A fungal perspective on human inborn errors of metabolism: alkaptonuria and beyond.
Crucial for the establishment and development of biochemical genetics as a self-standing discipline was Beadle and Tatum's choice of Neurospora crassa as experimental organism some 60 years ago. Although Garrod's insights on biochemical genetics and his astonishingly modern concepts of biochemical individuality and susceptibility to disease had been ignored by their contemporaries, Beadle acknowledged on several occasions how close Garrod had come to the "one-gene-one-enzyme" hypothesis. In an unexpected turn of events, several genes involved in human inborn errors of metabolism, including the gene for Garrod's favorite disease, alkaptonuria, have been characterized by exploitation of the experimental advantages of another mold, Aspergillus nidulans, which shares with N. crassa the experimental advantages that prompted pioneers of biochemical genetics to use them: rapid growth, facile genetic manipulation, and an environment (the composition of the growth medium) that can be manipulated à la carte.
Peñalva
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MA
Centro de Investigaciones Biológicas del CSIC, Velázquez 144, Madrid 28006, Spain.
D000474:Alkaptonuria / Q000235:genetics* / Q000378:metabolism; D000818:Animals; D001233:Aspergillus nidulans / Q000201:enzymology / Q000235:genetics*; D005800:Genes, Fungal; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D008956:Models, Chemical; D009154:Mutation; D010649:Phenylalanine / Q000378:metabolism; D014443:Tyrosine / Q000378:metabolism
D014443:Tyrosine; D010649:Phenylalanine