Beckwith wiedemann syndrome
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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.

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& Beckwith-Wiedemann Syndrome

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Beckwith wiedemann syndrome

p57

April 2nd 2013

&Beckwith-Wiedemann Syndrome

Brandon Ballance


Beckwith wiedemann syndrome1

Beckwith-Wiedemann Syndrome

Risk of developing cancer:

7.5%


Genes associated with bws

Genes Associated with BWS

CDKN1C


Genetic imprinting

Genetic Imprinting

1 in 13,700

Children

OnlyMATERNAL alleleexpressed!

CH3

CH3


Beckwith wiedemann syndrome

Familial Inheritance Pattern

Mutated maternal allele = BWS

Mutated paternal allele = CARRIER

UPD


What does the protein d o

What Does the Protein Do?

CDKN1C

p57 (KIP2)

G1 Cyclin-CDK Complexes

p57

= TUMOR SUPPRESSOR


Beckwith wiedemann syndrome

Model Organism: Knockout Mice

NOtumors developed


Beckwith wiedemann syndrome

Grafted Prostates from Null Mice

Tumors!


Works cited

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.

TunsterSJ, 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>.


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