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Background  Albino mutations are commonly observed in the animal kingdom, including in bivalves. In the black-lipped pearl oyster  Pinctada margaritifera,  albino specimens are characterized by total or partial absence of colouration resulting in typical white shell phenotype expression. The relationship of shell colour with resulting cultured pearl colour is of great economic interest in  P. margaritifera,  on which a pearl industry is based. Hence, the albino phenotype provides a useful way to examine the molecular mechanisms underlying pigmentation.    Results  Whole transcriptome RNA-sequencing analysis comparing albino and black wild-type phenotypes at three stages over the culture cycle of  P. margaritifera  revealed a total of 1606, 798 and 187 differentially expressed genes in whole juvenile, adult mantle and pearl sac tissue, respectively. These genes were found to be involved in five main molecular pathways, tightly linked to known pigmentation pathways: melanogenesis, calcium signalling pathway, Notch signalling pathway, pigment transport and biomineralization. Additionally, significant phenotype-associated SNPs were selected ( N  = 159), including two located in the  Pif  biomineralization gene, which codes for nacre formation. Interestingly, significantly different transcript splicing was detected between juvenile ( N  = 1366) and adult mantle tissue ( N  = 313) in, e.g., the tyrosinase  Tyr-1  gene, which showed more complex regulation in mantle, and the Notch1 encoding gene, which was upregulated in albino juveniles.    Conclusion  This multiple RNA-seq approach provided new knowledge about genes associated with the  P. margaritifera  albino phenotype, highlighting: 1) new molecular pathways, such as the Notch signalling pathway in pigmentation, 2) associated SNP markers with biomineraliszation gene of interest like  Pif  for marker-assisted selection and prevention of inbreeding, and 3) alternative gene splicing for melanin biosynthesis implicating tyrosinase.

bmc genomics

Tracing key genes associated with the Pinctada margaritifera albino phenotype from juvenile to cultured pearl harvest stages using multiple whole transcriptome sequencing