TAILIEUCHUNG - Báo cáo khoa học: Molecular defect of isovaleryl-CoA dehydrogenase in the skunk mutant of silkworm, Bombyx mori

The isovaleric acid-emanating silkworm mutantskunk (sku) was first stud-ied over 30 years ago because of its unusual odour and prepupal lethality. Here, we report the identification and characterization of the gene responsi-ble for theskumutant. | ễFEBS Journal Molecular defect of isovaleryl-CoA dehydrogenase in the skunk mutant of silkworm Bombyx mori Kei Urano1 Takaaki Daimon1 Yutaka Banno2 Kazuei Mita3 Tohru Terada4 Kentaro Shimizu4 5 Susumu Katsuma1 and Toru Shimada1 4 1 Department of Agriculturaland EnvironmentalBiology Graduate Schoolof Agriculturaland Life Sciences University of Tokyo Japan 2 Institute of Genetic Resources Graduate Schoolof Bioresource and BioenvironmentalScience Kyushu University Fukuoka Japan 3 Division of Insect Sciences NationalInstitute of AgrobiologicalSciences Tsukuba Ibaraki Japan 4 AgriculturalBioinformatics Research Unit Graduate Schoolof Agriculturaland Life Sciences University of Tokyo Japan 5 Department of Biotechnology Graduate Schoolof Agriculturaland Life Sciences University of Tokyo Japan Keywords Bombyx mori branched-chain amino acid isovaleric acidemia isovaleryl-CoA dehydrogenase responsible gene Correspondence T. Shimada Laboratory of Insect Genetics and Bioscience Department of Agricultural and EnvironmentalBiology Graduate School of Agriculturaland Life Sciences University of Tokyo Yayoi 1-1-1 Bunkyo-ku Tokyo 113-8657 Japan Fax 81 3 5841 8011 Tel 81 3 5841 8124 E-mail shimada@ Received 2 March 2010 revised 1 August 2010 accepted 25 August 2010 doi The isovaleric acid-emanating silkworm mutant skunk sku was first studied over 30 years ago because of its unusual odour and prepupal lethality. Here we report the identification and characterization of the gene responsible for the sku mutant. Because of its specific features and symptoms similar to human isovaleryl-CoA dehydrogenase IVD deficiency also known as isovaleric acidaemia IVD dysfunction in silkworms was predicted to be responsible for the phenotype of the sku mutant. Linkage analysis revealed that the silkworm IVD gene BmlVD was closely linked to the odorous phenotype as expected and a single amino acid substitution G376V was found in BmIVD of the sku .

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