RRC ID |
21115
|
著者 |
Fujii T, Banno Y, Abe H, Katsuma S, Shimada T.
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タイトル |
A homolog of the human Hermansky-Pudluck syndrome-5 (HPS5) gene is responsible for the oa larval translucent mutants in the silkworm, Bombyx mori.
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ジャーナル |
Genetica
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Abstract |
Normally, many granules containing uric acid accumulate in the larval integument of the silkworm, Bombyx mori. These uric acid granules cause the wild-type larval integument to be white or opaque, and the absence of these granules results in a translucent integument. Although about 30 B. mori loci governing larval translucency have been mapped, most have not been molecularly identified yet. Here, based on a structural analysis of a deletion of chromosome 14 that included the oa (aojyuku translucent) locus, we concluded that the BmHPS5 encoding a Bombyx homolog of the HPS5 subunit of biogenesis of lysosome-related organelles complex-2 is the candidate for the oa locus. Nucleotide sequence analyses of cDNAs and genomic DNAs in three mutant strains, each of which were homozygous for the respective allele of the oa locus (oa, oa ( 2 ), and oa ( v )), revealed that each mutant strain has a frame shift or a premature stop codon (caused by deletion or nonsense mutation, respectively) in the BmHPS5 gene. Our findings indicate that some genes that cause the translucent phenotype in Bombyx, some HPS-associated genes in humans, and some genes that cause mutant eye color phenotypes in Drosophila are homologous and participate in an evolutionarily conserved mechanism that leads to biogenesis of lysosome-related organelles.
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巻・号 |
140(10-12)
|
ページ |
463-8
|
公開日 |
2012-12-1
|
DOI |
10.1007/s10709-012-9694-1
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解説 |
oa(青熟油)の原因遺伝子はBmHPS5である。BmHPS5はヒトのヘルマンスキーパドラック症候群の原因遺伝子の一つであるHPS5のカイコホモログである。o56系統(oa/oa)では、BmHPS5のエクソン4の内部に4bpの欠失が存在する。o57系統(oa2/oa2)では、エクソン4の内部に1bpの欠失が存在する。l32系統(oav/oav)では、エクソン5の内部に中途終始コドンを生じさせる点突然変異が存在する。
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PMID |
23250771
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MeSH |
Alleles
Animals
Bombyx / genetics*
Carrier Proteins / genetics*
Chromosomes / genetics
Cloning, Molecular
DNA, Complementary / genetics
Drosophila / genetics
Gene Deletion
Genetic Loci
Genetic Markers
Humans
Insect Proteins / genetics*
Larva / genetics
Phenotype
Pigmentation / genetics
Sequence Analysis, DNA
Skin / chemistry
|
IF |
1.186
|
引用数 |
18
|
WOS 分野
|
GENETICS & HEREDITY
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リソース情報 |
カイコ |
o56
o57
l32
g60 |