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Recent insertion/deletion (reINDEL) mutations: increasing awareness to boost molecular-based research in ecology and evolution

Today, the comparative analysis of DNA molecules mainly uses information inferred from nucleotide substitutions. Insertion/deletion (INDEL) mutations, in contrast, are largely considered uninformative and discarded, due to our lacking knowledge on their evolution. However, including rather than disc...

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Autores principales: Schlick-Steiner, Birgit C, Arthofer, Wolfgang, Moder, Karl, Steiner, Florian M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298431/
https://www.ncbi.nlm.nih.gov/pubmed/25628861
http://dx.doi.org/10.1002/ece3.1330
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author Schlick-Steiner, Birgit C
Arthofer, Wolfgang
Moder, Karl
Steiner, Florian M
author_facet Schlick-Steiner, Birgit C
Arthofer, Wolfgang
Moder, Karl
Steiner, Florian M
author_sort Schlick-Steiner, Birgit C
collection PubMed
description Today, the comparative analysis of DNA molecules mainly uses information inferred from nucleotide substitutions. Insertion/deletion (INDEL) mutations, in contrast, are largely considered uninformative and discarded, due to our lacking knowledge on their evolution. However, including rather than discarding INDELs would be relevant to any research area in ecology and evolution that uses molecular data. As a practical approach to better understanding INDEL evolution in general, we propose the study of recent INDEL (reINDEL) mutations – mutations where both ancestral and derived state are seen in the sample. The precondition for reINDEL identification is knowledge about the pedigree of the individuals sampled. Sound reINDEL knowledge will allow the improved modeling needed for including INDELs in the downstream analysis of molecular data. Both microsatellites, currently still the predominant marker system in the analysis of populations, and sequences generated by next-generation sequencing, a promising and rapidly developing range of technologies, offer the opportunity for reINDEL identification. However, a 2013 sample of animal microsatellite studies contained unexpectedly few reINDELs identified. As most likely explanation, we hypothesize that reINDELs are underreported rather than absent and that this underreporting stems from common reINDEL unawareness. If our hypothesis applies, increased reINDEL awareness should allow gathering data rapidly. We recommend the routine reporting of either the absence or presence of reINDELs together with standardized key information on the nature of mutations when they are detected and the use of the keyword “reINDEL” to increase visibility in both instances of successful and unsuccessful search.
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spelling pubmed-42984312015-01-27 Recent insertion/deletion (reINDEL) mutations: increasing awareness to boost molecular-based research in ecology and evolution Schlick-Steiner, Birgit C Arthofer, Wolfgang Moder, Karl Steiner, Florian M Ecol Evol Hypotheses Today, the comparative analysis of DNA molecules mainly uses information inferred from nucleotide substitutions. Insertion/deletion (INDEL) mutations, in contrast, are largely considered uninformative and discarded, due to our lacking knowledge on their evolution. However, including rather than discarding INDELs would be relevant to any research area in ecology and evolution that uses molecular data. As a practical approach to better understanding INDEL evolution in general, we propose the study of recent INDEL (reINDEL) mutations – mutations where both ancestral and derived state are seen in the sample. The precondition for reINDEL identification is knowledge about the pedigree of the individuals sampled. Sound reINDEL knowledge will allow the improved modeling needed for including INDELs in the downstream analysis of molecular data. Both microsatellites, currently still the predominant marker system in the analysis of populations, and sequences generated by next-generation sequencing, a promising and rapidly developing range of technologies, offer the opportunity for reINDEL identification. However, a 2013 sample of animal microsatellite studies contained unexpectedly few reINDELs identified. As most likely explanation, we hypothesize that reINDELs are underreported rather than absent and that this underreporting stems from common reINDEL unawareness. If our hypothesis applies, increased reINDEL awareness should allow gathering data rapidly. We recommend the routine reporting of either the absence or presence of reINDELs together with standardized key information on the nature of mutations when they are detected and the use of the keyword “reINDEL” to increase visibility in both instances of successful and unsuccessful search. BlackWell Publishing Ltd 2015-01 2014-12-04 /pmc/articles/PMC4298431/ /pubmed/25628861 http://dx.doi.org/10.1002/ece3.1330 Text en © 2014 The Authors. Ecology and Evolution published by John Wiley & Sons Ltd.
spellingShingle Hypotheses
Schlick-Steiner, Birgit C
Arthofer, Wolfgang
Moder, Karl
Steiner, Florian M
Recent insertion/deletion (reINDEL) mutations: increasing awareness to boost molecular-based research in ecology and evolution
title Recent insertion/deletion (reINDEL) mutations: increasing awareness to boost molecular-based research in ecology and evolution
title_full Recent insertion/deletion (reINDEL) mutations: increasing awareness to boost molecular-based research in ecology and evolution
title_fullStr Recent insertion/deletion (reINDEL) mutations: increasing awareness to boost molecular-based research in ecology and evolution
title_full_unstemmed Recent insertion/deletion (reINDEL) mutations: increasing awareness to boost molecular-based research in ecology and evolution
title_short Recent insertion/deletion (reINDEL) mutations: increasing awareness to boost molecular-based research in ecology and evolution
title_sort recent insertion/deletion (reindel) mutations: increasing awareness to boost molecular-based research in ecology and evolution
topic Hypotheses
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298431/
https://www.ncbi.nlm.nih.gov/pubmed/25628861
http://dx.doi.org/10.1002/ece3.1330
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