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Related Concept Videos

Epistasis Analysis01:09

Epistasis Analysis

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Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
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Epistasis01:39

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In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Epistasis and quantitative traits: using model organisms to study gene-gene interactions.

Trudy F C Mackay1

  • 1Department of Biological Sciences, Campus Box 7614, North Carolina State University, Raleigh, North Carolina 27695-7614, USA.

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Summary

Epistasis, or gene interactions, is common in quantitative traits. Additive genetic effects can emerge from complex gene networks, explaining hidden variation and challenges in human complex trait genetics.

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Area of Science:

  • Genetics
  • Quantitative Genetics
  • Systems Biology

Background:

  • The role of epistasis in the genetic architecture of quantitative traits remains controversial.
  • Most genetic variation for quantitative traits appears additive, leading to skepticism about epistasis.
  • However, additive variance is compatible with widespread epistasis.

Purpose of the Study:

  • To review experimental designs for detecting epistasis in model organisms.
  • To discuss the implications of epistasis for understanding quantitative trait phenotypes.
  • To explore the connection between epistasis and challenges in human complex trait genetics.

Main Methods:

  • Review of experimental designs to detect epistasis in model organisms.
  • Analysis of genetic interaction networks.
  • Discussion of theoretical consistency between epistasis and additive variance.

Main Results:

  • Epistasis is a common feature in quantitative trait genetics.
  • Additivity can be an emergent property of underlying genetic interaction networks.
  • Epistasis contributes to hidden genetic variation in natural populations.

Conclusions:

  • Epistasis plays a significant, often underestimated, role in the genetic architecture of quantitative traits.
  • Understanding epistasis is crucial for resolving issues like missing heritability and lack of replication in human complex traits.
  • Future research should focus on experimental designs that can robustly detect gene-gene interactions.