An imprinted gene p57KIP2 is mutated in Beckwith–Wiedemann syndrome

  title={An imprinted gene p57KIP2 is mutated in Beckwith–Wiedemann syndrome},
  author={Izuho Hatada and Hirofumi Ohashi and Yoshimitsu Fukushima and Yasuhiko Kaneko and Masahiro Inoue and Yosuke Komoto and Akira Okada and Sachiko Ohishi and Akira Nabetani and Hiroko Morisaki and Masahiro Nakayama and Norio Niikawa and Tsunehiro Mukai},
  journal={Nature Genetics},
p57KIP2 is a potent tight-binding inhibitor of several G1 cyclin/Cdk complexes, and is a negative regulator of cell proliferation1,2. The gene encoding p57KIP2 is located at 11p15.5 (ref. 2), a region implicated in both sporadic cancers and Beckwith-Wiedemann syndrome, a cancer-predisposing syndrome, making it a tumour-suppressor candidate. Several types of childhood tumours including Wilms' tumour, adrenocortical carcinoma and rhabdomyosarcoma exhibit a specific loss of maternal 11p15 alleles… CONTINUE READING


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