Bm-muted, orthologous to mouse muted and encoding a subunit of the BLOC-1 complex, is responsible for the otm translucent mutation of the silkworm Bombyx mori

Haokun Zhang, Takashi Kiuchi, Lingyan Wang, Munetaka Kawamoto, Yutaka Suzuki, Sumio Sugano, Yutaka Banno, Susumu Katsuma, Toru Shimada

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

“Tanaka's mottled translucent” (otm) is a mutation of the silkworm Bombyx mori that exhibits translucent skin during larval stages. We performed positional cloning of the gene responsible for otm and mapped it to a 364-kb region on chromosome 5 that contains 22 hypothetical protein-coding genes. We performed RNA-seq analysis of the epidermis and fat body of otm larvae and determined that the gene BGIBMGA002619 may be responsible for the otm mutation. BGIBMGA002619 encodes the biosynthesis of lysosome-related organelles complex 1 (BLOC-1) subunit 5, whose ortholog is responsible for the Muted mutant in mouse. Accordingly, we named this gene Bm-muted. We discovered that the expression of Bm-muted in the epidermis and fat body of otm mutants was dramatically suppressed compared with the wild type. We determined the nucleotide sequences of the full-length cDNA and genomic region corresponding to Bm-muted and found that a 538-bp long DNA sequence similar to B. mori transposon Organdy was inserted into the 3′ end of the first intron of Bm-muted in two otm strains. The Bm-muted cDNA of otm mutants lacked exon 2, and accordingly generated a premature stop codon in exon 3. In addition, short interfering RNA (siRNA)-mediated knockdown of this gene caused localized partial translucency of larval skin. These data indicate that the mutation in Bm-muted caused the otm-mutant phenotype. We propose that the insertion of Organdy caused a splicing disorder in Bm-muted in the otm mutant, resulting in a null mutation of Bm-muted. This mutation is likely to cause deficiencies in urate granule formation in epidermal cells that result in translucent larval skin.

Original languageEnglish
Pages (from-to)92-100
Number of pages9
JournalGene
Volume629
DOIs
Publication statusPublished - Sep 20 2017

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Bombyx
Lysosomes
Organelles
Mutation
Fat Body
Epidermis
Skin
Exons
Complementary DNA
Genes
Gene Knockdown Techniques
Chromosomes, Human, Pair 5
Nonsense Codon
Uric Acid
Introns
Small Interfering RNA
Larva
Organism Cloning
RNA
Phenotype

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Bm-muted, orthologous to mouse muted and encoding a subunit of the BLOC-1 complex, is responsible for the otm translucent mutation of the silkworm Bombyx mori. / Zhang, Haokun; Kiuchi, Takashi; Wang, Lingyan; Kawamoto, Munetaka; Suzuki, Yutaka; Sugano, Sumio; Banno, Yutaka; Katsuma, Susumu; Shimada, Toru.

In: Gene, Vol. 629, 20.09.2017, p. 92-100.

Research output: Contribution to journalArticle

Zhang, Haokun ; Kiuchi, Takashi ; Wang, Lingyan ; Kawamoto, Munetaka ; Suzuki, Yutaka ; Sugano, Sumio ; Banno, Yutaka ; Katsuma, Susumu ; Shimada, Toru. / Bm-muted, orthologous to mouse muted and encoding a subunit of the BLOC-1 complex, is responsible for the otm translucent mutation of the silkworm Bombyx mori. In: Gene. 2017 ; Vol. 629. pp. 92-100.
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abstract = "“Tanaka's mottled translucent” (otm) is a mutation of the silkworm Bombyx mori that exhibits translucent skin during larval stages. We performed positional cloning of the gene responsible for otm and mapped it to a 364-kb region on chromosome 5 that contains 22 hypothetical protein-coding genes. We performed RNA-seq analysis of the epidermis and fat body of otm larvae and determined that the gene BGIBMGA002619 may be responsible for the otm mutation. BGIBMGA002619 encodes the biosynthesis of lysosome-related organelles complex 1 (BLOC-1) subunit 5, whose ortholog is responsible for the Muted mutant in mouse. Accordingly, we named this gene Bm-muted. We discovered that the expression of Bm-muted in the epidermis and fat body of otm mutants was dramatically suppressed compared with the wild type. We determined the nucleotide sequences of the full-length cDNA and genomic region corresponding to Bm-muted and found that a 538-bp long DNA sequence similar to B. mori transposon Organdy was inserted into the 3′ end of the first intron of Bm-muted in two otm strains. The Bm-muted cDNA of otm mutants lacked exon 2, and accordingly generated a premature stop codon in exon 3. In addition, short interfering RNA (siRNA)-mediated knockdown of this gene caused localized partial translucency of larval skin. These data indicate that the mutation in Bm-muted caused the otm-mutant phenotype. We propose that the insertion of Organdy caused a splicing disorder in Bm-muted in the otm mutant, resulting in a null mutation of Bm-muted. This mutation is likely to cause deficiencies in urate granule formation in epidermal cells that result in translucent larval skin.",
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T1 - Bm-muted, orthologous to mouse muted and encoding a subunit of the BLOC-1 complex, is responsible for the otm translucent mutation of the silkworm Bombyx mori

AU - Zhang, Haokun

AU - Kiuchi, Takashi

AU - Wang, Lingyan

AU - Kawamoto, Munetaka

AU - Suzuki, Yutaka

AU - Sugano, Sumio

AU - Banno, Yutaka

AU - Katsuma, Susumu

AU - Shimada, Toru

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