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Combinatorial Effects of Transposable Elements on Gene Expression and Phenotypic Robustness in Drosophila melanogaster Development

Embryonic patterning displays remarkable consistency from individual to individual despite frequent environmental perturbations and diverse genetic contexts. Stochastic influences on the cellular environment may cause transcription rates to fluctuate, but these fluctuations rarely lead to developmen...

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Autores principales: Clemmons, Alexa W., Wasserman, Steven A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Genetics Society of America 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755913/
https://www.ncbi.nlm.nih.gov/pubmed/23833214
http://dx.doi.org/10.1534/g3.113.006791
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author Clemmons, Alexa W.
Wasserman, Steven A.
author_facet Clemmons, Alexa W.
Wasserman, Steven A.
author_sort Clemmons, Alexa W.
collection PubMed
description Embryonic patterning displays remarkable consistency from individual to individual despite frequent environmental perturbations and diverse genetic contexts. Stochastic influences on the cellular environment may cause transcription rates to fluctuate, but these fluctuations rarely lead to developmental defects or disease. Here we characterize a set of recessive alleles of the Toll pathway component tube that destabilize embryonic dorsoventral patterning in Drosophila melanogaster. Females bearing these tube alleles generate embryos of an unusually wide range of dorsalized phenotypes, with the distributions across this range being unique for each allele. We determine that the mutant lines have in common a retrotransposon insertion upstream of the tube transcription start site. Genetic and molecular approaches demonstrate that this insertion dramatically reduces maternal expression of tube, thereby uncovering the inherent variability in gene expression. We further find that additional transposable element insertions near the tube gene synergistically enhance the phenotype caused by the sensitizing upstream insertion. These studies document how phenotypic variability can arise from normally occurring fluctuations around reduced mean expression and illustrate the contribution of transposons, individually and combinatorially, to such a state.
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spelling pubmed-37559132013-09-01 Combinatorial Effects of Transposable Elements on Gene Expression and Phenotypic Robustness in Drosophila melanogaster Development Clemmons, Alexa W. Wasserman, Steven A. G3 (Bethesda) Investigations Embryonic patterning displays remarkable consistency from individual to individual despite frequent environmental perturbations and diverse genetic contexts. Stochastic influences on the cellular environment may cause transcription rates to fluctuate, but these fluctuations rarely lead to developmental defects or disease. Here we characterize a set of recessive alleles of the Toll pathway component tube that destabilize embryonic dorsoventral patterning in Drosophila melanogaster. Females bearing these tube alleles generate embryos of an unusually wide range of dorsalized phenotypes, with the distributions across this range being unique for each allele. We determine that the mutant lines have in common a retrotransposon insertion upstream of the tube transcription start site. Genetic and molecular approaches demonstrate that this insertion dramatically reduces maternal expression of tube, thereby uncovering the inherent variability in gene expression. We further find that additional transposable element insertions near the tube gene synergistically enhance the phenotype caused by the sensitizing upstream insertion. These studies document how phenotypic variability can arise from normally occurring fluctuations around reduced mean expression and illustrate the contribution of transposons, individually and combinatorially, to such a state. Genetics Society of America 2013-09-01 /pmc/articles/PMC3755913/ /pubmed/23833214 http://dx.doi.org/10.1534/g3.113.006791 Text en Copyright © 2013 Clemmons and Wasserman http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Unported License (http://creativecommons.org/licenses/by/3.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Investigations
Clemmons, Alexa W.
Wasserman, Steven A.
Combinatorial Effects of Transposable Elements on Gene Expression and Phenotypic Robustness in Drosophila melanogaster Development
title Combinatorial Effects of Transposable Elements on Gene Expression and Phenotypic Robustness in Drosophila melanogaster Development
title_full Combinatorial Effects of Transposable Elements on Gene Expression and Phenotypic Robustness in Drosophila melanogaster Development
title_fullStr Combinatorial Effects of Transposable Elements on Gene Expression and Phenotypic Robustness in Drosophila melanogaster Development
title_full_unstemmed Combinatorial Effects of Transposable Elements on Gene Expression and Phenotypic Robustness in Drosophila melanogaster Development
title_short Combinatorial Effects of Transposable Elements on Gene Expression and Phenotypic Robustness in Drosophila melanogaster Development
title_sort combinatorial effects of transposable elements on gene expression and phenotypic robustness in drosophila melanogaster development
topic Investigations
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755913/
https://www.ncbi.nlm.nih.gov/pubmed/23833214
http://dx.doi.org/10.1534/g3.113.006791
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