Ludwig Arne, Reissmann Monika, Benecke Norbert, Bellone Rebecca, Sandoval-Castellanos Edson, Cieslak Michael, Fortes Gloria G, Morales-Muñiz Arturo, Hofreiter Michael, Pruvost Melanie
Department of Evolutionary Genetics, Leibniz Institute for Zoo and Wildlife Research, Berlin, Germany
Department for Crop and Animal Sciences, Humboldt University Berlin, Berlin, Germany.
Philos Trans R Soc Lond B Biol Sci. 2015 Jan 19;370(1660):20130386. doi: 10.1098/rstb.2013.0386.
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.
豹斑复合体毛色斑点由不完全显性基因座LP遗传而来，该基因座在纯合马中还会导致先天性静止性夜盲。我们研究了晚更新世（约17000年前）至中世纪31个地点的96块考古骨骼中TRPM1基因的一个相关单核苷酸多态性。欧洲LP毛色斑点的首个遗传证据可追溯到更新世。我们通过近似贝叶斯计算分析测试了LP相关等位基因频率的时间变化，并估计了选择系数。我们的结果表明，至少部分观察到的频率变化与豹斑复合体毛色斑点表型的人工选择压力变化一致。在公元前2700 - 2200年来自土耳其基尔克拉雷利 - 坎利盖奇特的早期家马中，检测到数量显著的豹斑马（10匹马中有6匹），包括一匹成年纯合子。然而，LP在青铜时代晚期似乎已基本消失，这表明早期家马中对这种表型存在选择淘汰。在铁器时代，LP再次出现，可能是通过野生动物重新引入到家养基因库中。这种交替选择模式的情况或许可以解释尽管在不同时期对特定性状进行了选择，但家养动物的遗传多样性是如何得以维持的。
