title: The human gene for alkaptonuria (AKU) maps to chromosome 3q.
abstract: Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity. Patients excrete large amounts of homogentisic acid in their urine and a black ochronotic pigment is deposited in their cartilage and collagenous tissues. Ochronosis is the predominant clinical complication of the disease leading to ochronotic arthropathy, dark urine, pigment changes of the skin, and other clinical features. A mutation causing alkaptonuria in the mouse has mapped to chromosome 16. Considering conserved synteny, we were able to map the human gene to chromosome 3q in six alkaptonuria pedigrees of Slovak origin.
authors.affiliation: Department of Human Genetics, University of Würzburg, Federal Republic of Germany.
authors.forename: S
authors.initials: S
authors.lastname: Janocha
authors.forename: W
authors.initials: W
authors.lastname: Wolz
authors.forename: S
authors.initials: S
authors.lastname: Srsen
authors.forename: K
authors.initials: K
authors.lastname: Srsnova
authors.forename: X
authors.initials: X
authors.lastname: Montagutelli
authors.forename: J L
authors.initials: JL
authors.lastname: Guénet
authors.forename: T
authors.initials: T
authors.lastname: Grimm
authors.forename: W
authors.initials: W
authors.lastname: Kress
authors.forename: C R
authors.initials: CR
authors.lastname: Müller
mesh_terms: D000474:Alkaptonuria / Q000453:epidemiology / Q000235:genetics*; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D004276:DNA, Satellite / Q000235:genetics; D049308:Dioxygenases; D005260:Female; D005796:Genes; D005819:Genetic Markers; D050560:Homogentisate 1,2-Dioxygenase; D006801:Humans; D015994:Incidence; D008297:Male; D010105:Oxygenases / Q000235:genetics*; D010375:Pedigree
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers; D010105:Oxygenases; D049308:Dioxygenases; D050560:Homogentisate 1,2-Dioxygenase