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Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh

Langevin Mary, Helena Synkova, Tereza Jancuskova, View ORCID ProfileSona Pekova
doi: https://doi.org/10.1101/328690
Langevin Mary
*Cat’s Cradle Catahoulas, Oro Medonte, Ontario, Canada
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Helena Synkova
**European Association of Louisiana Catahoulas, K. Chocholy 16, 370 05 Ceske Budejovice, Czech Republic
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Tereza Jancuskova
***Vemodia a.s., Laboratory for veterinary molecular diagnostics, V Hurkach 3, Prague, Czech Republic
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Sona Pekova
***Vemodia a.s., Laboratory for veterinary molecular diagnostics, V Hurkach 3, Prague, Czech Republic
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  • ORCID record for Sona Pekova
  • For correspondence: sona.pekova@vemodia.cz
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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. Two variants of SILV SINE, allelic to the wild type sequence, have been described so far - Mc and M.

Here we report a significantly larger portfolio of existing Merle alleles (Mc, Mc+, Ma, Ma+, M, Mh) in Merle dogs, which are associated with unique coat color features and stratified health impairment risk. The refinement of allelic identification was made possible by systematic, detailed observation of Merle phenotypes in a cohort of 181 dogs from known Merle breeds, by many breeders worldwide, and the use of advanced molecular technology enabling the discrimination of individual Merle alleles with significantly higher precision than previously available.

We also show that mosaicism of Merle alleles is an unexpectedly frequent phenomenon, which was identified in 30 out of 181 (16.6%). dogs in our study group. Importantly, not only major alleles, but also minor Merle alleles can be inherited by the offspring. Thus, mosaic findings cannot be neglected and must be reported to the breeder in their whole extent.

In light of negative health consequences that may be attributed to certain Merle breeding strategies, we strongly advocate implementation of the refined Merle allele testing for all dogs of Merle breeds to help the breeders in selection of suitable mating partners and production of healthy offspring.

Footnotes

  • Abbreviations: M – allele of Merle locus; m – non Merle; Mc – Cryptic Merle; Mc+ – Cryptic Merle +; Ma – Atypical Merle; Ma+ – Atypical Merle +; Mh – Harlequin Merle; SINE – short interspersed element; SILV – SILVer locus gene; ASD – Australian Shepherd Dog, AK – Australian Koolie, BC – Border Collie, D – Dachshund, FB – French Bulldog, LC – Louisiana Catahoula, LD – Labradoodle, MAS – Miniature American Shepherd, MAUS – Miniature Australian Shepherd, PS – Pyrenean Shepherd, RC – Rough Collie, SSD – Shetland Sheepdog, WS – Welsh Sheepdog.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license.
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Posted May 22, 2018.
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Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh
Langevin Mary, Helena Synkova, Tereza Jancuskova, Sona Pekova
bioRxiv 328690; doi: https://doi.org/10.1101/328690
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Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh
Langevin Mary, Helena Synkova, Tereza Jancuskova, Sona Pekova
bioRxiv 328690; doi: https://doi.org/10.1101/328690

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