerase chain reaction (RT-PCR) method. With the exception of the transcription factor NFATC1, which shows a tendency towards gene dosage compensation (the expression pattern correlates with IgA deficiency), all of the other genes were expressed at a level proportional to their gene copy number. This was true regardless of mRNA abundance or different patterns of gene expression (ubiquitous versus tissue-specific gene expression). These results indicate that, unlike dysregulated gene expression apparent in some trisomies, this monosomic syndrome is largely due to consequences of reduced gene expression.
Authors	Z Wang, J D Cody, R J Leach, P O'Connell
Journal	Human genetics (Hum Genet) Vol. 104 Issue 6 Pg. 467-75 (Jun 1999) ISSN: 0340-6717 [Print] Germany
PMID	10453734 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
Chemical References	DNA-Binding Proteins Genetic Markers Immunoglobulin A NFATC Transcription Factors NFATC1 protein, human Nuclear Proteins Transcription Factors
Topics	Blotting, Northern Cell Line Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 18 DNA-Binding Proteins (genetics) Expressed Sequence Tags Female Gene Dosage Gene Expression Regulation Genetic Markers Genotype Humans Immunoglobulin A (analysis) Infant Infant, Newborn Male Models, Genetic NFATC Transcription Factors Nuclear Proteins Reverse Transcriptase Polymerase Chain Reaction Syndrome Tissue Distribution Transcription Factors (genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!