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P57 KIP2 targeted disruption and beckwith‐wiedemann syndrome: Is the inhibitor just a contributor?
Author(s) -
Swanger W. Jherek,
Roberts James M.
Publication year - 1997
Publication title -
bioessays
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.175
H-Index - 184
eISSN - 1521-1878
pISSN - 0265-9247
DOI - 10.1002/bies.950191002
Subject(s) - beckwith–wiedemann syndrome , biology , genetics , phenotype , genetic predisposition , gene , gene expression , dna methylation
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 p57 KIP2 , a member of a family of cell cycle inhibitory genes, in Beckwith‐Wiedemann syndrome. Two independent groups (1,2) have reported the generation and characterization of mice lacking functional p57 KIP2 , 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.