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NADPH-diaphorase colocalization with somatostatin receptor subtypes sst2A and sst2B in the retina.

PURPOSE: To investigate the differential localization of somatotropin release-inhibitory factor (SRIF) receptor subtypes (sst2A and sst2B) and their possible colocalization with reduced nicotinamide adenine dinucleotide phosphate (NADPH)-diaphorase in the rat and rabbit retina. METHODS: Polyclonal antibodies raised against sst2A and sst2B receptors were applied to 10- to 14-microm cryostat sections of rat and rabbit retinas fixed in paraformaldehyde. NADPH-diaphorase reactivity was assessed histochemically. Double labeling was performed for sst2A or sst2B receptors with NADPH-diaphorase, and with markers for the cell types present in the retina (protein kinase C [PKC], tyrosine hydroxylase; [TH], calbindin, and recoverin). RESULTS: sst2A immunoreactivity was detected in rod bipolar cells and colocalized with NADPH-diaphorase in the rabbit, but not the rat, retina. sst2B was present only in photoreceptor cells of the rat and colocalized with NADPH-diaphorase. CONCLUSIONS: These results suggest that SRIF, acting through sst2A receptors in bipolar cells and sst2B receptors in photoreceptor cells, may affect nitric oxide function in the rabbit and rat retina.

Animals↗

Retarded outer segment development in TrkB knockout mouse retina organ culture.

PURPOSE: To determine the effects of trkB deficiency in the mouse retina on photoreceptor development and retinal organization, in the absence of confounding systemic effects. METHODS: Newborn mice that carried two null trkB alleles (trkB-/-) and their wild type (WT) littermates were used for retinal organ cultures. On Day 21, rod development was assessed histologically in plastic sections (outer segment length) and retinal organization was analyzed using retinal cell-type specific antibodies. Anatomical data obtained from the organ cultures were compared to previously published histological results from in vivo data. RESULTS: (1) Rod outer segment length was significantly shorter in retinas from trkB-/- mice in the presence of normal numbers of rods. (2) No dopaminergic amacrine cells were observed in the knockout retina. (3) Unlike in the in vivo condition, recoverin-positive OFF-cone bipolar cells were present in trkB-/- retinas grown in culture. CONCLUSIONS: (1) These results demonstrate that rod outer segment development is compromised in the absence of trkB in the retina. (2) This study further supports our previous conclusion that the elimination of trkB expression alters rod development, because the presence of trkB receptors within the retina is essential for normal rod maturation and not because of confounding systemic effects. (3) More generally, this study stresses the importance of investigating complex phenotypes in gene knockout mice under conditions that isolate the organ under investigation from unrelated systemic variations.

Animals↗

Expression of ocular autoantigens in the mouse thymus.

UNLABELLED: PURPOSE. The occurrence of eye diseases of autoimmune nature, as well as experimental models of these diseases, has been attributed to the sequestration of ocular antigens from the immune system, that prevents the development of tolerance against these antigens. Here, we tested this assertion by examining whether transcripts of certain ocular antigens are constitutively expressed in the thymus, the site of central tolerance induction. METHOD: RNA was isolated from the eyes and thymi of two mouse strains and analyzed for the expression of genes encoding four retinal and three lens proteins by reverse transcribed-polymerase chain reaction. Southern blot and DNA sequence analyses. RESULTS: We detected gene transcripts of S-Antigen (S-Ag), interphotoreceptor retinoid-binding protein, opsin, recoverin, lens major intrinsic protein (MIP), alphaA-, alphaA(-ins)- and gamma-crystallins in the thymi of BALB/c and FVB/N mouse strains. DNA sequence analysis of the thymic MIP and S-Ag transcripts confirmed their identity to the lens and retinal proteins, respectively. CONCLUSIONS: Our results reveal that transcripts of several ocular-specific proteins are expressed in the thymus and suggest that the commonly held view that ocular-specific antigens are sequestered from the immune system should be modified.

