Article
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21.
Nature - 1 Jun 2006
Arron Joseph R, Winslow Monte M, Polleri Alberto, Chang Ching-Pin, Wu Hai, Gao Xin, Neilson Joel R, Chen Lei, Heit Jeremy J, Kim Seung K, Yamasaki Nobuyuki, Miyakawa Tsuyoshi, Francke Uta, Graef Isabella A, Crabtree Gerald R
Abstract excerpt
Trisomy 21 results in Down's syndrome, but little is known about how a 1.5-fold increase in gene dosage produces the pleiotropic phenotypes of Down's syndrome. Here we report that two genes, DSCR1 and DYRK1A , lie within the critical region of human chromosome 21 and act synergistically to prevent nuclear occupancy of NFATc transcription factors, which are regulators of vertebrate development. We use mathematical...
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