NDLI: Functional analysis of the p57 KIP2 gene mutation in Beckwith-Wiedemann syndrome

Content Provider	Springer Nature Link
Author	Bhuiyan, Zahurul A. Yatsuki, Hitomi Sasaguri, Toshiyuki Joh, Keiichiro Soejima, Hidebu Zhu, Xike Hatada, Izuho Morisaki, Hiroko Morisaki, Takayuki Mukai, Tsunehiro
Copyright Year	1999
Abstract	p57 KIP2 is a potent tight-binding inhibitor of several G1 cyclin/cyclin-dependent kinase (Cdk) complexes, and is a negative regulator of cell proliferation. The gene encoding p57 KIP2 is located at 11p15.5, a region implicated in both sporadic cancers and Beckwith-Wiedemann syndrome (BWS). Previously we demonstrated that p57 KIP2 is imprinted and only the maternal allele is expressed in both mice and humans. We also showed mutations found in p57 KIP2 in patients with BWS that were transmitted from the patients’ carrier mothers, indicating that the expressed maternal allele was mutant and that the repressed paternal allele was normal. In the study reported here, we performed functional analysis of the two mutated p57 KIP2 genes. We showed that the nonsense mutation found in the Cdk inhibitory domain in a BWS patient rendered the protein inactive with consequent complete loss of its role as a cell cycle inhibitor and of its nuclear localization. We also showed that the mutation in the QT domain, although completely retaining its cell cycle regulatory activity, lacked nuclear localization and was thus prevented from performing its role as an active cell cycle inhibitor. Consequently, no active p57 KIP2 would have existed, which might have caused the disorders in BWS patients.
Starting Page	205
Ending Page	210
Page Count	6
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	104
Issue Number	3
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	1999-04-09
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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