GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002111
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Drosophila melanogaster
Trait State in Taxon B
Drosophila melanogaster
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
fruit fly
Synonyms
Sophophora melanogaster; fruit fly; Drosophila melanogaster Meigen, 1830; Sophophora melanogaster (Meigen, 1830); Drosophila melangaster
Rank
species
Lineage
Show more ... Brachycera; Muscomorpha; Eremoneura; Cyclorrhapha; Schizophora; Acalyptratae; Ephydroidea; Drosophilidae; Drosophilinae; Drosophilini; Drosophila; Sophophora; melanogaster group; melanogaster subgroup
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
fruit fly
Synonyms
Sophophora melanogaster; fruit fly; Drosophila melanogaster Meigen, 1830; Sophophora melanogaster (Meigen, 1830); Drosophila melangaster
Rank
species
Lineage
Show more ... Brachycera; Muscomorpha; Eremoneura; Cyclorrhapha; Schizophora; Acalyptratae; Ephydroidea; Drosophilidae; Drosophilinae; Drosophilini; Drosophila; Sophophora; melanogaster group; melanogaster subgroup
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
line A3 - Bloomington 3844
GENOTYPIC CHANGE
Generic Gene Name
Drsl5
Synonyms
BcDNA:GH09576; CG10812; Dmel\CG10812; dmy5; Dro-G; dro5; Dro5; Drs-lG; Dmel_CG10812
Sequence Similarities
-
GO - Molecular Function
-
UniProtKB
Drosophila melanogaster
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
Insertion Size
1-10 kb
Molecular Details of the Mutation
Duplication of the gene and insertion of a 4993-bp region (which comes from part of a neighboring gene). Associated with a >1000-fold expression increase of the gene.
Experimental Evidence
Authors
Chakraborty M; Emerson JJ; Macdonald SJ; Long AD
Abstract
It has been hypothesized that individually-rare hidden structural variants (SVs) could account for a significant fraction of variation in complex traits. Here we identified more than 20,000 euchromatic SVs from 14 Drosophila melanogaster genome assemblies, of which ~40% are invisible to high specificity short-read genotyping approaches. SVs are common, with 31.5% of diploid individuals harboring a SV in genes larger than 5kb, and 24% harboring multiple SVs in genes larger than 10kb. SV minor allele frequencies are rarer than amino acid polymorphisms, suggesting that SVs are more deleterious. We show that a number of functionally important genes harbor previously hidden structural variants likely to affect complex phenotypes. Furthermore, SVs are overrepresented in candidate genes associated with quantitative trait loci mapped using the Drosophila Synthetic Population Resource. We conclude that SVs are ubiquitous, frequently constitute a heterogeneous allelic series, and can act as rare alleles of large effect.
Additional References
EXTERNAL LINKS
COMMENTS
No phenotypic effect described besides the increase of expression of the gene. Corresponding protein known to have antifungal activity. Insertion of a Tirant TE is also found in another D. melanogaster line at the Dsl5 locus; but its effect on gene expression and other phenotypes has not been reported.
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