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

Koji M. Nishiguchi, 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 ()
Additional contact information
Koji M. Nishiguchi: Harvard Medical School, Massachusetts Eye and Ear Infirmary
Michael A. Sandberg: Harvard Medical School, Massachusetts Eye and Ear Infirmary
Aart C. Kooijman: University Hospital Groningen
Kirill A. Martemyanov: Harvard Medical School, Massachusetts Eye and Ear Infirmary
Jan W. R. Pott: University Hospital Groningen
Stephanie A. Hagstrom: Harvard Medical School, Massachusetts Eye and Ear Infirmary
Vadim Y. Arshavsky: Harvard Medical School, Massachusetts Eye and Ear Infirmary
Eliot L. Berson: Harvard Medical School, Massachusetts Eye and Ear Infirmary
Thaddeus P. Dryja: Harvard Medical School, Massachusetts Eye and Ear Infirmary

Nature, 2004, vol. 427, issue 6969, 75-78

Abstract: Abstract The RGS proteins are GTPase activating proteins that accelerate the deactivation of G proteins in a variety of signalling pathways in eukaryotes1,2,3,4,5,6. RGS9 deactivates the G proteins (transducins) in the rod and cone phototransduction cascades7,8. It is anchored to photoreceptor membranes by the transmembrane protein R9AP (RGS9 anchor protein), which enhances RGS9 activity up to 70-fold9,10,11. If RGS9 is absent or unable to interact with R9AP, there is a substantial delay in the recovery from light responses in mice4,12,13. 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.

Date: 2004
References: Add references at CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/nature02170 Abstract (text/html)
Access to the full text of the articles in this series is restricted.

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:nature:v:427:y:2004:i:6969:d:10.1038_nature02170

Ordering information: This journal article can be ordered from
https://www.nature.com/

DOI: 10.1038/nature02170

Access Statistics for this article

Nature is currently edited by Magdalena Skipper

More articles in Nature from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().