Animals↗

A calbindin-immunoreactive cone bipolar cell type in the rabbit retina.

We have studied the distribution of the calcium-binding protein calbindin in the adult rabbit retina by using a commercially available antibody and immunocytochemical methods. The most heavily labeled cells are A-type horizontal cells, but B-type horizontal cells are also lightly labeled by this antibody. Among the horizontal cells, there is a mosaic of small, well-labeled somata, which we have identified as a subset of ON cone bipolar cells. In addition, some wide-field amacrine cells and a few large ganglion cells are also labeled for calbindin. The calbindin bipolar cells form a regular mosaic with a peak density of approximately 1,700 cells/mm2, falling to 550 cells/mm2 in the periphery. They account for about one-twelfth of cone bipolar cells, and they are narrowly stratified deep in sublamina 4 of the inner plexiform layer immediately above the rod bipolar terminals. Double-label experiments using an antibody to protein kinase C (PKC) indicate that the calbindin bipolar cells are completely distinct from the population of rod bipolar cells. Rod bipolar cells outnumber the calbindin cone bipolar cells by a factor of four to five. Further double-label experiments show that the calbindin bipolar cells are also labeled for recoverin. The calbindin bipolar cells are well coupled to AII amacrine cells, and they account for roughly 23% of the AII coupled bipolar cells. This suggests that there are three to four additional ON cone bipolar cell types that are coupled to AII amacrine cells. The calbindin cone bipolar cell described in this paper shares many characteristics with a reconstructed cone bipolar cell that forms the most gap junctions with AII amacrine cells (Strettoi et al. [1994] J. Comp. Neurol. 347:139-149). We conclude that these different methodologies provide complementary descriptions of the same cone bipolar cell type. The calbindin antibody defines a subset of cone bipolar cells in the rabbit retina. The cells in this subset are almost certainly the deepest of the cone bipolar cells. The tight stratification of the calbindin cone bipolar cell suggests that the inner plexiform layer is stratified according to depth, with narrow functional divisions within the broad partition of sublamina b, where ON signals are processed. The strength of coupling between the calbindin cone bipolar cells and AII amacrine cells suggests this pathway plays a major role under scotopic conditions.

Animals↗

Diffuse bipolar cells provide input to OFF parasol ganglion cells in the macaque retina.

Parasol retinal ganglion cells are more sensitive to luminance contrast and respond more transiently at all levels of adaptation than midget ganglion cells. This may be due, in part, to differences between bipolar cells that provide their input, and the goal of these experiments was to study these differences. Midget bipolar cells are known to be presynaptic to midget ganglion cells. To identify the bipolar cells presynaptic to parasol cells, these ganglion cells were intracellularly injected with Neurobiotin, cone bipolar cells were immunolabeled, and the double-labeled material was analyzed. In the electron microscope, we found that DB3 diffuse bipolar cells labeled by using antiserum to calbindin D-28k were presynaptic to OFF parasol cells. In the confocal microscope, DB3 bipolars costratified with OFF parasol cell dendrites and made significantly more appositions with them than expected due to chance. Flat midget bipolar cells were labeled with antiserum to recoverin. Although they made a few appositions with parasol cells, the number was no greater than would be expected when two sets of processes have overlapping distributions in the inner plexiform layer. DB2 diffuse bipolar cells were labeled with antibodies to excitatory amino acid transporter 2, and they also made appositions with OFF parasol cells. These results suggest that DB2 bipolar cells are also presynaptic to OFF parasol ganglion cells, but midget bipolar cells are not. We estimate that midperipheral OFF parasol cells receive approximately 500 synapses from 50 DB3 bipolar cells that, in turn, receive input from 250 cones.

Amino Acid Sequence↗

Crystallization and preliminary X-ray crystallographic studies of recombinant bovine neurocalcin delta.

