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Neanderthal and Denisova tooth protein variants in present-day humans

Environment parameters, diet and genetic factors interact to shape tooth morphostructure. In the human lineage, archaic and modern hominins show differences in dental traits, including enamel thickness, but variability also exists among living populations. Several polymorphisms, in particular in the...

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Autores principales: Zanolli, Clément, Hourset, Mathilde, Esclassan, Rémi, Mollereau, Catherine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5597096/
https://www.ncbi.nlm.nih.gov/pubmed/28902892
http://dx.doi.org/10.1371/journal.pone.0183802
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author Zanolli, Clément
Hourset, Mathilde
Esclassan, Rémi
Mollereau, Catherine
author_facet Zanolli, Clément
Hourset, Mathilde
Esclassan, Rémi
Mollereau, Catherine
author_sort Zanolli, Clément
collection PubMed
description Environment parameters, diet and genetic factors interact to shape tooth morphostructure. In the human lineage, archaic and modern hominins show differences in dental traits, including enamel thickness, but variability also exists among living populations. Several polymorphisms, in particular in the non-collagenous extracellular matrix proteins of the tooth hard tissues, like enamelin, are involved in dental structure variation and defects and may be associated with dental disorders or susceptibility to caries. To gain insights into the relationships between tooth protein polymorphisms and dental structural morphology and defects, we searched for non-synonymous polymorphisms in tooth proteins from Neanderthal and Denisova hominins. The objective was to identify archaic-specific missense variants that may explain the dental morphostructural variability between extinct and modern humans, and to explore their putative impact on present-day dental phenotypes. Thirteen non-collagenous extracellular matrix proteins specific to hard dental tissues have been selected, searched in the publicly available sequence databases of Neanderthal and Denisova individuals and compared with modern human genome data. A total of 16 non-synonymous polymorphisms were identified in 6 proteins (ameloblastin, amelotin, cementum protein 1, dentin matrix acidic phosphoprotein 1, enamelin and matrix Gla protein). Most of them are encoded by dentin and enamel genes located on chromosome 4, previously reported to show signs of archaic introgression within Africa. Among the variants shared with modern humans, two are ancestral (common with apes) and one is the derived enamelin major variant, T648I (rs7671281), associated with a thinner enamel and specific to the Homo lineage. All the others are specific to Neanderthals and Denisova, and are found at a very low frequency in modern Africans or East and South Asians, suggesting that they may be related to particular dental traits or disease susceptibility in these populations. This modern regional distribution of archaic dental polymorphisms may reflect persistence of archaic variants in some populations and may contribute in part to the geographic dental variations described in modern humans.
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spelling pubmed-55970962017-09-15 Neanderthal and Denisova tooth protein variants in present-day humans Zanolli, Clément Hourset, Mathilde Esclassan, Rémi Mollereau, Catherine PLoS One Research Article Environment parameters, diet and genetic factors interact to shape tooth morphostructure. In the human lineage, archaic and modern hominins show differences in dental traits, including enamel thickness, but variability also exists among living populations. Several polymorphisms, in particular in the non-collagenous extracellular matrix proteins of the tooth hard tissues, like enamelin, are involved in dental structure variation and defects and may be associated with dental disorders or susceptibility to caries. To gain insights into the relationships between tooth protein polymorphisms and dental structural morphology and defects, we searched for non-synonymous polymorphisms in tooth proteins from Neanderthal and Denisova hominins. The objective was to identify archaic-specific missense variants that may explain the dental morphostructural variability between extinct and modern humans, and to explore their putative impact on present-day dental phenotypes. Thirteen non-collagenous extracellular matrix proteins specific to hard dental tissues have been selected, searched in the publicly available sequence databases of Neanderthal and Denisova individuals and compared with modern human genome data. A total of 16 non-synonymous polymorphisms were identified in 6 proteins (ameloblastin, amelotin, cementum protein 1, dentin matrix acidic phosphoprotein 1, enamelin and matrix Gla protein). Most of them are encoded by dentin and enamel genes located on chromosome 4, previously reported to show signs of archaic introgression within Africa. Among the variants shared with modern humans, two are ancestral (common with apes) and one is the derived enamelin major variant, T648I (rs7671281), associated with a thinner enamel and specific to the Homo lineage. All the others are specific to Neanderthals and Denisova, and are found at a very low frequency in modern Africans or East and South Asians, suggesting that they may be related to particular dental traits or disease susceptibility in these populations. This modern regional distribution of archaic dental polymorphisms may reflect persistence of archaic variants in some populations and may contribute in part to the geographic dental variations described in modern humans. Public Library of Science 2017-09-13 /pmc/articles/PMC5597096/ /pubmed/28902892 http://dx.doi.org/10.1371/journal.pone.0183802 Text en © 2017 Zanolli 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 (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Zanolli, Clément
Hourset, Mathilde
Esclassan, Rémi
Mollereau, Catherine
Neanderthal and Denisova tooth protein variants in present-day humans
title Neanderthal and Denisova tooth protein variants in present-day humans
title_full Neanderthal and Denisova tooth protein variants in present-day humans
title_fullStr Neanderthal and Denisova tooth protein variants in present-day humans
title_full_unstemmed Neanderthal and Denisova tooth protein variants in present-day humans
title_short Neanderthal and Denisova tooth protein variants in present-day humans
title_sort neanderthal and denisova tooth protein variants in present-day humans
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5597096/
https://www.ncbi.nlm.nih.gov/pubmed/28902892
http://dx.doi.org/10.1371/journal.pone.0183802
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