& beckwith-wiedemann syndrome
DESCRIPTION
p57. April 2 nd 2013. & Beckwith-Wiedemann Syndrome. Brandon Ballance. Beckwith-Wiedemann Syndrome. Risk of developing cancer : 7.5%. Genes Associated with BWS. CDKN1C. Genetic Imprinting. 1 in 13,700 Children . Only MATERNAL allele expressed!. CH 3. CH 3. - PowerPoint PPT PresentationTRANSCRIPT
&
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>.