FN Archimer Export Format PT J TI Tracing key genes associated with the Pinctada margaritifera albino phenotype from juvenile to cultured pearl harvest stages using multiple whole transcriptome sequencing BT AF Auffret, Pauline Le Luyer, Jeremy Sham Koua, Manaarii Quillien, Virgile Ky, Chin-Long AS 1:1;2:1;3:1;4:1,2;5:1,3; FF 1:PDG-RBE-RMPF;2:PDG-RBE-RMPF;3:PDG-RBE-RMPF;4:PDG-RBE-PFOM-LPI;5:PDG-RBE-IHPE; C1 Ifremer, UMR EIO 241, Centre du Pacifique, BP 49, 98719, Taravao, Tahiti, Polynéise française, France Ifremer, UMR LEMAR UBO CNRS Ifremer IRD 6539, ZI Pointe Diable CS 10070, F-29280, Plouzane, France IHPE, Université de Montpellier, CNRS, Ifremer, Université de Perpignan Via Domitia, F-34090, Montpellier, France C2 IFREMER, FRANCE IFREMER, FRANCE IFREMER, FRANCE SI TAHITI BREST MONTPELLIER SE PDG-RBE-RMPF PDG-RBE-PFOM-LPI PDG-RBE-IHPE UM LEMAR IHPE EIO IN WOS Ifremer UMR DOAJ IF 3.969 TC 8 UR https://archimer.ifremer.fr/doc/00652/76420/77477.pdf https://archimer.ifremer.fr/doc/00652/76420/77478.xlsx https://archimer.ifremer.fr/doc/00652/76420/77479.xlsx https://archimer.ifremer.fr/doc/00652/76420/77480.xlsx https://archimer.ifremer.fr/doc/00652/76420/77481.docx https://archimer.ifremer.fr/doc/00652/76420/77482.xlsx https://archimer.ifremer.fr/doc/00652/76420/77483.xlsx https://archimer.ifremer.fr/doc/00652/76420/77484.xlsx LA English DT Article DE ;Pinctada margaritifera;Albinism;Pigmentation;RNA-seq;Notch signaling pathway;Tyrosinase;Biomineralization AB 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. PY 2020 PD SEP SO Bmc Genomics SN 1471-2164 PU Springer Science and Business Media LLC VL 21 IS 1 UT 000576316600001 DI 10.1186/s12864-020-07015-w ID 76420 ER EF