Fungal metabolic model for tyrosinemia type 3: molecular characterization of a gene encoding a 4-hydroxy-phenyl pyruvate dioxygenase from Aspergillus nidulans.
Mutations in the human HPD gene (encoding 4-hydroxyphenylpyruvic acid dioxygenase) cause hereditary tyrosinemia type 3 (HT3). We deleted the Aspergillus nidulans homologue (hpdA). We showed that the mutant strain is not able to grow in the presence of phenylalanine and that it accumulates increased concentrations of tyrosine and 4-hydroxyphenylpyruvic acid, mimicking the human HT3 phenotype.
da Silva Ferreira
Márcia Eliana
ME
Faculdade de Ciências Farmacêuticas de Ribeirão Preto, Universidade de São Paulo, São Paulo, Brazil.
Savoldi
Marcela
M
Sueli Bonato
Pierina
P
Goldman
Maria Helena S
MH
Goldman
Gustavo H
GH
D015111:4-Hydroxyphenylpyruvate Dioxygenase / Q000235:genetics*; D001233:Aspergillus nidulans / Q000201:enzymology* / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D008954:Models, Biological; D010649:Phenylalanine / Q000494:pharmacology; D010667:Phenylpyruvic Acids / Q000032:analysis; D014443:Tyrosine / Q000032:analysis; D020176:Tyrosinemias / Q000201:enzymology*
D010667:Phenylpyruvic Acids; C010590:4-hydroxyphenylpyruvic acid; D014443:Tyrosine; D010649:Phenylalanine; D015111:4-Hydroxyphenylpyruvate Dioxygenase