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Updated: Aug 9, 2026

A Reverse Genetic Approach to Test Functional Redundancy During Embryogenesis
Published on: August 12, 2010
[Genes controlling ontogenesis: morphosis, phenocopies, dimorphs, and other visible expressions of mutant genes]
B F Chadov1, E V Chadova, S A Kopyl
1Institute of Cytology and Genetics, Russian Academy of Sciences, Novosibirsk, 630090 Russia. chadov@bionet.nsc.ru
Abstract:
We studied facultative dominant lethal mutations obtained earlier in Drosophila melanogaster. In some genotypes, these mutations were expressed as lethals, but in other genotypes they lacked this expression. The mutations were maintained in the following cultures: (1) females Muller-5 heterozygous for the mutation; (2) males crossed to attached-X females; and females and males homozygous for the mutation. During culturing, many mutations were found to give rise to phenotypically abnormal progeny. Generally, these abnormalities were morphoses involving various body parts; they were mostly asymmetric and non-heritable. Maternal and paternal effects in the formation of morphoses were observed. In four cases, dimorphic mutations were recorded: a female homozygous for the mutation had mutant phenotype whereas its male counterpart was phenotypically normal. The mutations were recessive with regard to the norm. New phenotypes behaving as mutations with incomplete penetrance arose during culturing. In cultures of mutant homozygotes phenocopies would appear en masse; they would persist for one or two generations and disappear. One wave of phenocopies succeeded another. Visible phenotypes appeared, which further behaved as ordinary recessive mutations. We concluded that these visible manifestations are characteristic for regulatory mutations controlling ontogeny. Their appearance is explained by the activation of new regulatory scenarios caused by blocking standard regulatory pathways.
Insights
Facultative dominant lethal mutations in Drosophila melanogaster can cause developmental abnormalities and new phenotypes. These changes suggest regulatory mutations controlling development by altering standard pathways.
Area of Science:
- Developmental genetics
- Mutation research
- Drosophila melanogaster research
Context:
- Facultative dominant lethal mutations exhibit variable expression depending on genotype.
- Studied mutations maintained in heterozygous and homozygous Drosophila melanogaster cultures.
- Observed phenotypic abnormalities, including morphoses and dimorphic mutations.
Purpose:
- Investigate the expression and heritability of facultative dominant lethal mutations.
- Characterize the developmental effects and phenotypic variability of these mutations.
- Determine the underlying genetic mechanisms, potentially involving regulatory pathways.
Summary:
- Facultative dominant lethal mutations in Drosophila melanogaster displayed variable lethality and induced non-heritable morphoses and dimorphic phenotypes.
- Phenocopies and new visible mutations with incomplete penetrance emerged during culturing, indicating dynamic genetic effects.
- These phenomena are attributed to regulatory mutations that alter developmental pathways by activating new scenarios.
Impact:
- Provides insights into the complex nature of gene regulation during development.
- Highlights the potential for mutations to disrupt normal ontogeny and create novel phenotypes.
- Suggests that regulatory mutations play a crucial role in evolutionary adaptation and phenotypic plasticity.
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