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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.
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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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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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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Visual and Microscopic Evaluation of Streptomyces Developmental Mutants
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Using the phenoscape knowledgebase to relate genetic perturbations to phenotypic evolution.

Prashanti Manda1,2, James P Balhoff1,2, Hilmar Lapp2,3

  • 1Department of Biology, University of North Carolina, Chapel Hill, North Carolina.

Genesis (New York, N.Y. : 2000)
|July 30, 2015
PubMed
Summary

The Phenoscape Knowledgebase (KB) links genetic variation in model organisms to natural phenotypic diversity across species. This tool aids in understanding evolutionary phenotypes by comparing gene-based traits with species-wide variations.

Keywords:
candidate genesphenotypic variationsemantic similarity

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Area of Science:

  • Developmental Biology
  • Evolutionary Biology
  • Genetics

Background:

  • Model organisms offer limited insights into the full spectrum of phenotypic diversity.
  • Understanding natural phenotypic variation is crucial for advancing developmental and genetic research.
  • The Phenoscape Knowledgebase (KB) was developed to explore and discover phenotypic variations across species.

Purpose of the Study:

  • To demonstrate the utility of the Phenoscape KB in identifying evolutionary phenotypes.
  • To enable comparisons between phenotypes from genetic perturbations in model organisms and evolutionary phenotypes.
  • To facilitate the discovery of taxa exhibiting evolutionary variation similar to query genes.

Main Methods:

  • Phenotypes in the KB are annotated using standardized ontologies for consistent comparison.
  • An evolutionary profile, defined as variable phenotypes among daughter taxa, was created for each node in the taxonomic tree.
  • Semantic similarity searches were performed to match gene-based phenotypes with evolutionary profiles, assessing statistical significance.

Main Results:

  • The KB successfully identified taxa with evolutionary phenotypes mirroring those of query genes.
  • The semantic similarity interface allows users to evaluate the statistical significance of matches.
  • The system flags potential matches arising from differential annotation coverage between genetic and evolutionary studies.

Conclusions:

  • The Phenoscape KB is a valuable tool for bridging genetic knowledge from model organisms with natural phenotypic diversity.
  • This approach enhances our understanding of evolutionary phenotypes and their genetic underpinnings.
  • The KB supports the challenge of integrating vast genetic data with the complexity of phenotypes observed in nature.