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Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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Related Experiment Video

Updated: Aug 28, 2025

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Variable paralog expression underlies phenotype variation.

Raisa Bailon-Zambrano¹, Juliana Sucharov¹, Abigail Mumme-Monheit¹

¹Department of Craniofacial Biology, University of Colorado Anschutz Medical Campus, Aurora, United States.

|September 22, 2022

Summary

This summary is machine-generated.

Zebrafish studies reveal how gene paralog expression variation can buffer craniofacial development, explaining how some individuals overcome genetic mutations. This research offers insights into heritable variation and phenotypic resilience.

Keywords:

compensation craniofacial development developmental biology developmental buffering gene duplication genetics genomics paralogs robustness subfunctionalization variability vestigial expression zebrafish

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Last Updated: Aug 28, 2025

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Area of Science:

Developmental Biology
Genetics
Zebrafish Models

Background:

Human facial variation is significant, and craniofacial disorders exacerbate this diversity.
Understanding the mechanisms that buffer genetic mutations is crucial for comprehending phenotypic variation.

Purpose of the Study:

To investigate the genetic and molecular basis of craniofacial variation in zebrafish mutants.
To explore how paralog gene expression influences the severity and variability of craniofacial phenotypes.

Main Methods:

Comparative gene expression analysis between selectively bred zebrafish strains (low and high penetrance of mef2ca mutation).
Mutagenesis of mef2ca paralogs (mef2aa, mef2b, mef2cb, mef2d) to assess their buffering capacity.
Development of a mechanistic model for phenotypic variation based on paralog expression.

Main Results:

Selective breeding enriched for differential expression of mef2ca paralogs in strains with varying mutation penetrance.
Heritable variation in mef2ca paralog expression correlates with craniofacial phenotype severity and variability.
Specific mef2ca paralogs were identified as having modular roles in buffering either the severity or the variability of the mutant phenotype.

Conclusions:

Variable, vestigial paralog expression serves as a novel mechanism for buffering developmental processes and phenotypic variation.
This study provides a mechanistic model for how genetic resilience to deleterious mutations can arise.
Findings advance the understanding of craniofacial development, variation, and the genetic basis of resilience.