Drosophila Toxicogenomics: genetic variation and sexual dimorphism in susceptibility to 4-Methylimidazole

Abstract Background 4-methylimidazole is a ubiquitous and potentially carcinogenic environmental toxicant. Genetic factors that contribute to variation in susceptibility to its toxic effects are challenging to assess in human populations. We used the Drosophila melanogaster Genetic Reference Panel (...

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Main Authors: Katelynne M. Collins, Elisabeth Howansky, Sarah C. Macon-Foley, Maria E. Adonay, Vijay Shankar, Richard F. Lyman, Nestor Octavio Nazario-Yepiz, Jordyn K. Brooks, Rachel A. Lyman, Trudy F. C. Mackay, Robert R. H. Anholt
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Language:English
Published: BMC 2024-11-01
Series:Human Genomics
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Online Access:https://doi.org/10.1186/s40246-024-00689-3
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author Katelynne M. Collins
Elisabeth Howansky
Sarah C. Macon-Foley
Maria E. Adonay
Vijay Shankar
Richard F. Lyman
Nestor Octavio Nazario-Yepiz
Jordyn K. Brooks
Rachel A. Lyman
Trudy F. C. Mackay
Robert R. H. Anholt
author_facet Katelynne M. Collins
Elisabeth Howansky
Sarah C. Macon-Foley
Maria E. Adonay
Vijay Shankar
Richard F. Lyman
Nestor Octavio Nazario-Yepiz
Jordyn K. Brooks
Rachel A. Lyman
Trudy F. C. Mackay
Robert R. H. Anholt
author_sort Katelynne M. Collins
collection DOAJ
description Abstract Background 4-methylimidazole is a ubiquitous and potentially carcinogenic environmental toxicant. Genetic factors that contribute to variation in susceptibility to its toxic effects are challenging to assess in human populations. We used the Drosophila melanogaster Genetic Reference Panel (DGRP), a living library of natural genetic variation, to identify genes with human orthologs associated with variation in susceptibility to 4-methylimidazole. Results We screened 204 DGRP lines for survival following 24-hour exposure to 4-methylimidazole. We found extensive genetic variation for survival, with a broad sense heritability of 0.82; as well as genetic variation in sexual dimorphism, with a cross-sex genetic correlation of 0.59. Genome-wide association analyses identified a total of 241 candidate molecular polymorphisms in or near 273 unique genes associated with survival. These polymorphisms had either sex-specific or sex-antagonistic effects, and most had putative regulatory effects. We generated interaction networks using these candidate genes as inputs and computationally recruited genes with known physical or genetic interactions. The network genes were significantly over-represented for gene ontology terms involving all aspects of development (including nervous system development) and cellular and organismal functions as well as canonical signaling pathways, and most had human orthologs. Conclusions The genetic basis of variation in sensitivity to acute exposure to 4-methylimidazole in Drosophila is attributable to variation in genes and networks of genes known for their effects on multiple developmental and cellular processes, including possible neurotoxicity. Given evolutionary conservation of the underlying genes and pathways, these insights may be applicable to humans.
