Altered Cell Differentiation and Proliferation in Mice Lacking p57KIP2 Indicates a Role in Beckwith-Wiedemann Syndrome

Nature. 1997 May 8;387(6629):151-8. doi: 10.1038/387151a0.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abdomen
  • Abnormalities, Multiple / embryology
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adrenal Cortex / embryology
  • Adrenal Cortex / pathology
  • Animals
  • Animals, Newborn
  • Apoptosis
  • Beckwith-Wiedemann Syndrome / genetics*
  • Beckwith-Wiedemann Syndrome / metabolism
  • Beckwith-Wiedemann Syndrome / pathology
  • Cartilage / cytology
  • Cartilage / metabolism
  • Cartilage / pathology
  • Cell Differentiation*
  • Cell Division*
  • Crosses, Genetic
  • Cyclin-Dependent Kinase Inhibitor p57
  • Cyclin-Dependent Kinases / antagonists & inhibitors
  • Enzyme Inhibitors
  • Female
  • Gene Expression
  • Gene Targeting
  • Hernia, Umbilical / embryology
  • Hernia, Umbilical / genetics
  • Hernia, Umbilical / pathology
  • Kidney Medulla / embryology
  • Kidney Medulla / pathology
  • Lens, Crystalline / cytology
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Muscle, Skeletal / embryology
  • Muscle, Skeletal / pathology
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / physiology
  • Osteogenesis

Substances

  • Cdkn1c protein, mouse
  • Cyclin-Dependent Kinase Inhibitor p57
  • Enzyme Inhibitors
  • Nuclear Proteins
  • Cyclin-Dependent Kinases