Faculty Research 1990 - 1999

Title

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

Document Type

Article

Publication Date

1992

Keywords

Chromosome-Mapping, Chromosomes-Human-Pair-4, Comparative-Study, Human, Huntington's-Disease: ge, Linkage-(Genetics), Mice, Mutation, Retinal-Degeneration: ge, Rods-and-Cones: en, Species-Specificity, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S, 3'5'-Cyclic-GMP-Phosphodiesterase: ge

JAX Source

Genomics 1992 Apr;12(4):750-4

Grant

NS25631/NS/NINDS, HG00101/HG/NCHGR, HG00189/HG/NCHGR

Abstract

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 beta-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.

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