Neurocalcins are novel brain-specific proteins that belong to a new subclass of the EF-hand super-family of calcium binding proteins, defined by the photoreceptor cell-specific protein recoverin (Terasawa et al., J. Biol. Chem. 267:19596-19599, 1992). Here we report the purification and crystallization of unmyristoylated recombinant bovine neurocalcin delta from Escherichia coli. Crystals of a bovine neurocalcin delta have been grown by macro-seeding at room temperature through vapor phase equilibration using the hanging drop technique with ammonium sulfate as the precipitating agent. The crystals diffract to at least 2.5 A resolution and belong to monoclinic space group P21 with unit cell dimensions a = 42.734 A, b = 94.343 A, c = 50.696 A, and beta = 98.37 degrees. The asymmetric unit contains two molecules, with corresponding crystal volume per protein mass (Vm) of 2.29 A3/Da and solvent fraction of 45% by volume, exhibiting an approximate 222 point symmetry.

Animals↗

Diversity of conformational states and changes within the EF-hand protein superfamily.

The EF-hand motif, which assumes a helix-loop-helix structure normally responsible for Ca2+ binding, is found in a large number of functionally diverse Ca2+ binding proteins collectively known as the EF-hand protein superfamily. In many superfamily members, Ca2+ binding induces a conformational change in the EF-hand motif, leading to the activation or inactivation of target proteins. In calmodulin and troponin C, this is described as a change from the closed conformational state in the absence of Ca2+ to the open conformational state in its presence. It is now clear from structures of other EF-hand proteins that this "closed-to-open" conformational transition is not the sole model for EF-hand protein structural response to Ca2+. More complex modes of conformational change are observed in EF-hand proteins that interact with a covalently attached acyl group (e.g., recoverin) and in those that dimerize (e.g., S100B, calpain). In fact, EF-hand proteins display a multitude of unique conformational states, together constituting a conformational continuum. Using a quantitative 3D approach termed vector geometry mapping (VGM), we discuss this tertiary structural diversity of EF-hand proteins and its correlation with target recognition.

Amino Acid Motifs↗

Neurocalcin-immunoreactive cells in the rat hippocampus are GABAergic interneurons.

Neurocalcin (NC) is a recently described calcium-binding protein isolated and characterized from bovine brain. NC belongs to the neural calcium-sensor proteins defined by the photoreceptor cell-specific protein recoverin that have been proposed to be involved in the regulation of calcium-dependent phosphorylation in signal transduction pathways. We analyzed the distribution and morphology of the NC-immunoreactive (IR) neurons in the rat dorsal hippocampus and the coexistence of NC with GABA and different neurochemical markers which label perisomatic inhibitory cells [parvalbumin (PV) and cholecystokinin (CCK)], mid-proximal dendritic inhibitory cells [calbindin D28k (CB)], distal dendritic inhibitory cells [somatostatin (SOM) and neuropeptide Y (NPY)], and interneurons specialized to innervate other interneurons [calretinin (CR) and vasoactive intestinal polypeptide (VIP)]. NC-IR cells were present in all layers of the dentate gyrus and hippocampal fields. In the dentate gyrus, NC-IR cells were concentrated in the granule cell layer, especially in the hilar border, whereas in the CA fields they were most frequently found in the stratum radiatum. NC-IR cells were morphologically heterogeneous and exhibited distinctive features of non-principal cells. In the dentate gyrus, pyramidal-like, multipolar and fusiform (horizontal and vertical) cells were found. In the CA3 region most NC-IR cells were multipolar, but vertical and horizontal fusiform cells also appeared. In the CA1 region, where NC-IR cells showed most frequently vertically arranged dendrites, multipolar, bitufted and fusiform (vertical and horizontal) cells could be distinguished. All the NC-IR cells were found to be GABA-IR in all hippocampal layers and regions, and they represented about 19% of the GABA-positive cells. NC/CB, NC/CR and NC/VIP double-labeled cells were found in all hippocampal regions, and represented 29%, 24% and 18% of the NC-IR cells, respectively. NC and CCK did not coexist in the dentate gyrus; however, 9% of the NC-IR cells in the CA fields also contained CCK. No coexistence of NC with PV, SOM or NPY was found in any hippocampal region. We conclude that NC is exclusively expressed by interneurons in the rat hippocampus. NC-IR cells are a morphologically and neurochemically heterogeneous subset of GABAergic non-principal cells, which, on the basis of the known termination pattern of the colocalizing markers, are also functionally heterogeneous and are mainly involved in feed-forward dendritic inhibition in the commissural-associational and Schaffer collateral termination zones (CB containing cells), in innervation of other interneurons (CR- and VIP-containing cells), and in perisomatic inhibition (CCK-containing cells). NC is never present in perisomatic inhibitory PV-containing cells, or in feed-back distal dendritic inhibitory SOM/NPY-containing cells.

