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<OAI-PMH schemaLocation=http://www.openarchives.org/OAI/2.0/ http://www.openarchives.org/OAI/2.0/OAI-PMH.xsd> <responseDate>2018-01-17T12:07:20Z</responseDate> <request identifier=oai:HAL:hal-01545488v1 verb=GetRecord metadataPrefix=oai_dc>http://api.archives-ouvertes.fr/oai/hal/</request> <GetRecord> <record> <header> <identifier>oai:HAL:hal-01545488v1</identifier> <datestamp>2018-01-11</datestamp> <setSpec>type:ART</setSpec> <setSpec>subject:sdv</setSpec> <setSpec>collection:EVOL_PARIS_SEINE-EDS</setSpec> <setSpec>collection:EVOLUTION_PARIS_SEINE</setSpec> <setSpec>collection:UPMC</setSpec> <setSpec>collection:CNRS</setSpec> <setSpec>collection:UNIV-AG</setSpec> <setSpec>collection:UNICE</setSpec> <setSpec>collection:SAE</setSpec> <setSpec>collection:GIP-BE</setSpec> <setSpec>collection:UPMC_POLE_4</setSpec> <setSpec>collection:IBPS</setSpec> <setSpec>collection:UCA-TEST</setSpec> <setSpec>collection:UNIV-COTEDAZUR</setSpec> </header> <metadata><dc> <publisher>HAL CCSD</publisher> <title lang=en>Evolutionary Analysis Suggests That AMTN is Enamel-specific and a Candidate for AI</title> <creator>Gasse, B.</creator> <creator>Silvent, J.</creator> <creator>Sire, J-Y</creator> <contributor>Evolution et développement du squelette (EDS) ; Systématique, adaptation, évolution (SAE) ; Centre National de la Recherche Scientifique (CNRS) - Université Pierre et Marie Curie - Paris 6 (UPMC) - Centre National de la Recherche Scientifique (CNRS) - Université Pierre et Marie Curie - Paris 6 (UPMC) - Evolution Paris Seine ; Université des Antilles et de la Guyane (UAG) - Université Pierre et Marie Curie - Paris 6 (UPMC) - Université Nice Sophia Antipolis (UNS) ; Université Côte d'Azur (UCA) - Université Côte d'Azur (UCA) - Centre National de la Recherche Scientifique (CNRS) - Université des Antilles et de la Guyane (UAG) - Université Nice Sophia Antipolis (UNS) ; Université Côte d'Azur (UCA) - Université Côte d'Azur (UCA)</contributor> <contributor>CNRS</contributor> <contributor> Universite Pierre Marie Curie</contributor> <contributor> National ``Programme Hospitalier de Recherche Clinique'' (PHRC) from the French Ministry of Health, via the ``Hopitaux Universitaires de Strasbourg''</contributor> <description>International audience</description> <source>ISSN: 0022-0345</source> <source>Journal of Dental Research</source> <publisher>SAGE Publications (UK and US)</publisher> <identifier>hal-01545488</identifier> <identifier>https://hal.archives-ouvertes.fr/hal-01545488</identifier> <source>https://hal.archives-ouvertes.fr/hal-01545488</source> <source>Journal of Dental Research, SAGE Publications (UK and US), 2012, 91 (11), pp.1085-1089. 〈10.1177/0022034512460551〉</source> <identifier>DOI : 10.1177/0022034512460551</identifier> <relation>info:eu-repo/semantics/altIdentifier/doi/10.1177/0022034512460551</relation> <language>en</language> <subject lang=en>enamel matrix proteins</subject> <subject lang=en> amelogenesis imperfecta</subject> <subject lang=en> mammals</subject> <subject lang=en> pseudogene</subject> <subject lang=en> in silico analysis</subject> <subject lang=en> genetic disease</subject> <subject>[SDV.BID.EVO] Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE]</subject> <type>info:eu-repo/semantics/article</type> <type>Journal articles</type> <description lang=en>Molecular evolutionary analysis is an efficient method to predict and/or validate amino acid substitutions that could lead to a genetic disease and to highlight residues and motifs that could play an important role in the protein structure and/or function. We have applied such analysis to amelotin (AMTN), a recently identified enamel protein in the rat, mouse, and humans. An in silico search for AMTN provided 42 new mammalian sequences that were added to the 3 published sequences with which we performed the analysis using a dataset representative of all lineages (circa 220 million years of evolution), including 2 enamel-less species, sloth and armadillo. During evolution, of the 209 residues of human AMTN, 17 were unchanged and 34 had conserved their chemical properties. Substituting these important residues could lead to amelogenesis imperfecta (AI). Also, AMTN possesses a well-conserved signal peptide, 2 conserved motifs whose function is certainly important but unknown, and a putative phosphorylation site (SXE). In addition, the sequences of the 2 enamel-less species display mutations revealing that AMTN underwent pseudogenization, which suggests that AMTN is an enamel-specific protein.</description> <date>2012-11</date> </dc> </metadata> </record> </GetRecord> </OAI-PMH>