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Being Merle: The Molecular Genetic Background of the Canine Merle Mutation

Department of Genetics, Microbiology and Biotechnology, Institute of Biological Sciences, Faculty of Agricultural and Environmental Sciences, Szent István University, H-2100 Gödöllő, Hungary
Institute for Farm Animal Gene Conservation, National Centre for Biodiversity and Gene Conservation, H-2100 Gödöllő, Hungary
Department of Animal Breeding and Genetics, University of Veterinary Medicine Budapest, H-1078 Budapest, Hungary
Department of Animal Sciences, Georgikon Faculty, University of Pannonia, H-8360 Keszthely, Hungary
Author to whom correspondence should be addressed.
Genes 2020, 11(6), 660;
Received: 11 May 2020 / Revised: 10 June 2020 / Accepted: 12 June 2020 / Published: 17 June 2020
(This article belongs to the Special Issue Coat Color Genetics)
The intensity of the merle pattern is determined by the length of the poly(A) tail of a repeat element which has been inserted into the boundary of intron 10 and exon 11 of the PMEL17 locus in reverse orientation. This poly(A) tail behaves as a microsatellite, and due to replication slippage, longer and shorter alleles of it might be generated during cell divisions. The length of the poly(A) tail regulates the splicing mechanism. In the case of shorter tails, the removal of intron 10 takes place at the original splicing, resulting in a normal premelanosome protein (PMEL). Longer tails generate larger insertions, forcing splicing to a cryptic splice site, thereby coding for an abnormal PMEL protein, which is unable to form the normal fibrillar matrix of the eumelanosomes. Thus, eumelanin deposition ensuring the dark color formation is reduced. In summary, the longer the poly(A) tail, the lighter the coat color intensity of the melanocytes. These mutations can occur in the somatic cells and the resulting cell clones will shape the merle pattern of the coat. When they take place in the germ line, they occasionally produce offspring with unexpected color variations which are different from those of their parents. View Full-Text
Keywords: dog; coat color; merle; PMEL; short interspersed nuclear element (SINE); splicing; mosaicism dog; coat color; merle; PMEL; short interspersed nuclear element (SINE); splicing; mosaicism
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Varga, L.; Lénárt, X.; Zenke, P.; Orbán, L.; Hudák, P.; Ninausz, N.; Pelles, Z.; Szőke, A. Being Merle: The Molecular Genetic Background of the Canine Merle Mutation. Genes 2020, 11, 660.

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