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

被引:13
作者
Wang, ZQ
Cody, JD
Leach, RJ
O'Connell, P
机构
[1] Univ Texas, Hlth Sci Ctr, Dept Pathol, San Antonio, TX 78284 USA
[2] Univ Texas, Hlth Sci Ctr, Dept Cellular & Struct Biol, San Antonio, TX 78284 USA
关键词
D O I
10.1007/s004390050989
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
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页码:467 / 475
页数:9
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