Animals↗

Molecular mechanism of visual transduction.

Our vision renders an incredible wealth of information about the external environment presented in the form of light of different wavelengths and intensities. To operate in a wide range of light intensities, our visual system has developed several mechanisms that allow an adjustment of its sensitivity to light. Immense progress has been made in understanding how light is captured and activates visual phototransduction cascade within photoreceptor cells; however, much less is known about desensitization. It has been known for some time, that many of these processes rely on Ca2+ as the principal modifier of phototransduction. Ca(2+)-binding proteins (CBPs) are specifically poised to take advantage of transient changes in [Ca2+] to act as enzymatic regulators. Some other CBPs are capable of changing the intracellular Ca2+ buffering capacity. Various retinal CBP proteins have been identified, including recoverin, GCAP1, GCAP2, GCAP3, GCIP, CBP1, CBP3 and CBP4. Although these numerous CBPs were identified, functions can be ascribed to only a few of them. Recently, genetic, physiological and biochemical analyses of retinal diseases have yielded additional insights into the role of many phototransduction proteins, including CBPs. Understanding the properties and the functions of these CBPs will pave the way for a more complete picture of visual transduction and accompanying desensitization processes.

Animals↗

Paraneoplastic autoimmune optic neuritis with retinitis defined by CRMP-5-IgG.

Autoantibodies have defined two paraneoplastic visual disorders related to small-cell lung carcinoma: retinopathy ("CAR"-IgG [23kDa, recoverin]) and optic neuritis collapsin response-mediated protein 5 (CRMP-5-IgG [62kDa]). Among 16 patients with CRMP-5-IgG and optic neuritis (aged 52-74 years; all smokers, 9 women), we documented coexisting retinitis in 5. None had CAR-IgG. Fifteen had subacute vision loss, swollen optic discs, and field defects. Vascular leakage was evident at and remote from the disc; 5/5 tested had abnormal electroretinograms. Nine had striking vitreous cells. Vitrectomy showed reactive lymphocytosis (4/4), predominantly CD4(+) (1/1). Most patients had multifocal neurological accompaniments. Cerebrospinal fluid contained lymphocytes (7-32), elevated protein, multiple oligoclonal immunoglobulin bands, and CRMP-5-IgG. Three patients superficially resembled Devic's disease at presentation. One autopsied patient had predominantly CD8(+) T lymphocytes infiltrating optic nerve and spinal cord. Eleven patients had confirmed small-cell carcinoma; 1 had imaging evidence of lung cancer; 3 had renal or thyroid carcinoma. Full-length CRMP-5 protein was identified in normal retina and optic nerve by Western blot analyses. Photoreceptor cells, retinal ganglion cells, and nerve fibers exhibited CRMP-5-specific immunoreactivity. In summary, CRMP-5-IgG defines a paraneoplastic ophthalmological entity of combined optic neuritis and retinitis with vitreous inflammatory cells. Positive serology obviates the need for vitreous biopsy and expedites the search for cancer.

