p57KIP2 targeted disruption and Beckwith-Wiedemann syndrome: is the inhibitor just a contributor?
Beckwith-Wiedemann syndrome is a human congenital disorder characterized by a wide variety of growth abnormalities, including developmental defects and predisposition to certain tumors. Genetic evidence has suggested a role for p57KIP2, a member of a family of cell cycle inhibitory genes, in Beckwith-Wiedemann syndrome. Two independent groups have reported the generation and characterization of mice lacking functional p57KIP2. These mice demonstrate a number of abnormal phenotypes which overlap with, although do not completely recapitulate, Beckwith-Wiedemann syndrome. These findings advance the molecular characterization of a human disorder, and provide insight into the interplay between regulation of cell division and development.
Swanger
W J
WJ
Fred Hutchinson Cancer Research Center, Seattle, WA 98107, USA. jswanger@fred.fhcrc.org
Roberts
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics; D000818:Animals; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D002453:Cell Cycle / Q000235:genetics; D050761:Cyclin-Dependent Kinase Inhibitor p57; D004791:Enzyme Inhibitors; D006801:Humans; D007335:Insulin-Like Growth Factor II / Q000096:biosynthesis / Q000235:genetics; D051379:Mice; D018345:Mice, Knockout; D008822:Mice, Transgenic; D009687:Nuclear Proteins / Q000172:deficiency* / Q000235:genetics*
C493964:CDKN1C protein, human; C493965:Cdkn1c protein, mouse; D050761:Cyclin-Dependent Kinase Inhibitor p57; D004791:Enzyme Inhibitors; D009687:Nuclear Proteins; D007335:Insulin-Like Growth Factor II