Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase β-subunit gene in mouse and human

Tight linkage to the Huntington disease region (4p16.3)

Michael R. Altherr, John J. Wasmuth, Michael F Seldin, Joseph H. Nadeau, Wolfgang Baehr, Steven J. Pittler

Research output: Contribution to journalArticle

22 Citations (Scopus)

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 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.

Original languageEnglish (US)
Pages (from-to)750-754
Number of pages5
JournalGenomics
Volume12
Issue number4
DOIs
StatePublished - 1992
Externally publishedYes

Fingerprint

Retinal Rod Photoreceptor Cells
Chromosome Mapping
Huntington Disease
Phosphoric Diester Hydrolases
Genes
Chromosomes, Human, Pair 5
Retinal Degeneration
Gene Order
Nonsense Codon
Animal Models
Chromosomes

ASJC Scopus subject areas

  • Genetics

Cite this

Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase β-subunit gene in mouse and human : Tight linkage to the Huntington disease region (4p16.3). / Altherr, Michael R.; Wasmuth, John J.; Seldin, Michael F; Nadeau, Joseph H.; Baehr, Wolfgang; Pittler, Steven J.

In: Genomics, Vol. 12, No. 4, 1992, p. 750-754.

Research output: Contribution to journalArticle

Altherr, Michael R. ; Wasmuth, John J. ; Seldin, Michael F ; Nadeau, Joseph H. ; Baehr, Wolfgang ; Pittler, Steven J. / Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase β-subunit gene in mouse and human : Tight linkage to the Huntington disease region (4p16.3). In: Genomics. 1992 ; Vol. 12, No. 4. pp. 750-754.
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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 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.",
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