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Transcript 
Tim Lockney
What is p57?
Alias: CDKN1C
 316 Amino Acids long
 Localized in the Nucleus
 Important during development
 Localized to Chromosome 11p15.5

Matsuoka et al.
What type of protein is p57?
CDK-inhibitor
 p21 Family

?
?
Duronio, B.

Cip/Kip = CDK interacting protein/Kinase
inhibitory protein
http://www.getreligion.org/wpcontent/photos/Face_of_RPI___que
stion_mark.gif
p57 Function


Negative regulator
of cell cycle
Tumor Suppressor!
Mainprize, T.G. et al.
http://www.genome.jp/dbget-bin/show_pathway?hsa04110+1028
p57 Function
Also involved in
differentiation
 Can act as a
transcription factor
 MyoD keeps
myocyte a myocyte

Besson, A. et al.
p57 Function Summary
Tumor Suppressor
Over expression = G1 arrest
Can bind to Proliferating Cell Nuclear
Antigen (PCNA), a DNA polymerase Sigma
processivity factor, via its C terminus (aa
143–160), thereby blocking processive
DNA synthesis
 Differentiation
 Also involved in cytoskeletal dynamics and
apoptosis, but involvement remains
unclear.



What is Beckwith-Wiedemann
Syndrome?
http://beckwithwiedemannsyndrome.org/graphics/uploadfile/1276/dia_0025a_.jpg
COHEN JR., M.M.

1-13,000 or 1-15,000
BWS Tumors
Zhang, P. et al.
Cohen Jr., M.M.
http://images.google.com/imgres?imgurl=http://www.nlm.nih.gov/medlineplus/ency/image
s/ency/fullsize/9056.jpg&imgrefurl=http://www.nlm.nih.gov/medlineplus/ency/imagepages/
9056.htm&h=320&w=400&sz=11&hl=en&start=1&um=1&tbnid=9gfxNPLLdXZGM:&tbnh=99&tbnw=124&prev=/images%3Fq%3Dwilm%2527s%2Btumor%26um
%3D1%26hl%3Den%26safe%3Doff%26client%3Dfirefox-a%26rls%3Dorg.mozilla:en-
Connecting BWS with p57

Knockout mice
Mainprize, T.G. et al.
Zhang, P. et al.
Zhang, P. et al.
Knockout Mice Continued

Similarities
http://ezhost.org/graphics/uploadfile/1276/omphalocele_.jpg
Zhang, P. et al.
How does p57 cause BWS?
Imprinting: complex genetics
 “A process that causes genes to be
expressed according to their parental
origin,”
 Affects ~1000 human genes

 The ones important for development

p57 is an imprinted gene.
How does imprinting work?
Methylation
 Histone Acetylation (chromatin modeling)

http://genome.wellcome.ac.uk/assets/GEN10000675.jpg
Imprinting and BWS
Normally Maternal p57 is expressed
 Methylation is the main control
 Methylation is green light

 Uses methyl binding transcription factors
LOI
LOI can occur via
LOH
 LOM
 Or even a bad gene

Izuho Hatada et al.
K. Higashimoto et al.
Hatada I. et al.
Questions?
http://flickr.com/photos/46883783@N00/page4/
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