The dental phenotype of hairless dogs with FOXI3 haploinsufficiency

Abstract Hairless dog breeds show a form of ectodermal dysplasia characterised by a lack of hair and abnormal tooth morphology. This has been attributed to a semi-dominant 7-base-pair duplication in the first exon of the forkhead box I3 gene (FOXI3) shared by all three breeds. Here, we identified th...

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Main Authors: Kornelius Kupczik, Alexander Cagan, Silke Brauer, Martin S. Fischer
Format: Article
Language:English
Published: Nature Portfolio 2017-07-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-017-05764-5
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author Kornelius Kupczik
Alexander Cagan
Silke Brauer
Martin S. Fischer
author_facet Kornelius Kupczik
Alexander Cagan
Silke Brauer
Martin S. Fischer
author_sort Kornelius Kupczik
collection DOAJ
description Abstract Hairless dog breeds show a form of ectodermal dysplasia characterised by a lack of hair and abnormal tooth morphology. This has been attributed to a semi-dominant 7-base-pair duplication in the first exon of the forkhead box I3 gene (FOXI3) shared by all three breeds. Here, we identified this FOXI3 variant in a historical museum sample of pedigreed hairless dog skulls by using ancient DNA extraction and present the associated dental phenotype. Unlike in the coated wild type dogs, the hairless dogs were characterised in both the mandibular and maxillary dentition by a loss of the permanent canines, premolars and to some extent incisors. In addition, the deciduous fourth premolars and permanent first and second molars consistently lacked the distal and lingual cusps; this resulted in only a single enlarged cusp in the basin-like heel (talonid in lower molars, talon in upper molars). This molar phenotype is also found among several living and fossil carnivorans and the extinct order Creodonta in which it is associated with hypercarnivory. We therefore suggest that FOXI3 may generally be involved in dental (cusp) development within and across mammalian lineages including the hominids which are known to exhibit marked variability in the presence of lingual cusps.
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spelling doaj.art-94261aecac0f47f6ac00b8280aefedaa2022-12-21T23:38:24ZengNature PortfolioScientific Reports2045-23222017-07-01711810.1038/s41598-017-05764-5The dental phenotype of hairless dogs with FOXI3 haploinsufficiencyKornelius Kupczik0Alexander Cagan1Silke Brauer2Martin S. Fischer3Max Planck Weizmann Center for Integrative Archaeology and Anthropology, Max Planck Institute for Evolutionary AnthropologyDepartment of Evolutionary Genetics, Max Planck Institute for Evolutionary AnthropologyMax Planck Weizmann Center for Integrative Archaeology and Anthropology, Max Planck Institute for Evolutionary AnthropologyInstitut für Spezielle Zoologie und Evolutionsbiologie mit Phyletischem Museum, Friedrich-Schiller-UniversitätAbstract Hairless dog breeds show a form of ectodermal dysplasia characterised by a lack of hair and abnormal tooth morphology. This has been attributed to a semi-dominant 7-base-pair duplication in the first exon of the forkhead box I3 gene (FOXI3) shared by all three breeds. Here, we identified this FOXI3 variant in a historical museum sample of pedigreed hairless dog skulls by using ancient DNA extraction and present the associated dental phenotype. Unlike in the coated wild type dogs, the hairless dogs were characterised in both the mandibular and maxillary dentition by a loss of the permanent canines, premolars and to some extent incisors. In addition, the deciduous fourth premolars and permanent first and second molars consistently lacked the distal and lingual cusps; this resulted in only a single enlarged cusp in the basin-like heel (talonid in lower molars, talon in upper molars). This molar phenotype is also found among several living and fossil carnivorans and the extinct order Creodonta in which it is associated with hypercarnivory. We therefore suggest that FOXI3 may generally be involved in dental (cusp) development within and across mammalian lineages including the hominids which are known to exhibit marked variability in the presence of lingual cusps.https://doi.org/10.1038/s41598-017-05764-5
spellingShingle Kornelius Kupczik
Alexander Cagan
Silke Brauer
Martin S. Fischer
The dental phenotype of hairless dogs with FOXI3 haploinsufficiency
Scientific Reports
title The dental phenotype of hairless dogs with FOXI3 haploinsufficiency
title_full The dental phenotype of hairless dogs with FOXI3 haploinsufficiency
title_fullStr The dental phenotype of hairless dogs with FOXI3 haploinsufficiency
title_full_unstemmed The dental phenotype of hairless dogs with FOXI3 haploinsufficiency
title_short The dental phenotype of hairless dogs with FOXI3 haploinsufficiency
title_sort dental phenotype of hairless dogs with foxi3 haploinsufficiency
url https://doi.org/10.1038/s41598-017-05764-5
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