Analysis of phosducin as a candidate gene for retinopathies

Fumino Ara-Iwata, Samuel G. Jacobson, J. Donald M. Gass, Yoshihiro Hotta, Keiko Fujiki, Mutsuko Hayakawa, George Inana

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

Phosducin, a retina-expressed gene mapped to chromosome 1q25-32.1, was analyzed as a candidate gene for retinopathies. The phosducin gene was cloned and characterized, and PCR primers were designed. Eighty-three patients with various retinopathies and 45 control subjects (24 American, 21 Japanese) were analyzed for mutations in the phosducin gene by PCR, denaturing gradient gel electrophoresis (DGGE), and sequencing. A heterozygous sequence variant changing a glycine to arginine at codon 178 was found in one Usher syndrome type II (USH2) patient, while the other USH2 patients did not show any coding sequence variant. A heterozygous sequence variant changing an asparagine to lysine at codon 174 was found in a patient with a severe retinal degeneration in the category of diseases known as acute zonal occult outer retinopathy (AZOOR). Three non-coding sequence variants were found. Two of these were always present together and found in 20.8% of American and 2.4% of Japanese control subjects, reflecting a difference in population pools. In conclusion, the phosducin gene did not show mutations consistent with it being the causative gene for USH2, but its possible pathogenicity in AZOOR or other retinopathies remains an open question which may be answered by further analysis.

Original languageEnglish (US)
Pages (from-to)3-14
Number of pages12
JournalOphthalmic Genetics
Volume17
Issue number1
DOIs
StatePublished - Mar 1996

Keywords

  • AZOOR
  • Candidate gene
  • Phosducin
  • Polymorphism
  • Usher syndrome II

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

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    Ara-Iwata, F., Jacobson, S. G., Gass, J. D. M., Hotta, Y., Fujiki, K., Hayakawa, M., & Inana, G. (1996). Analysis of phosducin as a candidate gene for retinopathies. Ophthalmic Genetics, 17(1), 3-14. https://doi.org/10.3109/13816819609057863