Somatic Cell Genetics

, Volume 9, Issue 3, pp 359–374

Structural gene coding for multifunctional protein carrying orotate phosphoribosyltransferase and OMP decarboxylase activity is located on long arm of human chromosome 3

  • David Patterson
  • Carol Jones
  • Helvise Morse
  • Paul Rumsby
  • York Miller
  • Richard Davis
Article

DOI: 10.1007/BF01539144

Cite this article as:
Patterson, D., Jones, C., Morse, H. et al. Somat Cell Mol Genet (1983) 9: 359. doi:10.1007/BF01539144

Abstract

In humans, deficiency in the last two enzymes of UMP biosynthesis, orotate phosphoribosyltransferase (OPRT) and OMP decarboxylase results in the inborn error of metabolism hereditary orotic aciduria, type 1. In this manuscript, we present immunologic, molecular, biochemical, and genetic evidence that the gene coding for this set of enzymatic activities is located on the long arm of human chromosome 3. The evidence presented here is consistent with both these activities being carried on the same multifunctional protein in mammalian cells. These studies allow further genetic analysis of human chromosome 3, confirming that human markers ACY-1, previously assigned to 3p21, and β-gal, previously assigned by others to the region 3(p21-q21), must be in the region 3 (cen-p21) and confirming the regional assignment of a human DNA segment, D3S1, to 3q12. The significance of these studies to genetic analysis of genes on human chromosome 3, some of which appear to play a role in some forms of malignancy, is discussed.

Copyright information

© Plenum Publishing Corporation 1983

Authors and Affiliations

  • David Patterson
    • 1
    • 2
    • 3
    • 4
  • Carol Jones
    • 1
    • 2
    • 3
  • Helvise Morse
    • 1
    • 2
    • 3
  • Paul Rumsby
    • 1
    • 2
  • York Miller
    • 1
    • 2
    • 4
  • Richard Davis
    • 1
    • 2
  1. 1.Eleanor Roosevelt Institute for Cancer Research, Inc.University of Colorado Health Sciences CenterUSA
  2. 2.Florence R. Sabin Laboratories for Genetic and Developmental MedicineUniversity of Colorado Health Sciences CenterUSA
  3. 3.Department of Biochemistry, Biophysics and GeneticsUniversity of Colorado Health Sciences CenterUSA
  4. 4.Department of MedicineUniversity of Colorado Health Sciences CenterUSA

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