RRC ID 21115
著者 Fujii T, Banno Y, Abe H, Katsuma S, Shimada T.
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.
ジャーナル Genetica
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.
巻・号 140(10-12)
ページ 463-8
公開日 2012-12-1
DOI 10.1007/s10709-012-9694-1
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。
PMID 23250771
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
リソース情報
カイコ o56 o57 l32 g60