title: Mutation in the abcb7 gene causes abnormal iron and fatty acid metabolism in developing medaka fish.
abstract: The medaka fish (Oryzias latipes) is an emerging model organism for which a variety of unique developmental mutants have now been generated. Our recent mutagenesis screening of the medaka isolated a unique mutant that develops a fatty liver at larval stages. Positional cloning identified the responsible gene as medaka abcb7. Abcb7, a mitochondrial ABC (ATP binding cassette) half-transporter, has been implicated in iron metabolism. Recently, human Abcb7 was found to be mutated in X-linked sideroblastic anemia with cerebellar ataxia (XLSA/A). The homozygous medaka mutant exhibits abnormal iron metabolism in erythrocytes and accumulation of lipid in the liver. Microarray and in situ hybridization analyses demonstrated that the expression of genes involved in iron and lipid metabolisms are both affected in the mutant liver, suggesting novel roles of Abcb7 in the development of physiologically functional liver. The medaka abcb7 mutant thus could provide insights into the pathogenesis of XLSA/A as well as the normal function of the gene.
authors.affiliation: Department of Biological Sciences, Graduate School of Science, University of Tokyo, Bunkyo-ku, Tokyo, Japan.
authors.forename: Akimitsu
authors.initials: A
authors.lastname: Miyake
authors.forename: Shin-ichi
authors.initials: S
authors.lastname: Higashijima
authors.forename: Daisuke
authors.initials: D
authors.lastname: Kobayashi
authors.forename: Takanori
authors.initials: T
authors.lastname: Narita
authors.forename: Tomoko
authors.initials: T
authors.lastname: Jindo
authors.forename: Davin H E
authors.initials: DH
authors.lastname: Setiamarga
authors.forename: Satoshi
authors.initials: S
authors.lastname: Ohisa
authors.forename: Nobuaki
authors.initials: N
authors.lastname: Orihara
authors.forename: Kenta
authors.initials: K
authors.lastname: Hibiya
authors.forename: Sayaka
authors.initials: S
authors.lastname: Konno
authors.forename: Sae
authors.initials: S
authors.lastname: Sakaguchi
authors.forename: Kyohei
authors.initials: K
authors.lastname: Horie
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Imai
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Naruse
authors.forename: Akira
authors.initials: A
authors.lastname: Kudo
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Takeda
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000818:Animals; D005227:Fatty Acids / Q000378:metabolism*; D005234:Fatty Liver / Q000196:embryology / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D019266:Iron, Dietary / Q000378:metabolism*; D008099:Liver / Q000196:embryology / Q000378:metabolism; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D009990:Oryzias / Q000196:embryology* / Q000235:genetics / Q000378:metabolism*
chemical_list: C113037:ABCB7 protein, human; D018528:ATP-Binding Cassette Transporters; D005227:Fatty Acids; D019266:Iron, Dietary