GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000145
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Bombyx mori - WT
Trait State in Taxon B
Bombyx mori - melanism (mln) strains
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
domestic silkworm
Synonyms
domestic silkworm; silk moth; silkworm; Bombyx mori Linnaeus, 1758
Rank
species
Lineage
Show more ... xapoda; Insecta; Dicondylia; Pterygota; Neoptera; Holometabola; Amphiesmenoptera; Lepidoptera; Glossata; Neolepidoptera; Heteroneura; Ditrysia; Obtectomera; Bombycoidea; Bombycidae; Bombycinae; Bombyx
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
domestic silkworm
Synonyms
domestic silkworm; silk moth; silkworm; Bombyx mori Linnaeus, 1758
Rank
species
Lineage
Show more ... xapoda; Insecta; Dicondylia; Pterygota; Neoptera; Holometabola; Amphiesmenoptera; Lepidoptera; Glossata; Neolepidoptera; Heteroneura; Ditrysia; Obtectomera; Bombycoidea; Bombycidae; Bombycinae; Bombyx
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Bombyx mori - melanism (mln) strains
GENOTYPIC CHANGE
Generic Gene Name
Aanat
Synonyms
AANAT
String
-
Sequence Similarities
-
GO - Biological Process
-
GO - Cellular Component
-
UniProtKB
Bombyx mori
GenebankID or UniProtKB
Presumptive Null
Yes
Molecular Type
Aberration Type
Deletion Size
100-999 bp
Molecular Details of the Mutation
126-bp deletion overlapping with end of exon 4 and resulting in misplicing
Experimental Evidence
Authors
Zhan S; Guo Q; Li M; Li M; Li J; Miao X; Huang Y
Abstract
The pigmentation of insects has served as an excellent model for the study of morphological trait evolution and developmental biology. The melanism (mln) mutant of the silkworm Bombyx mori is notable for its strong black coloration, phenotypic differences between larval and adult stages, and its widespread use in strain selection. Here, we report the genetic and molecular bases for the formation of the mln morphological trait. Fine mapping revealed that an arylalkylamine N-acetyltransferase (AANAT) gene co-segregates with the black coloration patterns. Coding sequence variations and expression profiles of AANAT are also associated with the melanic phenotypes. A 126 bp deletion in the mln genome causes two alternatively spliced transcripts with premature terminations. An enzymatic assay demonstrated the absolute loss of AANAT activity in the mutant proteins. We also performed RNA interference of AANAT in wild-type pupae and observed a significant proportion of adults with ectopic black coloration. These findings indicate that functional deletion of this AANAT gene accounts for the mln mutation in silkworm. AANAT is also involved in a parallel melanin synthesis pathway in which ebony plays a role, whereas no pigmentation defect has been reported in the Drosophila model or in other insects to date. To the best of our knowledge, the mln mutation is the first characterized mutant phenotype of insects with AANAT, and this result contributes to our understanding of dopamine metabolism and melanin pattern polymorphisms.
COMMENTS
@Splicing
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