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Gene expression patterns in cell lines from patients with 18q- syndrome
1Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio, 78284, USA.
Human Genetics
|August 24, 1999
Summary
Gene expression in 18q- syndrome is largely proportional to gene copy number, unlike some trisomies. This monosomic syndrome results from reduced gene expression, not widespread gene dysregulation.
Area of Science:
- Genetics
- Molecular Biology
- Human Disease
Background:
- Trisomies can cause pathogenesis through gene "dysregulation," where gene expression exceeds expected levels.
- The 18q- syndrome is a monosomy involving the loss of the distal long arm of chromosome 18.
Purpose of the Study:
- To investigate gene expression patterns in monosomy, specifically the 18q- syndrome.
- To determine if gene "dysregulation" observed in trisomies also occurs in monosomies.
Main Methods:
- Compared mRNA expression levels of ten chromosome 18 genes.
- Utilized quantitative reverse-transcription polymerase chain reaction (RT-PCR).
- Analyzed cell lines from eight patients with 18q- syndrome and four diploid controls.
Main Results:
- Most chromosome 18 genes showed expression proportional to gene copy number in 18q- syndrome.
- This proportionality held true irrespective of mRNA abundance or gene expression patterns.
- NFATC1 showed a tendency towards gene dosage compensation, correlating with IgA deficiency.
Conclusions:
- The 18q- syndrome is primarily caused by the consequences of reduced gene expression.
- Unlike some trisomies, widespread gene "dysregulation" is not a major mechanism in this monosomic syndrome.