Aged↗

Immunocytochemical description of five bipolar cell types of the mouse retina.

With the ever-growing number of transgenic mice being used in vision research, a precise knowledge of the cellular organization of the mouse retina is required. As with the cat, rabbit, rat, and primate retinae, as many as 10 cone bipolar types and one rod bipolar type can be expected to exist in the mouse retina; however, they still have to be defined. In the current study, several immunocytochemical markers were applied to sections of mouse retina, and the labeling of bipolar cells was studied using confocal microscopy and electron microscopy. By using antibodies against the neurokinin-3 receptor NK3R; the plasma membrane calcium ATPase1 (PMCA1); and the calcium (Ca)-binding proteins CaB1, CaB5, caldendrin, and recoverin, three different OFF-cone bipolar cells could be identified. One type of ON-cone bipolar cell was identified through its immunoreactivity for CaB5 and PMCA1. Rod bipolar cells, comparable in morphology to those of other mammalian retinae, expressed protein kinase Calpha and CaB5. It was also shown that putative OFF-cone bipolar cells receive light signals through flat contacts at the cone pedicle base, whereas ON-cone bipolar signaling involves invaginating contacts. The distribution of the kainate receptor subunit GluR5 was studied by confocal and electron microscopy. GluR5 was expressed at flat bipolar cell contacts; however, it appears to be involved with only certain types of OFF-cone bipolar cells. This suggests that different bipolar cell types receive their light signals through different sets of glutamate receptors.

Animals↗

Bipolar cell diversity in the primate retina: morphologic and immunocytochemical analysis of a new world monkey, the marmoset Callithrix jacchus.

The aim of this study was to identify the bipolar cell types in the retina of a New World monkey, the common marmoset, and compare them with those found in the Old World macaque monkey. Retinal whole-mounts, sections, or both, were stained by using DiI labeling and immunohistochemical methods. Semithin sections were analyzed by using quantitative methods. We show that the same morphologic types of bipolar cell as described for the Old World macaque monkey by Boycott and Wässle (Boycott and Wässle [1991] Eur. J. Neurosci. 3:1069-1088) are present in marmoset retina: two types of midget bipolar cells, six type of diffuse bipolar cells, a blue cone bipolar cell, and one type of rod bipolar cell. The pattern of staining with different immunohistochemical markers ("fingerprint") of each bipolar cell type in marmoset was also the same as described for macaque, with one exception: the flat midget bipolar cell (FMB) class is labeled by antibodies to recoverin in macaque but is labeled by antibodies to CD15 in marmoset. The labeled FMB cells in marmoset make contact with multiple cone photoreceptors throughout most of the extrafoveal retina. The spatial density of bipolar cells in marmoset is shown to be sufficient to support one-to-one connectivity of midget bipolar and ganglion cells in the fovea and to allow for parallel pathways to ganglion cells throughout the retina. Quantitative differences in the morphology and receptor connectivity between marmoset and macaque can be related to differences in cone and rod photoreceptor density between the species. We conclude that bipolar cell diversity is a preserved feature of the primate retina.

ATP-Binding Cassette Transporters↗

Synaptic connectivity in the midget-parvocellular pathway of primate central retina.

The synaptic connectivity of OFF midget bipolar cells was investigated in the central retina of two primate species, the New World common marmoset monkey, Callithrix jacchus, and the Old World macaque monkey, Macaca fascicularis. In marmosets, dichromatic and trichromatic animals were compared. Bipolar output synapses were identified with antibodies against ribbon proteins (kinesin, C-terminal binding protein 2) or with an antiserum that recognizes postsynaptic glutamate receptor clusters (GluR4). The midget bipolar cells were identified immunocytochemically with antibodies to CD15 (marmoset) or an antiserum to recoverin (macaque). In marmosets, midget ganglion cells were retrogradely labeled from the parvocellular layers of the dorsal lateral geniculate nucleus. Consistent with previous studies of Old World primates, in marmoset, midget bipolar cells contacted midget ganglion cells at a ratio of 1:1. The number of output synapses made by OFF midget bipolar cells was quantified for 104 cells in two dichromatic marmosets, 108 cells in one trichromatic marmoset, and 118 cells in one macaque. The number of output synapses was comparable for all animals, ranging from 10-71 in the dichromatic marmoset (average 29.7 +/- 12.4 SD), 12-86 in the trichromatic marmoset (average 28.6 +/- 11.7 SD) and 9-48 in the macaque (average 26.5 +/- 9.3 SD) per axon terminal. In all animals the number of output synapses per axon terminal showed a unimodal distribution. Our results suggest that the midget circuitry is comparable in dichromatic and trichromatic animals.

