Skip to main content
Journal cover image

Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.

Publication ,  Journal Article
Nishiguchi, KM; Sandberg, MA; Kooijman, AC; Martemyanov, KA; Pott, JWR; Hagstrom, SA; Arshavsky, VY; Berson, EL; Dryja, TP
Published in: Nature
January 1, 2004

The RGS proteins are GTPase activating proteins that accelerate the deactivation of G proteins in a variety of signalling pathways in eukaryotes. RGS9 deactivates the G proteins (transducins) in the rod and cone phototransduction cascades. It is anchored to photoreceptor membranes by the transmembrane protein R9AP (RGS9 anchor protein), which enhances RGS9 activity up to 70-fold. If RGS9 is absent or unable to interact with R9AP, there is a substantial delay in the recovery from light responses in mice. We identified five unrelated patients with recessive mutations in the genes encoding either RGS9 or R9AP who reported difficulty adapting to sudden changes in luminance levels mediated by cones. Standard visual acuity was normal to moderately subnormal, but the ability to see moving objects, especially with low-contrast, was severely reduced despite full visual fields; we have termed this condition bradyopsia. To our knowledge, these patients represent the first identified humans with a phenotype associated with reduced RGS activity in any organ.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Nature

DOI

EISSN

1476-4687

Publication Date

January 1, 2004

Volume

427

Issue

6969

Start / End Page

75 / 78

Location

England

Related Subject Headings

  • Visual Acuity
  • Vision, Ocular
  • Vision Disorders
  • RGS Proteins
  • Protein Conformation
  • Photoreceptor Cells, Vertebrate
  • Phenotype
  • Mutation
  • Models, Molecular
  • Membrane Proteins
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Nishiguchi, K. M., Sandberg, M. A., Kooijman, A. C., Martemyanov, K. A., Pott, J. W. R., Hagstrom, S. A., … Dryja, T. P. (2004). Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. Nature, 427(6969), 75–78. https://doi.org/10.1038/nature02170
Nishiguchi, Koji M., Michael A. Sandberg, Aart C. Kooijman, Kirill A. Martemyanov, Jan W. R. Pott, Stephanie A. Hagstrom, Vadim Y. Arshavsky, Eliot L. Berson, and Thaddeus P. Dryja. “Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.Nature 427, no. 6969 (January 1, 2004): 75–78. https://doi.org/10.1038/nature02170.
Nishiguchi KM, Sandberg MA, Kooijman AC, Martemyanov KA, Pott JWR, Hagstrom SA, et al. Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. Nature. 2004 Jan 1;427(6969):75–8.
Nishiguchi, Koji M., et al. “Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.Nature, vol. 427, no. 6969, Jan. 2004, pp. 75–78. Pubmed, doi:10.1038/nature02170.
Nishiguchi KM, Sandberg MA, Kooijman AC, Martemyanov KA, Pott JWR, Hagstrom SA, Arshavsky VY, Berson EL, Dryja TP. Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. Nature. 2004 Jan 1;427(6969):75–78.
Journal cover image

Published In

Nature

DOI

EISSN

1476-4687

Publication Date

January 1, 2004

Volume

427

Issue

6969

Start / End Page

75 / 78

Location

England

Related Subject Headings

  • Visual Acuity
  • Vision, Ocular
  • Vision Disorders
  • RGS Proteins
  • Protein Conformation
  • Photoreceptor Cells, Vertebrate
  • Phenotype
  • Mutation
  • Models, Molecular
  • Membrane Proteins