title: Twenty-five thousand years of fluctuating selection on leopard complex spotting and congenital night blindness in horses.
abstract: Leopard complex spotting is inherited by the incompletely dominant locus, LP, which also causes congenital stationary night blindness in homozygous horses. We investigated an associated single nucleotide polymorphism in the TRPM1 gene in 96 archaeological bones from 31 localities from Late Pleistocene (approx. 17 000 YBP) to medieval times. The first genetic evidence of LP spotting in Europe dates back to the Pleistocene. We tested for temporal changes in the LP associated allele frequency and estimated coefficients of selection by means of approximate Bayesian computation analyses. Our results show that at least some of the observed frequency changes are congruent with shifts in artificial selection pressure for the leopard complex spotting phenotype. In early domestic horses from Kirklareli-Kanligecit (Turkey) dating to 2700-2200 BC, a remarkably high number of leopard spotted horses (six of 10 individuals) was detected including one adult homozygote. However, LP seems to have largely disappeared during the late Bronze Age, suggesting selection against this phenotype in early domestic horses. During the Iron Age, LP reappeared, probably by reintroduction into the domestic gene pool from wild animals. This picture of alternating selective regimes might explain how genetic diversity was maintained in domestic animals despite selection for specific traits at different times.
authors.affiliation: Department of Evolutionary Genetics, Leibniz Institute for Zoo and Wildlife Research, Berlin, Germany ludwig@izw-berlin.de.
authors.forename: Arne
authors.initials: A
authors.lastname: Ludwig
authors.affiliation: Department for Crop and Animal Sciences, Humboldt University Berlin, Berlin, Germany.
authors.forename: Monika
authors.initials: M
authors.lastname: Reissmann
authors.affiliation: Department of Natural Sciences, German Archaeological Institute, Berlin, Germany.
authors.forename: Norbert
authors.initials: N
authors.lastname: Benecke
authors.affiliation: Department of Population Health and Reproduction and the Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, CA 95616, USA.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Bellone
authors.affiliation: Department of Bioinformatics and Genetics, Swedish Museum of Natural History, 10405 Stockholm, Sweden.
authors.forename: Edson
authors.initials: E
authors.lastname: Sandoval-Castellanos
authors.affiliation: Department of Evolutionary Genetics, Leibniz Institute for Zoo and Wildlife Research, Berlin, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Cieslak
authors.affiliation: Department of Biology, University of York, Heslington, York, UK Instituto Universitario de Xeología (IUX), A Coruña, Spain.
authors.forename: Gloria G
authors.initials: GG
authors.lastname: Fortes
authors.affiliation: Laboratory of Archaeozoology, Universidad Autonoma de Madrid, Madrid, Spain.
authors.forename: Arturo
authors.initials: A
authors.lastname: Morales-Muñiz
authors.affiliation: Department of Biology, University of York, Heslington, York, UK Adaptive and Evolutionary Genomics, Institute for Biochemistry and Biology, Faculty of Mathematics and Natural Sciences, University of Potsdam, Karl-Liebknecht-Strasse 24-24, 14476 Potsdam, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Hofreiter
authors.affiliation: Department of Evolutionary Genetics, Leibniz Institute for Zoo and Wildlife Research, Berlin, Germany Department of Natural Sciences, German Archaeological Institute, Berlin, Germany Institut Jacques Monod, UMR 7592 CNRS, Université Paris Diderot, Paris, France.
authors.forename: Melanie
authors.initials: M
authors.lastname: Pruvost
mesh_terms: D000818:Animals; D001483:Base Sequence; D001499:Bayes Theorem; D004247:DNA / Q000235:genetics / Q000266:history; D004252:DNA Mutational Analysis / Q000662:veterinary; D017931:DNA Primers / Q000235:genetics; D005060:Europe; D015785:Eye Diseases, Hereditary / Q000235:genetics / Q000662:veterinary*; D005580:Fossils; D005787:Gene Frequency; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000662:veterinary*; D014644:Genetic Variation; D006200:Hair Color / Q000235:genetics*; D049690:History, Ancient; D049691:History, Medieval; D006734:Horse Diseases / Q000235:genetics* / Q000266:history*; D006736:Horses; D008969:Molecular Sequence Data; D009216:Myopia / Q000235:genetics / Q000662:veterinary*; D009755:Night Blindness / Q000235:genetics / Q000662:veterinary*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012641:Selection, Genetic; D050053:TRPM Cation Channels / Q000235:genetics*
chemical_list: D017931:DNA Primers; D050053:TRPM Cation Channels; D004247:DNA
keywords: ancient DNA; coat colour; domestication, Equus; palaeogenetics; population