The human gene for alkaptonuria (AKU) maps to chromosome 3q

Journal Article · Fri Dec 31 23:00:00 EST 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1994.1003· OSTI ID:6574071

Janocha, S; Wolz, W; Grimm, T; Kress, W; Mueller, C R ^[1]; Srsen, S; Srsnova, K ^[2]; Montagutelli, X; Guenet, J L ^[3]

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1. Univ. of Wuerzburg, Biozentrum (Germany)
2. Komensky Univ., Kalinciakova (Czech Republic)
3. Institut Pasteur, Paris (France)

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, the authors were able to map the human gene to chromosome 3q in six alkaptonuria pedigrees of Slovak origin. 22 refs., 3 figs., 1 tab.

• OSTI ID: 6574071
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 19:1; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CHROMOSOMES
DISEASES
ENZYMES
GENETIC MAPPING
HUMAN CHROMOSOME 3
HUMAN CHROMOSOMES
MAPPING
METABOLIC DISEASES
ORGANIC COMPOUNDS
OXIDOREDUCTASES
PROTEINS