PMID- 28710361 OWN - NLM STAT- MEDLINE DCOM- 20190116 LR - 20240326 IS - 2045-2322 (Electronic) IS - 2045-2322 (Linking) VI - 7 IP - 1 DP - 2017 Jul 14 TI - The dental phenotype of hairless dogs with FOXI3 haploinsufficiency. PG - 5459 LID - 10.1038/s41598-017-05764-5 [doi] LID - 5459 AB - 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. FAU - Kupczik, Kornelius AU - Kupczik K AUID- ORCID: 0000-0003-1502-581X AD - Max Planck Weizmann Center for Integrative Archaeology and Anthropology, Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, 04103, Leipzig, Germany. kornelius_kupczik@eva.mpg.de. AD - Institut fur Spezielle Zoologie und Evolutionsbiologie mit Phyletischem Museum, Friedrich-Schiller-Universitat, Erbertstrasse 1, 07743, Jena, Germany. kornelius_kupczik@eva.mpg.de. FAU - Cagan, Alexander AU - Cagan A AD - Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, 04103, Leipzig, Germany. AD - Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK. FAU - Brauer, Silke AU - Brauer S AD - Max Planck Weizmann Center for Integrative Archaeology and Anthropology, Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, 04103, Leipzig, Germany. FAU - Fischer, Martin S AU - Fischer MS AD - Institut fur Spezielle Zoologie und Evolutionsbiologie mit Phyletischem Museum, Friedrich-Schiller-Universitat, Erbertstrasse 1, 07743, Jena, Germany. LA - eng GR - Wellcome Trust/United Kingdom PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20170714 PL - England TA - Sci Rep JT - Scientific reports JID - 101563288 RN - 0 (Forkhead Transcription Factors) SB - IM MH - Animals MH - Bicuspid/*anatomy & histology/diagnostic imaging MH - Cuspid/*anatomy & histology/diagnostic imaging MH - Dentition, Permanent MH - Dogs MH - *Exons MH - Female MH - Forkhead Transcription Factors/*genetics MH - Fossils MH - Gene Expression MH - Hair/abnormalities MH - Incisor/*anatomy & histology/diagnostic imaging MH - Male MH - Mandible/anatomy & histology/diagnostic imaging MH - Maxilla/anatomy & histology/diagnostic imaging MH - Molar/*anatomy & histology/diagnostic imaging MH - Mutagenesis, Insertional MH - Phenotype MH - Tomography, X-Ray Computed MH - Tooth, Deciduous/anatomy & histology/diagnostic imaging PMC - PMC5511229 COIS- The authors declare that they have no competing interests. EDAT- 2017/07/16 06:00 MHDA- 2019/01/17 06:00 PMCR- 2017/07/14 CRDT- 2017/07/16 06:00 PHST- 2016/11/28 00:00 [received] PHST- 2017/06/02 00:00 [accepted] PHST- 2017/07/16 06:00 [entrez] PHST- 2017/07/16 06:00 [pubmed] PHST- 2019/01/17 06:00 [medline] PHST- 2017/07/14 00:00 [pmc-release] AID - 10.1038/s41598-017-05764-5 [pii] AID - 5764 [pii] AID - 10.1038/s41598-017-05764-5 [doi] PST - epublish SO - Sci Rep. 2017 Jul 14;7(1):5459. doi: 10.1038/s41598-017-05764-5.