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Communication Dans Un Congrès Année : 2016

The MLPH expression is decreased in rabbits owning a dilution of coat colour

Résumé

Coat colour dilution is a specific pigmentation phenotype which segregates in many mammalian species. This trait affects both eumelanin and pheomelanin synthesis and corresponds to a dilution of wild type pigments. In human, mutations within genes encoding for the proteins of the tripartite complex (as example the melanophilin, MLPH), cause Griscelli syndromes characterized by a dilution of the hair colour. In rabbit, the “Dilute” locus is determined by a major gene with an autosomal recessive genetic determinism. Gene candidate approaches focused on the MLPH gene highlighted 2 distinct polymorphisms associated with the “Dilute” phenotype in rabbits. Both mutations located either at a splice acceptor site or into the exon 6 of the gene might affect the stability of MLPH messengers. To evaluate the effect of one of the two mutations, we quantified the MLPH transcripts levels in skin samples of animals owning a dilution of coat colour or a wild type phenotype. Castor and Chinchilla breeds in which the interest phenotype exists were considered; unrelated 16 “Dilute” rabbits (8 of each strain) and 16 wild type animals (8 of each breed) were selected. First of all, we genotyped the whole dataset for the 1bp non-synonymous deletion. All “Dilute” rabbits are homozygous MLPHd/d while wild type individuals are homozygous for the reference allele MLPHwt/wt. Our results confirmed this polymorphism as the potential causal mutation of the coat colour dilution. Then, the MLPH expression was measured to reinforce the involvement of this gene and this specific mutation into the “Dilute” phenotype. In both breeds, a drastic and significant decreased of the MLPH transcripts levels was shown in rabbits MLPHd/d and owning a “Dilute” phenotype (p-values ranging from 10-03 to 10-06). Altogether, our data strongly support the importance of the deletion identified within the MLPH gene and brought new insights into the coat colour dilution trait.
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Dates et versions

hal-02741723 , version 1 (03-06-2020)

Identifiants

  • HAL Id : hal-02741723 , version 1
  • PRODINRA : 421869

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Julie Demars, Nathalie Iannuccelli, Valerio Joe Utzeri, Luca Fontanesi, Daniel Allain. The MLPH expression is decreased in rabbits owning a dilution of coat colour. 11. World Rabbit Congress, Jun 2016, Qingdao, China. 417 p. ⟨hal-02741723⟩
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