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Identifier

000376425

Title

The role of nucleotide excision repair (NER) factors in genomic impriting

Alternative Title

Ο ρόλος του μονοπατιού εκτομής νουκλεοτιδίων (NER) στη γονοδιακή αποτύπωση.

Author

Αποστόλου, Ζίβκος

Thesis advisor

Γαρίνης, Γεώργιος

Abstract

The genome is constantly challenged by endogenous and exogenous DNA damaging factors. To meet this challenge, cells have evolved a plethora of mechanisms that counteract the damaging threat. The nucleotide excision repair (NER) pathway is responsible for removing primarily bulky helix-distorting damage, such as the UV-induced lesions. Defects in members of the NER pathway are associated with developmental abnormalities, besides cancer and ageing. Recent work demonstrates the function of several NER factors in processes beside DNA repair. In this study, we focus on the ERCC1 protein which binds the XPF endonuclease creating a heterodimer in the NER pathway, responsible for the 5’ incision of the damaged strand. The fact that ERCC1-XPF is involved in DNA demethylation and Ercc1^-/- mice exhibit developmental defects prompted us to examine the effects of ERCC1 in genomic imprinting. As it is well known, the molecular mechanism that is responsible for appropriate expression of the imprinted genes, which are essential for proper development of an organism, is governed by DNA methylation marks.

Language

Greek, English

Issue date

2012-11-16

Collection

School/Department--School of Sciences and Engineering--Department of Biology--Post-graduate theses

Type of Work--Post-graduate theses

Views

243

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