A 25 bp-long insertional mutation in the BmVarp gene causes the waxy translucent skin of the silkworm,Bombyx mori |
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| Authors: | Katsuhiko Ito Susumu Katsuma Kimiko Yamamoto Keiko Kadono-Okuda Kazuei Mita Toru Shimada |
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| Institution: | 1. Department of Agricultural and Environmental Biology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Yayoi 1-1-1, Bunkyo-ku, Tokyo 113-8657, Japan;2. Division of Insect Sciences, National Institute of Agrobiological Sciences, 1-2 Owashi, Tsukuba, Ibaraki 305-8634, Japan;1. Department for Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands;2. Comprehensive Cancer Centre The Netherlands, Nijmegen, The Netherlands;3. Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands;4. Department of Endocrinology, Radboud University Medical Center, Nijmegen, The Netherlands;5. Department of Urology, Radboud University Medical Center, Nijmegen, The Netherlands;6. Department of Dermatology, Radboud University Medical Center, Nijmegen, The Netherlands;1. Department of Agricultural and Environmental Biology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Bunkyo-ku, Tokyo, Japan;2. Graduate School of Bioresource and Bioenvironmental Science, Kyushu University, Fukuoka, Japan;1. State Key Laboratory of Silkworm Genome Biology, Southwest University, 216 Tiansheng Road, Chongqing 400715, China;2. Key Laboratory of Separation Science for Analytical Chemistry, Dalian Institute of Chemical Physics, Chinese Academy of Sciences, 457 Zhongshan Road, Dalian 116023, China;1. State Key Laboratory of Silkworm Genome Biology, Southwest University, Chongqing 400716, China;2. Chongqing Engineering and Technology Research Center for Novel Silk Materials, Chongqing 400716, China;3. College of Biotechnology, Southwest University, Chongqing 400716, China |
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| Abstract: | In Bombyx mori, there are more than 35 mutant strains whose larval skin color is transparent. The waxy translucent strain ow is one of the oily mutants which lack accumulation of uric acid in the epidermis. Here we performed positional cloning of the ow gene using the Bombyx draft genome sequence. For fine structure mapping, we succeeded to narrow the ow linked region to approximately 150 kb, and identified the ow candidate gene by annotation analysis and DNA sequencing. The complete cDNA sequences of the ow gene from wild-type strains were 3501 bp-long and potentially encoded a protein of 920 amino acids. We found a 25 bp-long insertion in this gene in the ow mutant strain, resulting in a frame-shift mutation and generation of a premature stop codon. A BLAST search revealed that this protein had high homology to Varp, a recently identified protein containing a vacuolar sorting protein 9 domain and ankyrin repeats, and we termed the silkworm protein BmVarp. Varp has been shown to regulate endosome dynamics, suggesting that BmVarp may play an important role in the incorporation and/or accumulation of uric acid in the epidermis. |
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