title: Allele-specific X-linked gene activity in normal human cells assayed by expressed single nucleotide polymorphisms (cSNPs).
abstract: In mammals, dosage compensation at X-linked loci is achieved by the process of X chromosome inactivation in the homogametic sex. While most genes on the inactive X chromosome (Xi) are subjected to transcriptional inactivation, some escape inactivation and present biallelic expression. The expression status of X-linked genes has been extensively studied in somatic cell hybrids containing only the human Xi. Although this approach has recently been used to generate a profile of X-linked gene activity, it may not reflect what happens in a normal human cell. The recent development of a database of single nucleotide polymorphisms (SNPs) throughout the human genome enables investigation of allele-specific gene expression in normal human cells. In this study, we established a panel of X-linked expressed SNPs (cSNPs). These markers were used for monitoring gene expression in primary human fibroblast cell lines with completely skewed XCI, demonstrating the potential of this system for studying X-linked gene expression in normal human cells.
authors.affiliation: Depto. Biologia, Instituto de Biociências, Universidade de São Paulo, SP, Brazil.
authors.forename: L R
authors.initials: LR
authors.lastname: Vasques
authors.forename: L V
authors.initials: LV
authors.lastname: Pereira
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002460:Cell Line; D018076:DNA, Complementary / Q000235:genetics; D004303:Dosage Compensation, Genetic; D005260:Female; D015870:Gene Expression; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D014960:X Chromosome / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; D005819:Genetic Markers; D007041:Hypoxanthine Phosphoribosyltransferase