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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

PDE6G  -  phosphodiesterase 6G, cGMP-specific, rod,...

Homo sapiens

Synonyms: GMP-PDE gamma, PDEG, RP57, Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
 
 
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High impact information on PDE6G

  • Recombination events between the adRP locus and: (1) a single-stranded conformation polymorphism in PDEG; and (2) a restriction fragment length polymorphism in TIMP2 provided evidence for the exclusion of these candidate genes as being responsible for adRP in the South African kindred [1].
  • The PDEG gene has been assigned to human chromosome 17, probably in the region q21.1 [2].
  • Variant transcripts of known retina genes are also observed, including an alternative exon in the coding sequence of the transcription factor NRL and a skipped coding sequence exon in the phosphodiesterase gammasubunit (PDE6G) [3].
  • Mutations in ROM1 or in PDE6G are not causative of feline Rdy [4].
 

Biological context of PDE6G

  • Single-stranded conformation polymorphism (SSCP) analysis of Rdy-affected and normal cats was used to identify intragenic polymorphisms within ROM1 and PDE6G [4].
  • For both ROM1 and PDE6G polymorphisms identified by SSCP and sequencing showed disconcordance between the polymorphism and the disease phenotype within an Rdy disease pedigree [4].

References

  1. Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes. Bardien, S., Ramesar, R., Bhattacharya, S., Greenberg, J. Hum. Genet. (1997) [Pubmed]
  2. Isolation and characterization of cDNA encoding the gamma-subunit of cGMP phosphodiesterase in human retina. Tuteja, N., Danciger, M., Klisak, I., Tuteja, R., Inana, G., Mohandas, T., Sparkes, R.S., Farber, D.B. Gene (1990) [Pubmed]
  3. Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts. Wistow, G., Bernstein, S.L., Wyatt, M.K., Ray, S., Behal, A., Touchman, J.W., Bouffard, G., Smith, D., Peterson, K. Mol. Vis. (2002) [Pubmed]
  4. Autosomal dominant retinal dystrophy (Rdy) in Abyssinian cats: exclusion of PDE6G and ROM1 and likely exclusion of Rhodopsin as candidate genes. Gould, D.J., Sargan, D.R. Anim. Genet. (2002) [Pubmed]
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