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Possible Further Evidence of Low Genetic Diversity in the El Sidrón (Asturias, Spain) Neandertal Group: Congenital Clefts of the Atlas

We present here the first cases in Neandertals of congenital clefts of the arch of the atlas. Two atlases from El Sidrón, northern Spain, present respectively a defect of the posterior (frequency in extant modern human populations ranging from 0.73% to 3.84%), and anterior (frequency in extant moder...

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Autores principales: Ríos, Luis, Rosas, Antonio, Estalrrich, Almudena, García-Tabernero, Antonio, Bastir, Markus, Huguet, Rosa, Pastor, Francisco, Sanchís-Gimeno, Juan Alberto, de la Rasilla, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4587856/
https://www.ncbi.nlm.nih.gov/pubmed/26418427
http://dx.doi.org/10.1371/journal.pone.0136550
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author Ríos, Luis
Rosas, Antonio
Estalrrich, Almudena
García-Tabernero, Antonio
Bastir, Markus
Huguet, Rosa
Pastor, Francisco
Sanchís-Gimeno, Juan Alberto
de la Rasilla, Marco
author_facet Ríos, Luis
Rosas, Antonio
Estalrrich, Almudena
García-Tabernero, Antonio
Bastir, Markus
Huguet, Rosa
Pastor, Francisco
Sanchís-Gimeno, Juan Alberto
de la Rasilla, Marco
author_sort Ríos, Luis
collection PubMed
description We present here the first cases in Neandertals of congenital clefts of the arch of the atlas. Two atlases from El Sidrón, northern Spain, present respectively a defect of the posterior (frequency in extant modern human populations ranging from 0.73% to 3.84%), and anterior (frequency in extant modern human populations ranging from 0.087% to 0.1%) arch, a condition in most cases not associated with any clinical manifestation. The fact that two out of three observable atlases present a low frequency congenital condition, together with previously reported evidence of retained deciduous mandibular canine in two out of ten dentitions from El Sidrón, supports the previous observation based on genetic evidence that these Neandertals constituted a group with close genetic relations. Some have proposed for humans and other species that the presence of skeletal congenital conditions, although without clinical significance, could be used as a signal of endogamy or inbreeding. In the present case this interpretation would fit the general scenario of high incidence of rare conditions among Pleistocene humans and the specific scenariothat emerges from Neandertal paleogenetics, which points to long-term small and decreasing population size with reduced and isolated groups. Adverse environmental factors affecting early pregnancies would constitute an alternative, non-exclusive, explanation for a high incidence of congenital conditions. Further support or rejection of these interpretations will come from new genetic and skeletal evidence from Neandertal remains.
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spelling pubmed-45878562015-10-02 Possible Further Evidence of Low Genetic Diversity in the El Sidrón (Asturias, Spain) Neandertal Group: Congenital Clefts of the Atlas Ríos, Luis Rosas, Antonio Estalrrich, Almudena García-Tabernero, Antonio Bastir, Markus Huguet, Rosa Pastor, Francisco Sanchís-Gimeno, Juan Alberto de la Rasilla, Marco PLoS One Research Article We present here the first cases in Neandertals of congenital clefts of the arch of the atlas. Two atlases from El Sidrón, northern Spain, present respectively a defect of the posterior (frequency in extant modern human populations ranging from 0.73% to 3.84%), and anterior (frequency in extant modern human populations ranging from 0.087% to 0.1%) arch, a condition in most cases not associated with any clinical manifestation. The fact that two out of three observable atlases present a low frequency congenital condition, together with previously reported evidence of retained deciduous mandibular canine in two out of ten dentitions from El Sidrón, supports the previous observation based on genetic evidence that these Neandertals constituted a group with close genetic relations. Some have proposed for humans and other species that the presence of skeletal congenital conditions, although without clinical significance, could be used as a signal of endogamy or inbreeding. In the present case this interpretation would fit the general scenario of high incidence of rare conditions among Pleistocene humans and the specific scenariothat emerges from Neandertal paleogenetics, which points to long-term small and decreasing population size with reduced and isolated groups. Adverse environmental factors affecting early pregnancies would constitute an alternative, non-exclusive, explanation for a high incidence of congenital conditions. Further support or rejection of these interpretations will come from new genetic and skeletal evidence from Neandertal remains. Public Library of Science 2015-09-29 /pmc/articles/PMC4587856/ /pubmed/26418427 http://dx.doi.org/10.1371/journal.pone.0136550 Text en © 2015 Ríos et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Ríos, Luis
Rosas, Antonio
Estalrrich, Almudena
García-Tabernero, Antonio
Bastir, Markus
Huguet, Rosa
Pastor, Francisco
Sanchís-Gimeno, Juan Alberto
de la Rasilla, Marco
Possible Further Evidence of Low Genetic Diversity in the El Sidrón (Asturias, Spain) Neandertal Group: Congenital Clefts of the Atlas
title Possible Further Evidence of Low Genetic Diversity in the El Sidrón (Asturias, Spain) Neandertal Group: Congenital Clefts of the Atlas
title_full Possible Further Evidence of Low Genetic Diversity in the El Sidrón (Asturias, Spain) Neandertal Group: Congenital Clefts of the Atlas
title_fullStr Possible Further Evidence of Low Genetic Diversity in the El Sidrón (Asturias, Spain) Neandertal Group: Congenital Clefts of the Atlas
title_full_unstemmed Possible Further Evidence of Low Genetic Diversity in the El Sidrón (Asturias, Spain) Neandertal Group: Congenital Clefts of the Atlas
title_short Possible Further Evidence of Low Genetic Diversity in the El Sidrón (Asturias, Spain) Neandertal Group: Congenital Clefts of the Atlas
title_sort possible further evidence of low genetic diversity in the el sidrón (asturias, spain) neandertal group: congenital clefts of the atlas
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4587856/
https://www.ncbi.nlm.nih.gov/pubmed/26418427
http://dx.doi.org/10.1371/journal.pone.0136550
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