Dec 10, 2009

Dosage regulation of the active X chromosome in human triploid cells

PLoS Genetics
Xinxian DengChristine M Disteche

Abstract

In mammals, dosage compensation is achieved by doubling expression of X-linked genes in both sexes, together with X inactivation in females. Up-regulation of the active X chromosome may be controlled by DNA sequence-based and/or epigenetic mechanisms that double the X output potentially in response to autosomal factor(s). To determine whether X expression is adjusted depending on ploidy, we used expression arrays to compare X-linked and autosomal gene expression in human triploid cells. While the average X:autosome expression ratio was about 1 in normal diploid cells, this ratio was lower (0.81-0.84) in triploid cells with one active X and higher (1.32-1.4) in triploid cells with two active X's. Thus, overall X-linked gene expression in triploid cells does not strictly respond to an autosomal factor, nor is it adjusted to achieve a perfect balance. The unbalanced X:autosome expression ratios that we observed could contribute to the abnormal phenotypes associated with triploidy. Absolute autosomal expression levels per gene copy were similar in triploid versus diploid cells, indicating no apparent global effect on autosomal expression. In triploid cells with two active X's our data support a basic doubling of X-linked gene expre...Continue Reading

Mentioned in this Paper

Calcinus elegans
Embryo
Cyartonema elegans
Neuro-Oncological Ventral Antigen 2
TXLNG2P gene
Coleonyx elegans
KDM5C gene
Y Chromosome
Cestrum elegans
Gene Dosage

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