X-activation profile reveals extensive variability in X-linked gene expression in females
Article Abstract:
A comprehensive X-inactivation profile of human X chromosome, which represents an estimated 95% of assayable genes in fibroblast-based test systems, is presented. About 15% of X-linked genes escape inactivation to some degree, and the proportion of genes escaping inactivation differs dramatically between different regions of the X chromosomes, reflecting the evolutionary history of sex chromosomes and suggesting an unsuspected degree of expression heterogeneity among females.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 2005
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In search of normality
Article Abstract:
The first map of copy-number variation in the human genome is created to examine the role of such genome variation in disease and to explore the extent of 'normal' variability. The single nucleotide polymorphisms (SNPs) distinguish any two unrelated copies of genome and two complementary genome-wide technologies are used to detect all types of copy-number variants (CNVs).
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 2006
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