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The UCSC repeat browser allows discovery and visualization of evolutionary conflict across repeat families

BACKGROUND: Nearly half the human genome consists of repeat elements, most of which are retrotransposons, and many of which play important biological roles. However repeat elements pose several unique challenges to current bioinformatic analyses and visualization tools, as short repeat sequences can...

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Autores principales: Fernandes, Jason D., Zamudio-Hurtado, Armando, Clawson, Hiram, Kent, W. James, Haussler, David, Salama, Sofie R., Haeussler, Maximilian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7110667/
https://www.ncbi.nlm.nih.gov/pubmed/32266012
http://dx.doi.org/10.1186/s13100-020-00208-w
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author Fernandes, Jason D.
Zamudio-Hurtado, Armando
Clawson, Hiram
Kent, W. James
Haussler, David
Salama, Sofie R.
Haeussler, Maximilian
author_facet Fernandes, Jason D.
Zamudio-Hurtado, Armando
Clawson, Hiram
Kent, W. James
Haussler, David
Salama, Sofie R.
Haeussler, Maximilian
author_sort Fernandes, Jason D.
collection PubMed
description BACKGROUND: Nearly half the human genome consists of repeat elements, most of which are retrotransposons, and many of which play important biological roles. However repeat elements pose several unique challenges to current bioinformatic analyses and visualization tools, as short repeat sequences can map to multiple genomic loci resulting in their misclassification and misinterpretation. In fact, sequence data mapping to repeat elements are often discarded from analysis pipelines. Therefore, there is a continued need for standardized tools and techniques to interpret genomic data of repeats. RESULTS: We present the UCSC Repeat Browser, which consists of a complete set of human repeat reference sequences derived from annotations made by the commonly used program RepeatMasker. The UCSC Repeat Browser also provides an alignment from the human genome to these references, uses it to map the standard human genome annotation tracks, and presents all of them as a comprehensive interface to facilitate work with repetitive elements. It also provides processed tracks of multiple publicly available datasets of particular interest to the repeat community, including ChIP-seq datasets for KRAB Zinc Finger Proteins (KZNFs) – a family of proteins known to bind and repress certain classes of repeats. We used the UCSC Repeat Browser in combination with these datasets, as well as RepeatMasker annotations in several non-human primates, to trace the independent trajectories of species-specific evolutionary battles between LINE 1 retroelements and their repressors. Furthermore, we document at https://repeatbrowser.ucsc.edu how researchers can map their own human genome annotations to these reference repeat sequences. CONCLUSIONS: The UCSC Repeat Browser allows easy and intuitive visualization of genomic data on consensus repeat elements, circumventing the problem of multi-mapping, in which sequencing reads of repeat elements map to multiple locations on the human genome. By developing a reference consensus, multiple datasets and annotation tracks can easily be overlaid to reveal complex evolutionary histories of repeats in a single interactive window. Specifically, we use this approach to retrace the history of several primate specific LINE-1 families across apes, and discover several species-specific routes of evolution that correlate with the emergence and binding of KZNFs.
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spelling pubmed-71106672020-04-07 The UCSC repeat browser allows discovery and visualization of evolutionary conflict across repeat families Fernandes, Jason D. Zamudio-Hurtado, Armando Clawson, Hiram Kent, W. James Haussler, David Salama, Sofie R. Haeussler, Maximilian Mob DNA Software BACKGROUND: Nearly half the human genome consists of repeat elements, most of which are retrotransposons, and many of which play important biological roles. However repeat elements pose several unique challenges to current bioinformatic analyses and visualization tools, as short repeat sequences can map to multiple genomic loci resulting in their misclassification and misinterpretation. In fact, sequence data mapping to repeat elements are often discarded from analysis pipelines. Therefore, there is a continued need for standardized tools and techniques to interpret genomic data of repeats. RESULTS: We present the UCSC Repeat Browser, which consists of a complete set of human repeat reference sequences derived from annotations made by the commonly used program RepeatMasker. The UCSC Repeat Browser also provides an alignment from the human genome to these references, uses it to map the standard human genome annotation tracks, and presents all of them as a comprehensive interface to facilitate work with repetitive elements. It also provides processed tracks of multiple publicly available datasets of particular interest to the repeat community, including ChIP-seq datasets for KRAB Zinc Finger Proteins (KZNFs) – a family of proteins known to bind and repress certain classes of repeats. We used the UCSC Repeat Browser in combination with these datasets, as well as RepeatMasker annotations in several non-human primates, to trace the independent trajectories of species-specific evolutionary battles between LINE 1 retroelements and their repressors. Furthermore, we document at https://repeatbrowser.ucsc.edu how researchers can map their own human genome annotations to these reference repeat sequences. CONCLUSIONS: The UCSC Repeat Browser allows easy and intuitive visualization of genomic data on consensus repeat elements, circumventing the problem of multi-mapping, in which sequencing reads of repeat elements map to multiple locations on the human genome. By developing a reference consensus, multiple datasets and annotation tracks can easily be overlaid to reveal complex evolutionary histories of repeats in a single interactive window. Specifically, we use this approach to retrace the history of several primate specific LINE-1 families across apes, and discover several species-specific routes of evolution that correlate with the emergence and binding of KZNFs. BioMed Central 2020-03-31 /pmc/articles/PMC7110667/ /pubmed/32266012 http://dx.doi.org/10.1186/s13100-020-00208-w Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Software
Fernandes, Jason D.
Zamudio-Hurtado, Armando
Clawson, Hiram
Kent, W. James
Haussler, David
Salama, Sofie R.
Haeussler, Maximilian
The UCSC repeat browser allows discovery and visualization of evolutionary conflict across repeat families
title The UCSC repeat browser allows discovery and visualization of evolutionary conflict across repeat families
title_full The UCSC repeat browser allows discovery and visualization of evolutionary conflict across repeat families
title_fullStr The UCSC repeat browser allows discovery and visualization of evolutionary conflict across repeat families
title_full_unstemmed The UCSC repeat browser allows discovery and visualization of evolutionary conflict across repeat families
title_short The UCSC repeat browser allows discovery and visualization of evolutionary conflict across repeat families
title_sort ucsc repeat browser allows discovery and visualization of evolutionary conflict across repeat families
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7110667/
https://www.ncbi.nlm.nih.gov/pubmed/32266012
http://dx.doi.org/10.1186/s13100-020-00208-w
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