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.
© 2014 The Author(s) Published by the Royal Society. All rights reserved.
Publication Date: 2014-12-10 PubMed ID: 25487337PubMed Central: PMC4275893DOI: 10.1098/rstb.2013.0386Google Scholar: Lookup
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Summary
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This research investigates how the genetic traits causing leopard complex spotting and congenital stationary night blindness in horses have changed over time due to fluctuating selection pressures. The study used DNA samples from archaeological horse bones dating from the Late Pleistocene to medieval times.
Research Methodology
- The team focused on a single nucleotide polymorphism (a variation at a single position in a DNA sequence) in the TRPM1 gene, which is known to be associated with Leopard complex spotting and congenital stationary night blindness.
- The DNA samples were taken from 96 archaeological bone specimens collected at 31 locations. The specimens range in age from the Late Pleistocene era (approximately 17,000 years before present) to medieval times.
- The team performed an approximate Bayesian computation analysis, a method used to estimate parameters of complex models in evolutionary biology, to test for changes in the frequency of the spotting-associated allele (a variant form of a gene) over time.
- The researchers also estimated coefficients of selection, which measure changes in ‘fitness’ or success in survival and reproduction due to a particular genetic trait.
Findings
- The study discovered that the first genetic evidence of Leopard complex spotting in horses dates back to the Late Pleistocene era.
- The frequency of the LP associated allele, responsible for the spotting phenotype, showed significant changes over time that matched shifts in artificial selection pressure. This indicates that human intervention, probably in breeding practices, influenced the presence of this trait in the population.
- The researchers discovered a particularly high number of leopard spotted horses from Kirklareli-Kanligecit in Turkey which dated back to 2700-2200 BC – 6 out of 10 individuals displayed the trait, including one adult that showed homozygosity (meaning it had the same version of the gene on both the maternal and paternal chromosomes).
- A sharp decrease in the presence of the LP spotting during the late Bronze Age suggested that there was a period of selection against this phenotype.
- An upsurge of the phenotype during the Iron Age signified re-emergence. The researchers posit that this was likely due to reintroduction into the domestic gene pool from wild horses.
Implications
- The pattern of fluctuating selection regimes depicted in this study can explain how genetic diversity was maintained in domestic horses despite consistent selection for other traits. As different traits became preferable at different times, various genetic traits were preserved in the population.
- This study also highlights the influence humans have had on genetic selection in domestic animals, through choosing which traits are desirable at different times.
Cite This Article
APA
Ludwig A, Reissmann M, Benecke N, Bellone R, Sandoval-Castellanos E, Cieslak M, Fortes GG, Morales-Muñiz A, Hofreiter M, Pruvost M.
(2014).
Twenty-five thousand years of fluctuating selection on leopard complex spotting and congenital night blindness in horses.
Philos Trans R Soc Lond B Biol Sci, 370(1660), 20130386.
https://doi.org/10.1098/rstb.2013.0386 Publication
Researcher Affiliations
- Department of Evolutionary Genetics, Leibniz Institute for Zoo and Wildlife Research, Berlin, Germany ludwig@izw-berlin.de.
- Department for Crop and Animal Sciences, Humboldt University Berlin, Berlin, Germany.
- Department of Natural Sciences, German Archaeological Institute, Berlin, Germany.
- Department of Population Health and Reproduction and the Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, CA 95616, USA.
- Department of Bioinformatics and Genetics, Swedish Museum of Natural History, 10405 Stockholm, Sweden.
- Department of Evolutionary Genetics, Leibniz Institute for Zoo and Wildlife Research, Berlin, Germany.
- Department of Biology, University of York, Heslington, York, UK Instituto Universitario de Xeología (IUX), A Coruña, Spain.
- Laboratory of Archaeozoology, Universidad Autonoma de Madrid, Madrid, Spain.
- 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.
- 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.
MeSH Terms
- Animals
- Base Sequence
- Bayes Theorem
- DNA / genetics
- DNA / history
- DNA Mutational Analysis / veterinary
- DNA Primers / genetics
- Europe
- Eye Diseases, Hereditary / genetics
- Eye Diseases, Hereditary / veterinary
- Fossils
- Gene Frequency
- Genetic Diseases, X-Linked / genetics
- Genetic Diseases, X-Linked / veterinary
- Genetic Variation
- Hair Color / genetics
- History, Ancient
- History, Medieval
- Horse Diseases / genetics
- Horse Diseases / history
- Horses
- Molecular Sequence Data
- Myopia / genetics
- Myopia / veterinary
- Night Blindness / genetics
- Night Blindness / veterinary
- Polymorphism, Single Nucleotide / genetics
- Selection, Genetic
- TRPM Cation Channels / genetics
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