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A chromosome-scale assembly of the axolotl genome

The axolotl (Ambystoma mexicanum) provides critical models for studying regeneration, evolution, and development. However, its large genome (∼32 Gb) presents a formidable barrier to genetic analyses. Recent efforts have yielded genome assemblies consisting of thousands of unordered scaffolds that re...

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Autores principales: Smith, Jeramiah J., Timoshevskaya, Nataliya, Timoshevskiy, Vladimir A., Keinath, Melissa C., Hardy, Drew, Voss, S. Randal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360810/
https://www.ncbi.nlm.nih.gov/pubmed/30679309
http://dx.doi.org/10.1101/gr.241901.118
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author Smith, Jeramiah J.
Timoshevskaya, Nataliya
Timoshevskiy, Vladimir A.
Keinath, Melissa C.
Hardy, Drew
Voss, S. Randal
author_facet Smith, Jeramiah J.
Timoshevskaya, Nataliya
Timoshevskiy, Vladimir A.
Keinath, Melissa C.
Hardy, Drew
Voss, S. Randal
author_sort Smith, Jeramiah J.
collection PubMed
description The axolotl (Ambystoma mexicanum) provides critical models for studying regeneration, evolution, and development. However, its large genome (∼32 Gb) presents a formidable barrier to genetic analyses. Recent efforts have yielded genome assemblies consisting of thousands of unordered scaffolds that resolve gene structures, but do not yet permit large-scale analyses of genome structure and function. We adapted an established mapping approach to leverage dense SNP typing information and for the first time assemble the axolotl genome into 14 chromosomes. Moreover, we used fluorescence in situ hybridization to verify the structure of these 14 scaffolds and assign each to its corresponding physical chromosome. This new assembly covers 27.3 Gb and encompasses 94% of annotated gene models on chromosomal scaffolds. We show the assembly's utility by resolving genome-wide orthologies between the axolotl and other vertebrates, identifying the footprints of historical introgression events that occurred during the development of axolotl genetic stocks, and precisely mapping several phenotypes including a large deletion underlying the cardiac mutant. This chromosome-scale assembly will greatly facilitate studies of the axolotl in biological research.
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spelling pubmed-63608102019-08-01 A chromosome-scale assembly of the axolotl genome Smith, Jeramiah J. Timoshevskaya, Nataliya Timoshevskiy, Vladimir A. Keinath, Melissa C. Hardy, Drew Voss, S. Randal Genome Res Resource The axolotl (Ambystoma mexicanum) provides critical models for studying regeneration, evolution, and development. However, its large genome (∼32 Gb) presents a formidable barrier to genetic analyses. Recent efforts have yielded genome assemblies consisting of thousands of unordered scaffolds that resolve gene structures, but do not yet permit large-scale analyses of genome structure and function. We adapted an established mapping approach to leverage dense SNP typing information and for the first time assemble the axolotl genome into 14 chromosomes. Moreover, we used fluorescence in situ hybridization to verify the structure of these 14 scaffolds and assign each to its corresponding physical chromosome. This new assembly covers 27.3 Gb and encompasses 94% of annotated gene models on chromosomal scaffolds. We show the assembly's utility by resolving genome-wide orthologies between the axolotl and other vertebrates, identifying the footprints of historical introgression events that occurred during the development of axolotl genetic stocks, and precisely mapping several phenotypes including a large deletion underlying the cardiac mutant. This chromosome-scale assembly will greatly facilitate studies of the axolotl in biological research. Cold Spring Harbor Laboratory Press 2019-02 /pmc/articles/PMC6360810/ /pubmed/30679309 http://dx.doi.org/10.1101/gr.241901.118 Text en © 2019 Smith et al.; Published by Cold Spring Harbor Laboratory Press http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed exclusively by Cold Spring Harbor Laboratory Press for the first six months after the full-issue publication date (see http://genome.cshlp.org/site/misc/terms.xhtml). After six months, it is available under a Creative Commons License (Attribution-NonCommercial 4.0 International), as described at http://creativecommons.org/licenses/by-nc/4.0/.
spellingShingle Resource
Smith, Jeramiah J.
Timoshevskaya, Nataliya
Timoshevskiy, Vladimir A.
Keinath, Melissa C.
Hardy, Drew
Voss, S. Randal
A chromosome-scale assembly of the axolotl genome
title A chromosome-scale assembly of the axolotl genome
title_full A chromosome-scale assembly of the axolotl genome
title_fullStr A chromosome-scale assembly of the axolotl genome
title_full_unstemmed A chromosome-scale assembly of the axolotl genome
title_short A chromosome-scale assembly of the axolotl genome
title_sort chromosome-scale assembly of the axolotl genome
topic Resource
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360810/
https://www.ncbi.nlm.nih.gov/pubmed/30679309
http://dx.doi.org/10.1101/gr.241901.118
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