& beckwith-wiedemann syndrome

&

Beckwith-Wiedemann

Syndrome

Brandon Ballance

p57

April 2nd 2013

Beckwith-Wiedemann Syndrome

Risk of developing cancer: 7.5%

Genes Associated with BWS

CDKN1C

Genetic Imprinting 1 in 13,700

Children

CH3

CH3

Only MATERNAL allele expressed!

Familial Inheritance Pattern

Mutated maternal allele = BWS

Mutated paternal allele =

CARRIERUPD

What Does the Protein Do?

G1 Cyclin-CDK

Complexes

p57 (KIP2)

= TUMOR SUPPRESSORp57

CDKN1C

Model Organism: Knockout Mice

NO tumors developed

Grafted Prostates from Null Mice

Tumors!

Works Cited: "Beckwith-Wiedemann Syndrome." Humpath.com. N.p., 17 Sept. 2003. Web. <http://www.humpath.com/spip.php?article824>.Hatada, I., Mukai, T. Genomic imprinting of p57(KIP2), a cyclin-dependent kinase inhibitor, in mouse. Nature Genet. 11: 204- 206, 1995. Jin RJ, et al. Down-regulation of p57(Kip2) induces prostate cancer in the mouse. Cancer Res. 2008;68:3601-3608. Lee, M.-H., Reynisdottir, I., Massague, J. Cloning of p57(KIP2), a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution. Genes Dev. 9: 639-649, 1995.Pateras IS, Apostolopoulou K, Niforou K, Kotsinas A, Gorgoulis VG. p57KIP2: “Kip”ing the cell under control. Mol. Cancer Res. 2009;7:1902-1919.Pilu, Gianluigi. "The Global Library of Women’s Medicine." Ultrasound Atlas. The International Society of Ultrasound in Obstetrics & Gynecology, n.d. Web. <http://www.glowm.com/ultrasoundAtlas>.Sparago A., Russo S., Cerrato F., Ferraiuolo S., Castorina P., Selicorni A., Schwienbacher C., Negrini M., Ferrero G.B., Silengo M.C., et al. Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms’ tumour. Hum. Mol. Genet. 2007;16:254-264.Tunster SJ, Van De Pette M, John RM. Fetal overgrowth in the Cdkn1c mouse model of Beckwith-Wiedemann syndrome. DMM Disease Models and Mechanisms. 2011;4(6):814–821."What Is Beckwith Wiedemann Syndrom?" Assisting Families and Individuals Affected with BWS. Beckwith Wiedemann Children's Assn of NZ (Inc), n.d. Web. <http://www.bwcanz.org/What-is-Beckwith-Wiedemann-Syndrome-.php>.