Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase β-subunit gene in mouse and human: Tight linkage to the Huntington disease region (4p16.3)

Academic Article


  • The retinal degeneration mouse (gene symbol, rd) is an animal model for certain forms of human hereditary retinopathies. Recent findings of a nonsense mutation in the rd mouse PDE β-subunit gene (Pdeb) prompted us to investigate the chromosome locations of the mouse and human genes. We have utilized backcross analysis in mice to verify and define more precisely the location of the Pdeb locus 6.1 ± 2.3 cM distal of Mgsa on mouse chromosome 5. We have determined that the human gene (PDEB) maps to 4p16.3, very close to the Huntington disease (HD) region. Analysis of the comparative map for mice and humans shows that the mouse homologue of the HD gene will reside on chromosome 5. Linkage of the mouse Pdeb locus with other homologues in the human 4p16.3 region is maintained but gene order is not, suggesting at least three possible sites for the corresponding mouse HD gene. © 1992.
  • Authors

    Published In

  • Genomics  Journal
  • Digital Object Identifier (doi)

    Author List

  • Altherr MR; Wasmuth JJ; Seldin MF; Nadeau JH; Baehr W; Pittler SJ
  • Start Page

  • 750
  • End Page

  • 754
  • Volume

  • 12
  • Issue

  • 4