Genetics: The Concept of Epistasis

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Introduction

The idea that genes are individual units that perform unique functions is a misconception. In fact, genes interact with each other. Epistasis is a phenomenon based on the concept of gene interaction whereby, the effect of a specific gene on the phenotype of an individual is either masked or reinforced by one or more different genes (Natural Standard, 2013). It is important to underline that epistasis involves the interaction between different genes and that the result of this interaction is related to the susceptibility to various human diseases (Nagel 2005). An example of such human disease is the Alzheimer’s Disease (AD), a severe disease causing brain degeneration, strongly affecting memory. Recently, the focus on the study of epistasis has been enhanced as it has been acknowledged that the study of gene interaction is crucial for further understanding complex diseases.

The concept of Epistasis
There are two major definitions aiming to explain the concept of epistasis: William Batesons’ definition (1909) of compositional epistasis and Ronald Fisher’s Statistical definition (1918) of statistical epistasis (Cordell 2002). Bateson’s definition describes the distortion of Mendel’s segregation ratios as a result of one gene masking the effects of another. On the other hand, Fisher viewed epistasis as the statistical deviation from the additive combinations of the position of two or more different genes on a chromosome from their effect on a quantitative phenotype (Philips 2008). Fisher’s definition is more relevant to the idea of statistical interaction as opposed to Bateson’s definition that is mostly biological. The two different definitions give rise to questioning whether biological findings ensure that statistic...

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...n H. (2005). A global view of epistasis. Nature Genetics. 37 (1), p13-14
9. Nagel,R. (2005). Epistasis And The Genetics Of Human Diseases. Comptes Rendus Biologies. 328.7 (1), p606-615.
10. Philips, Patrick C. (2008). Epistasis — the essential role of gene interactions in the structure and evolution of genetic systems. Nature Reviews Genetics . 9 (11), p855-867.

Websites

1. Natural Standard. (2013). Epistasis. Available: http://www.naturalstandard.com/databases/genomics/all/genomic-epistasis.asp. Last accessed 25th Feb 2014.
2. National Institute of Health. (2011). Alzheimer's Disease Genetics. Available: http://www.nia.nih.gov/sites/default/files/alzheimers_disease_genetics_fact_sheet_1.pdf. Last accessed 27th Feb 2014.
3. Alzheimer Disease Overview - GeneReviews™ - NCBI Bookshelf.Available: http://www.ncbi.nlm.nih.gov/books/NBK1161/. Last accessed 27 Feb 2014.

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