Animals↗

Immunocytochemical identification of cone bipolar cells in the rat retina.

We studied the morphology of bipolar cells in fixed vertical tissue sections of the rat retina by injecting the cells with Lucifer Yellow and neurobiotin. In addition to the rod bipolar cell, nine different putative cone bipolar cell types were distinguished according to the position of their somata in the inner nuclear layer and the branching pattern and stratification level of their axon terminals in the inner plexiform layer. Some of these bipolar cell populations were labeled immunocytochemically in vertical and horizontal sections using antibodies against the calcium-binding protein recoverin, the glutamate transporter GLT-1, the alpha isoform of the protein kinase C, and the Purkinje cell marker L7. These immunocytochemically labeled cell types were characterized in terms of cell density and distribution. We found that rod bipolar cells and GLT-1-positive cone bipolar cells occur at higher densities in a small region located in the upper central retina. This area probably corresponds to the central area, which is the region of highest ganglion cell density. A second peak of rod bipolar cell density in the lower temporal periphery matches the retinal area of binocular overlap. The population densities of the immunocytochemically characterized bipolar cells indicate that at least 50% of all bipolar cells are cone bipolar cells. The variety and total number of cone bipolar cells is surprising because the retina of the rat contains 99% rods. Our findings suggest that cone bipolar cells may play a more important role in the visual system of the rat than previously thought.

Animals↗

Differential lineage restriction of rat retinal progenitor cells in vitro and in vivo.

To identify and characterize the lineage potential of rat neural retina progenitor cells (NRPCs) in vitro and engrafted into rats with retinal degeneration, NRPCs were isolated from neural retinas of embryonic day 17 Long Evans rats and cultured in serum-free or serum-containing media with fibroblast growth factor 2 and neurotrophin 3. After expansion, cellular differentiation was initiated by the withdrawal of these growth factors. Despite forming primary neurospheres, NRPCs cultured in serum-free medium survived poorly after passage. In contrast, NRPCs cultured in serum-containing medium could be expanded for up to 12 passages and differentiated into glial fibrillary acidic protein-positive glial cells and retina-specific neurons expressing rhodopsin, S-antigen, calbindin, recoverin, and calretinin. For in vivo analysis, passage 1 (P1) undifferentiated NRPCs were labeled with bromodeoxyuridine (BrdU), implanted into the subretinal space of Royal College of Surgeons (RCS) rats, and analyzed immunohistochemically 4 weeks postgrafting. The grafted NRPCs showed extensive glial differentiation, irrespective of their topographic localization. A few BrdU-labeled grafted NRPCs expressed protein kinase C, a marker for bipolar and amacrine interneuron-specific differentiation. Other retina-specific or oligodendrocytic differentiation was not detected in the grafted cells. Although NRPCs are capable of self-renewal and multilineage differentiation in vitro, they developed mostly into glial cells following engraftment into the adult retina. These data suggest that the adult retina retains epigenetic signals that are either restrictive for neuronal differentiation or instructive for glial differentiation. Induction of lineage-specific cell differentiation of engrafted NRPCs to facilitate retinal repair will likely require initiation of specific differentiation in vitro prior to grafting and/or modification of the host environment concomitantly with NRPC grafting.

