Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome

• Published in: Genome biology Vol. 14; no. 11; p. R122
• Main Authors: Cotton, Allison M, Ge, Bing, Light, Nicholas, Adoue, Veronique, Pastinen, Tomi, Brown, Carolyn J
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 01.11.2013; BioMed Central
• Subjects: Alleles; Chromosomes, Human, X - genetics; Female; Gene Expression Regulation; Genes, X-Linked - genetics; Humans; Multigene Family; Polymorphism, Single Nucleotide; X Chromosome Inactivation - genetics

X-chromosome inactivation (XCI) results in the silencing of most genes on one X chromosome, yielding mono-allelic expression in individual cells. However, random XCI results in expression of both alleles in most females. Allelic imbalances have been used genome-wide to detect mono-allelically expres...