X-inactivation profile reveals extensive variability in X-linked gene expression in females

Laura Carrel () and Huntington F. Willard
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Laura Carrel: Pennsylvania State University College of Medicine
Huntington F. Willard: Duke University

Nature, 2005, vol. 434, issue 7031, 400-404

Abstract: The human X chromosome The detailed sequence of the human X chromosome is published this week, together with a survey of inactivated X genes in females. Females have two Xs and males have one X and a Y; to make the gene dosage equivalent, females inactivate almost an entire chromosome. The X inactivation profile has important clinical implications, as the unique nature of sex chromosomes means that it contains a disproportionate number of disease-causing genes. With both the X and Y chromosomes sequenced, their evolution from a pair of ‘normal’ chromosomes can be studied in detail. The cover, by Alfred Pasieka (Science Photo Library), depicts the inactivation signal starting at the middle of the chromosome (where it is reddest) and moving out through the arms.

Date: 2005
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DOI: 10.1038/nature03479

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