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spelling doaj-art-e59933fe43b04c80965ccab72c2b6d572025-08-20T02:49:59ZengBMCHuman Genomics1479-73642024-11-0118111410.1186/s40246-024-00689-3Drosophila Toxicogenomics: genetic variation and sexual dimorphism in susceptibility to 4-MethylimidazoleKatelynne M. Collins0Elisabeth Howansky1Sarah C. Macon-Foley2Maria E. Adonay3Vijay Shankar4Richard F. Lyman5Nestor Octavio Nazario-Yepiz6Jordyn K. Brooks7Rachel A. Lyman8Trudy F. C. Mackay9Robert R. H. Anholt10Center for Human Genetics, Department of Genetics and Biochemistry, Clemson UniversityCenter for Human Genetics, Department of Genetics and Biochemistry, Clemson UniversityCenter for Human Genetics, Department of Genetics and Biochemistry, Clemson UniversityCenter for Human Genetics, Department of Genetics and Biochemistry, Clemson UniversityCenter for Human Genetics, Department of Genetics and Biochemistry, Clemson UniversityCenter for Human Genetics, Department of Genetics and Biochemistry, Clemson UniversityCenter for Human Genetics, Department of Genetics and Biochemistry, Clemson UniversityCenter for Human Genetics, Department of Genetics and Biochemistry, Clemson UniversityCenter for Human Genetics, Department of Genetics and Biochemistry, Clemson UniversityCenter for Human Genetics, Department of Genetics and Biochemistry, Clemson UniversityCenter for Human Genetics, Department of Genetics and Biochemistry, Clemson UniversityAbstract Background 4-methylimidazole is a ubiquitous and potentially carcinogenic environmental toxicant. Genetic factors that contribute to variation in susceptibility to its toxic effects are challenging to assess in human populations. We used the Drosophila melanogaster Genetic Reference Panel (DGRP), a living library of natural genetic variation, to identify genes with human orthologs associated with variation in susceptibility to 4-methylimidazole. Results We screened 204 DGRP lines for survival following 24-hour exposure to 4-methylimidazole. We found extensive genetic variation for survival, with a broad sense heritability of 0.82; as well as genetic variation in sexual dimorphism, with a cross-sex genetic correlation of 0.59. Genome-wide association analyses identified a total of 241 candidate molecular polymorphisms in or near 273 unique genes associated with survival. These polymorphisms had either sex-specific or sex-antagonistic effects, and most had putative regulatory effects. We generated interaction networks using these candidate genes as inputs and computationally recruited genes with known physical or genetic interactions. The network genes were significantly over-represented for gene ontology terms involving all aspects of development (including nervous system development) and cellular and organismal functions as well as canonical signaling pathways, and most had human orthologs. Conclusions The genetic basis of variation in sensitivity to acute exposure to 4-methylimidazole in Drosophila is attributable to variation in genes and networks of genes known for their effects on multiple developmental and cellular processes, including possible neurotoxicity. Given evolutionary conservation of the underlying genes and pathways, these insights may be applicable to humans.https://doi.org/10.1186/s40246-024-00689-3Quantitative geneticsgenome wide association analysesDrosophila Genetic Reference Panelsex-specific effectssexually antagonistic effectsnetwork associations with complex traits
spellingShingle Katelynne M. Collins
Elisabeth Howansky
Sarah C. Macon-Foley
Maria E. Adonay
Vijay Shankar
Richard F. Lyman
Nestor Octavio Nazario-Yepiz
Jordyn K. Brooks
Rachel A. Lyman
Trudy F. C. Mackay
Robert R. H. Anholt
Drosophila Toxicogenomics: genetic variation and sexual dimorphism in susceptibility to 4-Methylimidazole
Human Genomics
Quantitative genetics
genome wide association analyses
Drosophila Genetic Reference Panel
sex-specific effects
sexually antagonistic effects
network associations with complex traits
title Drosophila Toxicogenomics: genetic variation and sexual dimorphism in susceptibility to 4-Methylimidazole
title_full Drosophila Toxicogenomics: genetic variation and sexual dimorphism in susceptibility to 4-Methylimidazole
title_fullStr Drosophila Toxicogenomics: genetic variation and sexual dimorphism in susceptibility to 4-Methylimidazole
title_full_unstemmed Drosophila Toxicogenomics: genetic variation and sexual dimorphism in susceptibility to 4-Methylimidazole
title_short Drosophila Toxicogenomics: genetic variation and sexual dimorphism in susceptibility to 4-Methylimidazole
title_sort drosophila toxicogenomics genetic variation and sexual dimorphism in susceptibility to 4 methylimidazole
topic Quantitative genetics
genome wide association analyses
Drosophila Genetic Reference Panel
sex-specific effects
sexually antagonistic effects
network associations with complex traits
url https://doi.org/10.1186/s40246-024-00689-3
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