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Nature 441, 582-583 (1 June 2006) | doi:10.1038/441582a; Published online 31 May 2006

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Down's syndrome: Critical genes in a critical region

Charles J. Epstein1

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The NFAT transcription factors activate the expression of many genes involved in the immune response and the development of a variety of tissues. They have now been implicated in Down's syndrome.

Down's syndrome is most commonly caused by the presence of an extra copy of the major portion of human chromosome 21. But how does the presence of an extra set of the roughly 200–300 genes on the chromosome give rise to the many abnormalities that characterize the condition?

  1. Charles J. Epstein is in the Department of Pediatrics and the Center for Human Genetics, University of California, San Francisco, Rock Hall 584B, 1550 4th Street, San Francisco, California 94143-2911, USA.
    Email: charles.epstein@ucsf.edu