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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Main Authors: Clément Zanolli, Mathilde Hourset, Rémi Esclassan, Catherine Mollereau
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0183802&type=printable
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author Clément Zanolli
Mathilde Hourset
Rémi Esclassan
Catherine Mollereau
author_facet Clément Zanolli
Mathilde Hourset
Rémi Esclassan
Catherine Mollereau
author_sort Clément Zanolli
collection DOAJ
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 doaj-art-1a5199eddace402aaad8f2bdd8f25e372025-08-20T03:04:57ZengPublic Library of Science (PLoS)PLoS ONE1932-62032017-01-01129e018380210.1371/journal.pone.0183802Neanderthal and Denisova tooth protein variants in present-day humans.Clément ZanolliMathilde HoursetRémi EsclassanCatherine MollereauEnvironment 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.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0183802&type=printable
spellingShingle Clément Zanolli
Mathilde Hourset
Rémi Esclassan
Catherine Mollereau
Neanderthal and Denisova tooth protein variants in present-day humans.
PLoS ONE
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
url https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0183802&type=printable
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AT mathildehourset neanderthalanddenisovatoothproteinvariantsinpresentdayhumans
AT remiesclassan neanderthalanddenisovatoothproteinvariantsinpresentdayhumans
AT catherinemollereau neanderthalanddenisovatoothproteinvariantsinpresentdayhumans