Conference paper

HUMAN GENOME VARIATION IN HEALTH AND IN NEUROPSYCHIATRIC DISORDERS

Alena Buretić-Tomljanović ; Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Croatia
Draško Tomljanović ; Private psychiatric practice, Rijeka, Croatia

Abstract

Objectives: Variation in the human genome may explain genetic contributions to complex traits and common diseases.
Findings: Until recently, single nucleotide polymorphisms were thought to be the most prevalent form of interindividual genetic variation. However, structural genomic rearrangements such as deletions, duplications, and inversions lead to variation in gene copy number and contribute even more to genomic diversity. Other
sources of genomic variation include noncoding genes, pseudogenes, and mobile genetic elements (transposons).
Conclusions: Genome dynamics, including changes in gene number and position as well as epigenetic modifications of coding and noncoding sequences, can affect regulation of gene expression and may contribute to the variability of complex phenotypes.

Keywords

human genome variation; single nucleotide polymorphisms; copy number variation; noncoding genes; pseudogenes; transposable elements; neuropsychiatric disorders

Hrčak ID:

49630

URI

https://hrcak.srce.hr/49630

Publication date:

25.8.2009.

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