Epigenetics and disease

Pehar, Sanja (2012) Epigenetics and disease. Bachelor's thesis, Faculty of Science > Department of Biology.

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Abstract

Epigenetics is the study of heritable changes in gene expression or cellular phenotype caused by mechanisms other than changes in the underlying DNA sequence. It refers to functionally relevant modifications to the genome that do not involve a change in the nucleotide sequence. Examples of such changes are DNA methylation and histone modification, both of which serve to regulate gene expression without altering the underlying DNA sequence. Although histone modifications occur throughout the entire sequence, the unstructured N-termini of histones (called histone tails) are particularly highly modified. These modifications include acetylation, methylation, ubiquitylation, phosphorylation. Epigenetics has many and varied potential medical applications as it tends to be multidimensional in nature. Congenital genetic disease is well understood, and it is also clear that epigenetics can play a role, for example, in the case of Angelman syndrome and Prader-Willi syndrome. These are normal genetic diseases caused by gene deletions or inactivation of the genes, but are unusually common because individuals are essentially hemizygous because of genomic imprinting, and therefore a single gene knock out is sufficient to cause the disease, where most cases would require both copies to be knocked out. The field of disease epigenetics has seen explosive growth in recent years. However, this excitement should be tempered by the fact that we lack fundamental understanding of how the majority of epigenetic marks function in the eukaryotic genome.

Item Type: Thesis (Bachelor's thesis)
Supervisor: Besendorfer, Višnja
Date: 2012
Number of Pages: 14
Subjects: NATURAL SCIENCES > Biology
Divisions: Faculty of Science > Department of Biology
Depositing User: Silvana Šehić
Date Deposited: 23 Oct 2014 12:58
Last Modified: 23 Oct 2014 12:58
URI: http://digre.pmf.unizg.hr/id/eprint/3157

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