Transcriptional regulatory networks underlying gene expression changes in Huntington's disease

Abstract Transcriptional changes occur presymptomatically and throughout Huntington's disease (HD), motivating the study of transcriptional regulatory networks (TRNs) in HD. We reconstructed a genome‐scale model for the target genes of 718 transcription factors (TFs) in the mouse striatum by in...

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Main Authors: Seth A Ament, Jocelynn R Pearl, Jeffrey P Cantle, Robert M Bragg, Peter J Skene, Sydney R Coffey, Dani E Bergey, Vanessa C Wheeler, Marcy E MacDonald, Nitin S Baliga, Jim Rosinski, Leroy E Hood, Jeffrey B Carroll, Nathan D Price
Format: Article
Language:English
Published: Springer Nature 2018-03-01
Series:Molecular Systems Biology
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Online Access:https://doi.org/10.15252/msb.20167435
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author Seth A Ament
Jocelynn R Pearl
Jeffrey P Cantle
Robert M Bragg
Peter J Skene
Sydney R Coffey
Dani E Bergey
Vanessa C Wheeler
Marcy E MacDonald
Nitin S Baliga
Jim Rosinski
Leroy E Hood
Jeffrey B Carroll
Nathan D Price
author_facet Seth A Ament
Jocelynn R Pearl
Jeffrey P Cantle
Robert M Bragg
Peter J Skene
Sydney R Coffey
Dani E Bergey
Vanessa C Wheeler
Marcy E MacDonald
Nitin S Baliga
Jim Rosinski
Leroy E Hood
Jeffrey B Carroll
Nathan D Price
author_sort Seth A Ament
collection DOAJ
description Abstract Transcriptional changes occur presymptomatically and throughout Huntington's disease (HD), motivating the study of transcriptional regulatory networks (TRNs) in HD. We reconstructed a genome‐scale model for the target genes of 718 transcription factors (TFs) in the mouse striatum by integrating a model of genomic binding sites with transcriptome profiling of striatal tissue from HD mouse models. We identified 48 differentially expressed TF‐target gene modules associated with age‐ and CAG repeat length‐dependent gene expression changes in Htt CAG knock‐in mouse striatum and replicated many of these associations in independent transcriptomic and proteomic datasets. Thirteen of 48 of these predicted TF‐target gene modules were also differentially expressed in striatal tissue from human disease. We experimentally validated a specific model prediction that SMAD3 regulates HD‐related gene expression changes using chromatin immunoprecipitation and deep sequencing (ChIP‐seq) of mouse striatum. We found CAG repeat length‐dependent changes in the genomic occupancy of SMAD3 and confirmed our model's prediction that many SMAD3 target genes are downregulated early in HD.
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spelling doaj-art-37a0a3de07ca4d86ab89638ff4d313a82025-08-20T03:46:32ZengSpringer NatureMolecular Systems Biology1744-42922018-03-0114311610.15252/msb.20167435Transcriptional regulatory networks underlying gene expression changes in Huntington's diseaseSeth A Ament0Jocelynn R Pearl1Jeffrey P Cantle2Robert M Bragg3Peter J Skene4Sydney R Coffey5Dani E Bergey6Vanessa C Wheeler7Marcy E MacDonald8Nitin S Baliga9Jim Rosinski10Leroy E Hood11Jeffrey B Carroll12Nathan D Price13Institute for Systems BiologyInstitute for Systems BiologyBehavioral Neuroscience Program, Department of Psychology, Western Washington UniversityBehavioral Neuroscience Program, Department of Psychology, Western Washington UniversityBasic Sciences Division, Fred Hutchinson Cancer Research CenterBehavioral Neuroscience Program, Department of Psychology, Western Washington UniversityInstitute for Systems BiologyMolecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Harvard Medical SchoolMolecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Harvard Medical SchoolInstitute for Systems BiologyCHDI Management, CHDI FoundationInstitute for Systems BiologyBehavioral Neuroscience Program, Department of Psychology, Western Washington UniversityInstitute for Systems BiologyAbstract Transcriptional changes occur presymptomatically and throughout Huntington's disease (HD), motivating the study of transcriptional regulatory networks (TRNs) in HD. We reconstructed a genome‐scale model for the target genes of 718 transcription factors (TFs) in the mouse striatum by integrating a model of genomic binding sites with transcriptome profiling of striatal tissue from HD mouse models. We identified 48 differentially expressed TF‐target gene modules associated with age‐ and CAG repeat length‐dependent gene expression changes in Htt CAG knock‐in mouse striatum and replicated many of these associations in independent transcriptomic and proteomic datasets. Thirteen of 48 of these predicted TF‐target gene modules were also differentially expressed in striatal tissue from human disease. We experimentally validated a specific model prediction that SMAD3 regulates HD‐related gene expression changes using chromatin immunoprecipitation and deep sequencing (ChIP‐seq) of mouse striatum. We found CAG repeat length‐dependent changes in the genomic occupancy of SMAD3 and confirmed our model's prediction that many SMAD3 target genes are downregulated early in HD.https://doi.org/10.15252/msb.20167435Huntington's diseaseSMAD3transcription factortranscriptional regulatory networks
spellingShingle Seth A Ament
Jocelynn R Pearl
Jeffrey P Cantle
Robert M Bragg
Peter J Skene
Sydney R Coffey
Dani E Bergey
Vanessa C Wheeler
Marcy E MacDonald
Nitin S Baliga
Jim Rosinski
Leroy E Hood
Jeffrey B Carroll
Nathan D Price
Transcriptional regulatory networks underlying gene expression changes in Huntington's disease
Molecular Systems Biology
Huntington's disease
SMAD3
transcription factor
transcriptional regulatory networks
title Transcriptional regulatory networks underlying gene expression changes in Huntington's disease
title_full Transcriptional regulatory networks underlying gene expression changes in Huntington's disease
title_fullStr Transcriptional regulatory networks underlying gene expression changes in Huntington's disease
title_full_unstemmed Transcriptional regulatory networks underlying gene expression changes in Huntington's disease
title_short Transcriptional regulatory networks underlying gene expression changes in Huntington's disease
title_sort transcriptional regulatory networks underlying gene expression changes in huntington s disease
topic Huntington's disease
SMAD3
transcription factor
transcriptional regulatory networks
url https://doi.org/10.15252/msb.20167435
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