A frameshift mutation in the melanophilin gene causes the dilute coat colour in rabbit (Oryctolagus cuniculus) breeds. (10th December 2013)

• Record Type: Journal Article
• Authors: Fontanesi, L.; Scotti, E.; Allain, D.; Dall'Olio, S.
• Is Part Of: Animal genetics. Volume 45:Number 2(2014:Apr.)
• Page Start: 248
• Page End: 255
• Publication Date: 2013-12-10
• Subjects: Animal genetics -- Periodicals; 572.8
• DOI: 10.1111/age.12104
• Languages: English
• ISSNs: 0268-9146

Abstract

<abstract abstract-type="main" id="age12104-abs-0001"> <title>Summary</title> <p>In rabbit, the <italic>dilute</italic> locus is determined by a recessive mutated allele (<italic>d</italic>) that causes the dilution of both eumelanic and pheomelanic pigmentations. In mice, similar phenotypes are determined by mutations in the <italic>myosin VA</italic>, <italic> Rab27a</italic> and <italic>melanophilin</italic> (<italic>MLPH</italic>) genes. In this study, we investigated the rabbit <italic>MLPH</italic> gene and showed that a mutation in this gene appears responsible for the dilute coat colour in this species. Checkered Giant F1 families segregating for black and grey (diluted or blue) coat colour were first genotyped for a complex indel in intron 1 of the <italic>MLPH</italic> gene that was completely associated with the coat colour phenotype (<italic>θ </italic>= 0.00; LOD = 4.82). Then, we sequenced 6357 bp of the <italic>MLPH</italic> gene in 18 rabbits of different coat colours, including blue animals. A total of 165 polymorphisms were identified: 137 were in non‐coding regions and 28 were in coding exons. One of them was a frameshift deletion in exon 5. Genotyping the half‐sib families confirmed the complete cosegregation of this mutation with the blue coat colour. The mutation was analysed in 198 rabbits of 23 breeds. All Blue Vienna and all other blue/grey/ash rabbits in other breeds (Californian, Castor Rex, Checkered Giant, English Spot, Fairy Marburg and Fairy Pearly) were homozygous for this deletion. The identification of <italic>MLPH</italic> as the responsible gene for the <italic>dilute</italic> locus in rabbit provides a natural animal model for human Griscelli syndrome type 3 and a new mutant to study the role of this gene on pigmentation.</p> </abstract>