bioRxiv preprint doi: https://doi.org/10.1101/328690; this version posted May 22, 2018. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY 4.0 International license. Merle phenotypes in dogs – SILV SINE insertions from Mc to Mh Mary Langevin*, Helena Synkova**, Tereza Jancuskova***, Sona Pekova+*** *Cat´s Cradle Catahoulas, Oro Medonte, Ontario, Canada **European Association of Louisiana Catahoulas, K. Chocholy 16, 370 05 Ceske Budejovice, Czech Republic ***Vemodia a.s., Laboratory for veterinary molecular diagnostics, V Hurkach 3, Prague, Czech Republic +Corresponding author:
[email protected] 1 bioRxiv preprint doi: https://doi.org/10.1101/328690; this version posted May 22, 2018. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY 4.0 International license. ABSTRACT It has been recognized that the Merle coat pattern is not only a visually interesting feature, but it also exerts an important biological role, in terms of hearing and vision impairments. In 2006, the Merle (M) locus was mapped to the SILV gene with a SINE element in it, and the inserted retroelement was proven causative to the Merle phenotype. Mapping of the M locus was a genetic breakthrough and many breeders started implementing SILV SINE testing in their breeding programs. Unfortunately, the situation turned out complicated as genotypes of Merle tested individuals did not always correspond to expected phenotypes, sometimes with undesired health consequences in offspring.