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Developmental processes regulate craniofacial variation in disease and evolution.

Fjodor Merkuri1, Jennifer L Fish1

  • 1Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts.

Genesis (New York, N.Y. : 2000)
|September 13, 2018
PubMed
Summary
This summary is machine-generated.

Developmental variation influences evolution and disease phenotypes. Understanding genetic background, gene-environment interactions, and stochasticity offers insights into shared disease pathways and potential treatments.

Keywords:
craniofacial anomaliesevolution of developmentgenotype-phenotype relationshipsmorphological variationribosomopathiesspliceosomopathies

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Area of Science:

  • Developmental biology
  • Evolutionary biology
  • Genetics

Background:

  • Phenotypic variation is crucial in evolution and disease.
  • Mechanisms driving phenotypic variation are largely unknown.
  • Developmental processes are key regulators of genotype-phenotype relationships.

Purpose of the Study:

  • To review mechanisms contributing to variation in developmental processes.
  • To explore how shared developmental processes explain phenotype convergence in diseases.
  • To discuss implications for disease treatment and evolution.

Main Methods:

  • Literature review focusing on developmental variation.
  • Analysis of shared developmental pathways in spliceosomopathies and ribosomopathies.
  • Discussion of genetic background, gene-environment interactions, and developmental stochasticity.

Main Results:

  • Shared and interacting developmental processes can explain phenotype convergence.
  • Convergence observed in spliceosomopathies and ribosomopathies suggests a common therapeutic target.
  • Genetic background, gene-environment interactions, and stochasticity are major drivers of developmental variation.

Conclusions:

  • Developmental variation is a fundamental mediator of phenotypic differences.
  • Understanding developmental mechanisms can reveal shared disease pathways.
  • Evolutionary alterations and buffering mechanisms in development are critical areas for future research.