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Related Concept Videos

Heritability01:06

Heritability

Heritability is a statistical concept that measures the degree to which genetic differences among individuals contribute to trait variations within a population. It is a fundamental idea in genetics, often prone to misinterpretation. Heritability is expressed as a percentage, reflecting the proportion of variation in a specific trait across a population that can be linked to genetic differences. However, it's important to understand that heritability does not determine how "genetic" a trait is,...
Pleiotropy01:33

Pleiotropy

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,...
Incomplete Dominance01:43

Incomplete Dominance

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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Multiple Allele Traits

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Mechanistic Models: Compartment Models in Individual and Population Analysis

Mechanistic models are utilized in individual analysis using single-source data, but imperfections arise due to data collection errors, preventing perfect prediction of observed data. The mathematical equation involves known values (Xi), observed concentrations (Ci), measurement errors (εi), model parameters (ϕj), and the related function (ƒi) for i number of values. Different least-squares metrics quantify differences between predicted and observed values. The ordinary least squares (OLS)...

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Lessons from model organisms: phenotypic robustness and missing heritability in complex disease.

Christine Queitsch1, Keisha D Carlson, Santhosh Girirajan

  • 1Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America. queitsch@u.washington.edu

Plos Genetics
|November 21, 2012
PubMed
Summary

Phenotypic robustness, a trait differing among individuals, may explain missing heritability in complex human diseases. Lower robustness increases susceptibility to genetic and environmental factors, impacting disease risk.

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Area of Science:

  • Genetics
  • Human Biology
  • Disease Mechanisms

Background:

  • Model organisms provide insights into biological processes and disease mutations.
  • Identifying genetic determinants for complex human diseases like diabetes and cancer remains challenging, contributing to the 'missing heritability' phenomenon.
  • Genome-wide association studies (GWAS) have identified numerous variants, but they explain only a small fraction of heritability.

Purpose of the Study:

  • To propose phenotypic robustness as an alternative explanation for missing heritability in complex human diseases.
  • To investigate the role of differing phenotypic robustness in human disease susceptibility.
  • To suggest methods for measuring robustness in human populations and adapting GWAS designs.

Main Methods:

  • Drawing parallels from studies on complex traits in model organisms.
  • Proposing feasible approaches to measure phenotypic robustness in large human populations.
  • Designing proof-of-principle experiments for robustness markers in model organisms.
  • Developing a novel GWAS design incorporating individual robustness differences.

Main Results:

  • In model organisms, decreased phenotypic robustness correlates with increased mutation penetrance and expression of cryptic genetic variation.
  • The study posits that similar variations in phenotypic robustness exist in humans.
  • Individuals with lower robustness are hypothesized to be more susceptible to environmental and genetic perturbations, leading to disease.

Conclusions:

  • Phenotypic robustness is a quantitative trait that influences disease susceptibility.
  • Measuring robustness in humans could significantly advance our understanding of complex diseases and the 'missing heritability' problem.
  • Integrating robustness into GWAS can provide a more comprehensive view of genetic determinants for complex diseases.