GEPHE SUMMARY Print
Entry Status
Published
GepheID
GP00002003
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Drosophila melanogaster - wild-type
Trait State in Taxon B
Drosophila melanogaster - reduced activity
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?
No
GENOTYPIC CHANGE
Generic Gene Name
Hn
Synonyms
bu; CG7399; Dmel\CG7399; DTPH; DTPHu; pah; Pah; PAH; Tph; TpH; TPH; Trh; TRH
Sequence Similarities
Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
GO - Cellular Component
-
UniProtKB
Drosophila melanogaster
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
Insertion Size
1-10 kb
Molecular Details of the Mutation
insertion of the transposable element B104/roo in the exon 3 of the Phenylalanine hydroxylase gene. Its presence alters the Phenylalanine hydroxylase splicing pattern; producing at least two aberrant mRNAs which contain part of the B104 sequence interrupting the coding region. This aberrant splicing is provoked by the use of a cryptic donor site encoded by the B104 3' long terminal repeat in combination with either the gene intron 3 acceptor site or a novel acceptor site generated by the target duplication caused by transposition. One of them; referred as mRNA type 1; encodes a truncated protein that could be predictably non-functional. In mRNA type 2; in spite of a 42 nt insertion; the Phenylalanine hydroxylase reading frame is not altered and it would encode for a protein with 14 extra amino acids which would be able to account for the low enzyme activity detected in this mutant.
Experimental Evidence
Authors
Ruiz-Vázquez P; Silva FJ
Abstract
We report the insertion of the transposable element B104 in the Phenylalanine hydroxylase gene of the Drosophila mutant Henna-recessive 3. Its presence alters the Phenylalanine hydroxylase splicing pattern, producing at least two aberrant mRNAs which contain part of the B104 sequence interrupting the coding region. This aberrant splicing is provoked by the use of a cryptic donor site encoded by the B104 3' long terminal repeat in combination with either the gene intron 3 acceptor site or a novel acceptor site generated by the target duplication caused by transposition. One of them, referred as mRNA type 1, encodes a truncated protein that could be predictably non-functional. In mRNA type 2, in spite of a 42 nt insertion, the Phenylalanine hydroxylase reading frame is not altered and it would encode for a protein with 14 extra amino acids which would be able to account for the low enzyme activity detected in this mutant. These results demonstrated that Henna locus encodes the enzyme phenylalanine hydroxylase providing direct evidence of its participation in pteridine synthesis. Moreover, it constitutes an example of the ability of transposable elements to generate protein variation in populations with the evolutionary consequences that this implies.
Additional References
RELATED GEPHE
EXTERNAL LINKS
COMMENTS
@TE @Splicing - http://flybase.org/reports/FBal0101652
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