RRC ID |
50400
|
Author |
Zhang H, Kiuchi T, Wang L, Kawamoto M, Suzuki Y, Sugano S, Banno Y, Katsuma S, Shimada T.
|
Title |
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.
|
Journal |
Gene
|
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.
|
Volume |
629
|
Pages |
92-100
|
Published |
2017-9-20
|
DOI |
10.1016/j.gene.2017.07.071
|
PII |
S0378-1119(17)30606-6
|
PMID |
28768207
|
MeSH |
Animals
Bombyx / genetics*
Bombyx / growth & development*
Carrier Proteins / metabolism
Cloning, Molecular
Insect Proteins / genetics*
Insect Proteins / metabolism
Multiprotein Complexes / metabolism
Mutation
RNA Interference
Uric Acid / metabolism
Vesicular Transport Proteins / genetics*
Vesicular Transport Proteins / metabolism
|
IF |
2.984
|
Times Cited |
9
|
Resource |
Silkworms |
o26
w05 |