Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith-Wiedemann syndrome.
Mice lacking the imprinted Cdk inhibitor p57(KIP2) have altered cell proliferation and differentiation, leading to abdominal muscle defects; cleft palate; endochondral bone ossification defects with incomplete differentiation of hypertrophic chondrocytes; renal medullary dysplasia; adrenal cortical hyperplasia and cytomegaly; and lens cell hyperproliferation and apoptosis. Many of these phenotypes are also seen in patients with Beckwith-Wiedemann syndrome, a pleiotropic hereditary disorder characterized by overgrowth and predisposition to cancer, suggesting that loss of p57(KIP2) expression may play a role in the condition.
Zhang
P
P
Verna & Marrs McLean Department of Biochemistry, Baylor College of Medicine, Houston, Texas 77030, USA.
Liégeois
N J
NJ
Wong
C
C
Finegold
M
M
Hou
H
H
Thompson
J C
JC
Silverman
A
A
Harper
J W
JW
DePinho
R A
RA
Elledge
S J
SJ
D000005:Abdomen; D000015:Abnormalities, Multiple / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D000302:Adrenal Cortex / Q000196:embryology / Q000473:pathology; D000818:Animals; D000831:Animals, Newborn; D017209:Apoptosis; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002356:Cartilage / Q000166:cytology / Q000378:metabolism / Q000473:pathology; D002454:Cell Differentiation; D002455:Cell Division; D003433:Crosses, Genetic; D050761:Cyclin-Dependent Kinase Inhibitor p57; D018844:Cyclin-Dependent Kinases / Q000037:antagonists & inhibitors; D004791:Enzyme Inhibitors; D005260:Female; D015870:Gene Expression; D018390:Gene Targeting; D006554:Hernia, Umbilical / Q000196:embryology / Q000235:genetics / Q000473:pathology; D007679:Kidney Medulla / Q000196:embryology / Q000473:pathology; D007908:Lens, Crystalline / Q000166:cytology; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D018482:Muscle, Skeletal / Q000196:embryology / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics* / Q000502:physiology; D010012:Osteogenesis
C493965:Cdkn1c protein, mouse; D050761:Cyclin-Dependent Kinase Inhibitor p57; D004791:Enzyme Inhibitors; D009687:Nuclear Proteins; D018844:Cyclin-Dependent Kinases