Beckwith-Wiedemann syndrome and associated tumors - Identification of factors essential for imprinting mechanisms

• Antragsteller: Professor Dr. Dirk Prawitt
• Fachliche Zuordnung: Humangenetik
• Förderung: Förderung von 2002 bis 2008
• Projektkennung: Deutsche Forschungsgemeinschaft (DFG) - Projektnummer 5370882

Beckwith-Wiedemann syndrom (BWS) - a congenital overgrowth syndrome with tumor predisposition - is a complex genetic disorder associated with chromosomal region 11p15 in which genomic imprinting seems to play an essential role. The basic defects involve multiple molecular mechanisms extending from single gene mutations to epigenetic phenomena. As imprinted genes of the BWS critical region are involved in development growth regulation, aberrant regulation of these genes could give rise to the BWS features overgrowth, malformations, and tumorgenesis. With our proposal we want to identify essential elements involved in the imprinting regulation of the chromosomal 11p-region. To this purpose, we will use a large BWS family to identify a putative imprinting center (IC). In parallel, we will take advantage of the on genomic level well defined ICs in Prader-Willi/Angelmann syndrome patients to isolate (protein) factors involved in mediating imprinting on chromosome 15. These findings - e.g. possible factors essential for the imprinting process - will be used to evaluate their significance for the BWS associated 11p15 region. These efforts should end up in the identification and characterization of DNA-elements and protein factors with general relevance for epigenetic regulatory mechanisms.

• DFG-Verfahren: Schwerpunktprogramme
• Teilprojekt zu: SPP 1129: Epigenetics
• Beteiligte Person: Professor Dr. Bernhard Zabel