- Title
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Genome-Wide Linkage, Exome Sequencing and Functional Analyses Identify ABCB6 as the Pathogenic Gene of Dyschromatosis Universalis Hereditaria
- Authors
- Liu, H., Li, Y., Hung, K.K., Wang, N., Wang, C., Chen, X., Sheng, D., Fu, X., See, K., Foo, J.N., Low, H., Liany, H., Irwan, I.D., Liu, J., Yang, B., Chen, M., Yu, Y., Yu, G., Niu, G., You, J., Zhou, Y., Ma, S., Wang, T., Yan, X., Goh, B.K., Common, J.E., Lane, B.E., Sun, Y., Zhou, G., Lu, X., Wang, Z., Tian, H., Cao, Y., Chen, S., Liu, Q., Liu, J., and Zhang, F.
- Source
- Full text @ PLoS One
Phenotypes of the microinjected zebrafish. Morpholinos against exon 6 and exon 8 of zABCB6 and wildtype zABCB6 mRNA transcript (in case of rescue) were designed and injected into one- to two-cell stage embryos. No obvious phenotypic changes were observed in the morphants (C and D) and rescued (E and F) embryos after 5 days (5pdf) with reference to their uninjected counterparts (A and B). PHENOTYPE:
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Number of mature melanocytes in the head region in the morphants and rescued embryos (5 dpf). Immobilized embryos were dorsally oriented and the number of mature melanocytes was counted in the defined region of the head. Reduction in melanocyte number was observed in both exon 6- and exon 8-morphants (B and E). Co-injection of wildtype hABCB6 mRNA transcript significantly rescued the loss of melanocyte phenotype by increasing the number of mature melanocytes (C and F). PHENOTYPE:
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