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Science 1 October 1999:
Vol. 286. no. 5437, p. 27
DOI: 10.1126/science.286.5437.27
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News of the Week

HUMAN GENETICS:
Gene Defect Linked to Rett Syndrome

Trisha Gura

Researchers may have tracked down the gene at fault in Rett syndrome, which afflicts at least one in 10,000 girls and is second only to Down syndrome as a cause of female retardation. In the October issue of Nature Genetics, geneticists report that mutations in a gene called MeCP2 cause nearly a third of the Rett syndrome cases they studied. The researchers do not yet know why mutations in the gene, which encodes a protein that helps "silence," or shut down, other genes that have been tagged with a methyl group during development, cause the defects of Rett syndrome. But the group is the first to link a human disease to a defect in gene silencing.

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Science. ISSN 0036-8075 (print), 1095-9203 (online)