Gene dosage: evidence for assignment of erythrocyte acid phosphatase locus to chromosome 2.
A child, trisomic for the distal short arm of chromosome 2 due to a familial 2/18 translocation, has elevated levels of activity of erythrocyte acid phosphatase [orthophosphoric-monoester phosphohydrolase (acid optimum), 3.1.3.2] Ferguson-Smith et al. [(1973) Nature New Biol. 243, 271-274] previously had found decreased levels of activity and loss of expression of an erythrocyte acid phosphatase allele in a subject who lacked one of the two homologous regions containing the distal three bands of chromosome 2. They suggested that the locus for erythrocyte acid phosphatase is located on that segment. Our findings provide further evidence for this assignment and also suggest an in vivo gene dosage effect of this autosomal locus, which depends on both the type and number of alleles present.
D000135:Acid Phosphatase / Q000096:biosynthesis / Q000097:blood*; D000483:Alleles; D002869:Chromosome Aberrations / Q000201:enzymology* / Q000235:genetics; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002900:Chromosomes, Human, 1-3; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D005796:Genes; D006801:Humans; D007223:Infant; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy
D000135:Acid Phosphatase