NDLI: A homolog of the human Hermansky–Pudluck syndrome-5 (HPS5) gene is responsible for the oa larval translucent mutants in the silkworm, Bombyx mori

Content Provider	Springer Nature Link
Author	Fujii, T. Ban, Y. Abe, H. Katsuma, S. Shimada, T.
Copyright Year	2012
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.
Starting Page	463
Ending Page	468
Page Count	6
File Format	PDF
ISSN	00166707
Journal	Genetica
Volume Number	140
Issue Number	10-12
e-ISSN	15736857
Language	English
Publisher	Springer Netherlands
Publisher Date	2012-12-19
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Uric acid granule Hermansky–Pudluck syndrome Biogenesis of lysosome-related organelles complex (BLOC) Pigmentation Positional cloning Life Sciences Animal Genetics and Genomics Plant Genetics & Genomics Human Genetics Microbial Genetics and Genomics
Content Type	Text
Resource Type	Article
Subject	Genetics Plant Science Medicine Animal Science and Zoology Insect Science

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