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Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
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Related Experiment Video

Updated: Nov 6, 2025

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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The gene: An appraisal.

Keith Baverstock1

  • 1Department of Environmental and Biological Sciences, University of Eastern Finland, Kuopio Campus, Kuopio, Finland.

Progress in Biophysics and Molecular Biology
|May 12, 2021
PubMed
Summary
This summary is machine-generated.

The gene is an ill-defined concept in biology. Phenotypes, not genes, are the active drivers of inheritance, evolution, and development, challenging traditional genetic principles.

Keywords:
Development and morphogenesisEvolutionGenotype-conceptionInheritanceLTEE and Power lawPhenotype as unit of inheritance

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Area of Science:

  • Genetics
  • Evolutionary Biology
  • Developmental Biology

Background:

  • The gene is a foundational concept in modern biology but remains ill-defined.
  • Wilhelm Johannsen's genotype-conception has been widely adopted, potentially overstating the gene's role.

Purpose of the Study:

  • To critically analyze the gene's role in inheritance, evolution, development, and morphogenesis.
  • To propose an alternative framework for biological foundations based on thermodynamics and complex systems.

Main Methods:

  • Historical analysis of the gene concept.
  • Critical review of evidence, including the Long-Term Evolution Experiment (LTEE) with E. coli.
  • Theoretical analysis based on thermodynamics, complex system dynamics, and self-organization.

Main Results:

  • Evidence from the LTEE does not support spontaneous gene mutation as the primary source of variation for natural selection.
  • The gene is not Mendel's unit of inheritance; Johannsen's transmission-conception at the gamete phenotype level is a more accurate model.
  • A new framework viewing biology through thermodynamics and complex systems suggests a passive role for genes as information stores.

Conclusions:

  • The phenotype, not the gene, actively drives inheritance, evolution, development, and morphogenesis.
  • Rethinking the gene's foundational role is necessary, with a shift towards phenotype-centric biological principles.
  • Thermodynamics and complex system dynamics offer a robust framework for understanding biological processes.