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Mutation in the abcb7 gene causes abnormal iron and fatty acid metabolism in developing medaka fish
Author(s) -
Miyake Akimitsu,
Higashijima Shinichi,
Kobayashi Daisuke,
Narita Takanori,
Jindo Tomoko,
Setiamarga Davin H. E.,
Ohisa Satoshi,
Orihara Nobuaki,
Hibiya Kenta,
Konno Sayaka,
Sakaguchi Sae,
Horie Kyohei,
Imai Yoshiyuki,
Naruse Kiyoshi,
Kudo Akira,
Takeda Hiroyuki
Publication year - 2008
Publication title -
development, growth and differentiation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.864
H-Index - 66
eISSN - 1440-169X
pISSN - 0012-1592
DOI - 10.1111/j.1440-169x.2008.01068.x
Subject(s) - oryzias , biology , mutant , positional cloning , gene , lipid metabolism , mutagenesis , mutation , fatty acid metabolism , genetics , biochemistry , microbiology and biotechnology
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.