title: 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.affiliation: Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio, 78284, USA.
authors.forename: Z
authors.initials: Z
authors.lastname: Wang
authors.forename: J D
authors.initials: JD
authors.lastname: Cody
authors.forename: R J
authors.initials: RJ
authors.lastname: Leach
authors.forename: P
authors.initials: P
authors.lastname: O'Connell
mesh_terms: D015152:Blotting, Northern; D002460:Cell Line; D002675:Child, Preschool; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D004268:DNA-Binding Proteins / Q000235:genetics; D020224:Expressed Sequence Tags; D005260:Female; D018628:Gene Dosage; D005786:Gene Expression Regulation; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D007070:Immunoglobulin A / Q000032:analysis; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008957:Models, Genetic; D050778:NFATC Transcription Factors; D009687:Nuclear Proteins; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013577:Syndrome; D014018:Tissue Distribution; D014157:Transcription Factors / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D005819:Genetic Markers; D007070:Immunoglobulin A; D050778:NFATC Transcription Factors; C494003:NFATC1 protein, human; D009687:Nuclear Proteins; D014157:Transcription Factors