Abstract
Coat color dilution turns black coat color to blue and red color to cream and is a characteristic in many mammalian species. Matings among Netherland Dwarf, Loh, and Lionhead Dwarf rabbits over two generations gave evidence for a monogenic autosomal recessive inheritance of coat colour dilution. Histological analyses showed non-uniformly distributed, large, agglomerating melanin granules in the hair bulbs of coat color diluted rabbits. We sequenced the cDNA of MLPH in two dilute and one black rabbit for polymorphism detection. In both color diluted rabbits, skipping of exons 3 and 4 was present resulting in altered amino acids at p.QGL[37-39]QWA and a premature stop codon at p.K40*. Sequencing of genomic DNA revealed a c.111-5C>A splice acceptor mutation within the polypyrimidine tract of intron 2 within MLPH. This mutation presumably causes skipping of exons 3 and 4. In 14/15 dilute rabbits, the c.111-5C>A mutation was homozygous and in a further dilute rabbit, heterozygous and in combination with a homozygous frame shift mutation within exon 6 (c.585delG). In conclusion, our results demonstrated a colour dilution associated MLPH splice variant causing a strongly truncated protein (p.Q37QfsX4). An involvement of further MLPH-associated mutations needs further investigations.
Highlights
Coat color dilution in rabbits affects eumelanin as well as pheomelanin
No abnormal clinical findings were detected associated with this phenotype, neither serious clinical defects nor less severe signs like color dilution alopecia or comedo formations
The oldest rabbit showing the dilution phenotype was more than three years of age at examination
Summary
Coat color dilution in rabbits affects eumelanin as well as pheomelanin. A dilution of eumelanin in black and brown coat color leads to blue and cream-brown, respectively, while a dilution of pheomelanin in yellow coat color leads to creamyellow [1]. Dilution of the coat color is seen in dogs where colordilution can be accompanied by alopecia [8,9,10]. This defect causes poor quality of the hair coat and hair re-growth to the point of progressive and extensive hair loss as well as comedo formation [9]. It was not reported for the dilution phenotype in any of the other species mentioned above.
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