Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria

• Main Authors: Liu H., Li Y., Hung K.K.H., 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.A., Lane B.E., Sun Y., Zhou G., Lu X., Wang Z., Tian H., Cao Y., Chen S., Liu Q., Zhang F.
• Other Authors: PATHOLOGY
• Format: Article
• Published: 2019
• Subjects: ABCB6 gene; animal experiment; article; Chinese; clinical article; coloboma; controlled study; dyschromatosis universalis hereditaria; embryo; exome; gene; gene expression regulation; gene function; gene mutation; gene sequence; genetic analysis; genetic association; genetic disorder; genetic linkage; genome analysis; human; human cell; immunohistochemistry; melanocyte; mutational analysis; nonhuman; nucleotide sequence; phenotype; real time polymerase chain reaction; sequence analysis; single nucleotide polymorphism; skin pigmentation; visual system examination; zebra fish; amino acid sequence; animal; chromosome map; embryology; family health; female; genetic predisposition; genetics; male; metabolism; missense mutation; molecular genetics; pathology; pedigree; Pigmentation Disorders; procedures; reverse transcription polymerase chain reaction; sequence homology; skin; skin disease; ABC transporter; ABCB6 protein, human; Amino Acid Sequence; Animals; ATP-Binding Cassette Transporters; Base Sequence; Chromosome Mapping; DNA Mutational Analysis; Exome; Family Health; Female; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Immunohistochemistry; Lod Score; Male; Melanocytes; Molecular Sequence Data; Mutation, Missense; Pedigree; Reverse Transcriptase Polymerase Chain Reaction; Sequence Homology, Amino Acid; Sequence Homology, Nucleic Acid; Skin; Skin Diseases, Genetic; Zebrafish
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/161431
• Institution: National University of Singapore

10.1371/journal.pone.0087250