TY - JOUR
AU - Higgs, Douglas R.
AB - © 1997 Nature Publishing Group http://www.nature.com/naturegenetics correspondl ce Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain n addition to classical transcription fac­ stantiate the role of these domains in v ivo. tion of a discrete set of target genes • Splic­ I tors, a diverse group of trans-acting pro­ We recently characterized an entirely new, ing mutations that produce up to 30% nor­ 5 6 teins may affect eukaryotic gene expression X-encoded member (ATRX) of the SNF2 mal mRNA also cause ATR-X syndrome • , 1 4 5 by influencing chromatin structure • Some family of proteins • . As with other mem­ suggesting that, like other chromatin-asso ­ of these proteins form large multiprotein bers of this group (SWI2/SNF2 , brahma, ciated proteins, ATRX may be required in complexes, which are targetted to subsets STHI and MOTl), there is circumstantial carefully controlled stoichiometric amounts. of apparently unrelated genes. We do not evidence that ATRX modifies gene expres­ ATRX mutations downregulate a-globin know how these proteins interact or how sion by affecting chromatin. Diverse muta­ gene expression, causing a-thalassaemia, they are recruited to their targets. Both tions in the central portion of the gene, 
TI - Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain
JF - Nature Genetics
DO - 10.1038/ng1097-146
DA - 1997-10-01
UR - https://www.deepdyve.com/lp/springer-journals/mutations-in-transcriptional-regulator-atrx-establish-the-functional-A0F0cq2iKJ
SP - 146
EP - 148
VL - 17
IS - 2
DP - DeepDyve
ER -