Short Communications Incorporating Mouse Genome Mammalian Genome 10, 68–70 (1999). © Springer-Verlag New York Inc. 1999 1 1 1 2 1 W. Kress, S.R. Schmidt, B. Halliger-Keller, X. Montagutelli, C.R. Mu ¨ ller Department of Human Genetics, University of Wu ¨ rzburg, Biozentrum, Am Hubland, D-97074 Wu ¨ rzburg, Germany Unite´de Ge ´ne ´tique des Mammife `res, Institut Pasteur, F-75015 Paris, France Received: 29 June 1998 / Accepted: 20 August 1998 Alkaptonuria is the classical metabolic disorder in humans. At the not shown), indicating that no stable protein is being produced in dawn of modern genetics, the pathognomonic urina nigra that is the mutant. excreted by the patients led A.E. Garrod to hypothesize on a spe- Messenger RNA was prepared from livers of aku/aku and cific block in one of the (bio)chemical steps required for the deg- wild-type mice and reverse transcribed by RT-PCR. The complete radation of phenylalanine and tyrosine. The compound had been HGO-cDNA was amplified in three segments. For the 38 part of identified earlier as a derivative of tyrosine, 2,5 dihydroxyphenyl- the gene, a truncated product was obtained corresponding to a acetic acid (4 homogentisic acid, HGA). From the high rate of deletion of about
Mammalian Genome – Springer Journals
Published: Jan 1, 1999
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