tryptophan phenylalanine hydroxylase
Enzymatic activity
Coding,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Ruiz-Vázquez P; Silva FJ (1999)
Aberrant splicing of the Drosophila melanogaster phenylalanine hydroxylase pre-mRNA caused by the in[...]
GP00002003
Hn
P17276
Physiology
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.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
tryptophan phenylalanine hydroxylase
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator