Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis

Biochemistry. 1999 Jan 12;38(2):509-15. doi: 10.1021/bi9824137.

Abstract

ROS-GC1 is the original member of the subfamily of membrane guanylate cyclases with two Ca2+ switches, which have been defined as CRM1 and CRM2. These are separately located within the intracellular domain of the cyclase. CRM1 switches on the enzyme at nanomolar concentrations of Ca2+ and is linked with phototransduction; the other stimulates at micromolar Ca2+ concentrations and is predicted to be linked with retinal synaptic activity. Ca2+ acts indirectly via Ca2+-binding proteins, GCAP1 and CD-GCAP. GCAP1 is a modulator of the CRM1 switch, and CD-GCAP turns on the CRM2 switch. A Leber's congenital amaurosis, termed LCA1, involves F514S point mutation in ROS-GC1. The present study shows that the mutation severely damages its intrinsic cyclase activity and inactivates its CRM1 switch but does not affect the CRM2 switch. In addition, on the basis of the established modulatory features of ROS-GC1, it is predicted that, in two other forms of LCA1 involving deletion of nt 460C or 693C, there is a frameshift in ROS-GC1 gene, which results in the nonexpression of the cyclase. For the first time, the findings define the linkage of distinct molecular forms of LCA to ROS-GC1 in precise biochemical terms; they also explain the reasons for the insufficient production of cyclic GMP in photoreceptors to sustain phototransduction, which ultimately leads to the degeneration of the photoreceptors.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Calcium / physiology
  • Calcium-Binding Proteins / physiology
  • Genetic Linkage*
  • Guanylate Cyclase / genetics*
  • Guanylate Cyclase-Activating Proteins
  • Humans
  • Mutation*
  • Optic Atrophies, Hereditary / enzymology
  • Optic Atrophies, Hereditary / genetics*
  • Phenylalanine / genetics
  • Receptors, Cell Surface*
  • Rod Cell Outer Segment / enzymology*
  • Serine / genetics

Substances

  • Calcium-Binding Proteins
  • GUCA1A protein, human
  • Guanylate Cyclase-Activating Proteins
  • Receptors, Cell Surface
  • guanylate cyclase 1
  • Serine
  • Phenylalanine
  • Guanylate Cyclase
  • Calcium