Animals↗

Characterization of a potent uveitopathogenic site derived from rat phosducin.

Phosducin is a retinal and pineal phosphoprotein assumed to play an important role in visual phototransduction. Phosducin is also a uveitopathogenic retinal antigen, but its potency has been reported to be mild. During the course of studies aimed at identifying uveitopathogenic sites in phosducin, we found that rat phosducin possessed a potent uveitopathogenic site. In this study, we characterize the potent uveitopathogenic site by using synthetic peptides. Several synthetic peptides from this region plus adjuvants were injected into Lewis rats, and the uveitopathogenic core sequence was defined. We also determined the pivotal amino acid residues by using synthetic peptides with single residue substitution. Immunization with PDC(R)65-96 (amino acid residues 65 through 96 derived from rat phosducin) at doses of 0.83 nmol or more induced severe experimental autoimmune uveitis (EAU) in all rats within 12 days. Experimental autoimmune pinealitis (EAP) was also observed in all rats after immunization with 0.83 nmol or higher doses of the peptide. The lowest dose of the peptide to induce EAU and EAP was 0.24 nmol. The smallest peptide that induced EAU as severe as PDC(R)65-96 was PDC(R)77-87, which consisted of 11 amino acid residues (YELIHQDKEDE). The core sequence within the uveitopathogenic site was a pentapeptide (LIHQD), amino acid residues from 79 to 83. To determine the role of individual residues within PDC(R)77-87, we tested the uveitopathogenicity of analogues of PDC(R)75-85 and PDC(R)77-89, respectively, in which each of the residues from 77 to 87 was replaced by alanine (A). Analogous peptides bearing a single residue substitution at 80 (I-->A) and 82 (Q-->A), respectively, were not uveitopathogenic. Our findings demonstrated the presence of a potent uveitopathogenic site in PDC(R)65-96 whose potency in Lewis rats was comparable to that of S-antigen. The pivotal amino acid residues for uveitopathogenicity were the residues at 80 (I) and 82 (Q). The clinical and histological features of this EAU closely resembled those of the EAU induced by S-antigen and recoverin.

Adoptive Transfer↗

A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13.

Inherited retinal dystrophy is a common cause of visual impairment. Cone dystrophy affects the cone function and is manifested as progressive loss of the central vision, defective color vision, and photophobia. Linkage was demonstrated between progressive cone dystrophy (CORD5) and genetic markers on chromosome 17p12-p13 in a five-generation family. Multipoint analysis gave a maximum lod score of 7.72 at the marker D17S938. Recombinant haplotypes in the family suggest that the cone dystrophy locus is located in a 25-cM interval between the markers D17S926/D17S849 and D17S804/D17S945. Furthermore, one recombination was detected between the disease locus and a microsatellite marker in the candidate gene RCV1, encoding the retinal protein recoverin. Two additional candidate genes encoding retinal guanylate cyclase (GUC2D) and pigment epithelium-derived factor (PEDF) are located at 17p13.1. Moreover, loci for retinitis pigmentosa and Leber congenital amaurosis have been mapped to the same region. Identification of the cone dystrophy locus may be of importance not only for identifying functional genes in the cone system, but also for identifying genes for other retinal disorders.

Chromosome Mapping↗

Tuning outer segment Ca2+ homeostasis to phototransduction in rods and cones.

Cone photoreceptors respond to light with less sensitivity, faster kinetics and adapt over a much wider range of intensities than do rods. These differences can be explained, in part, by the quantitative differences in the molecular processes that regulate the cytoplasmic free Ca2+ concentration in the outer segment of both receptor types. Ca2+ concentration is regulated through the kinetic balance between the ions' influx and efflux and the action of intracellular buffers. Influx is passive and mediated by the cyclic-GMP gated ion channels. In cones, Ca2+ ions carry about 35% of the ionic current flowing through the channels in darkness. In rods, in contrast, this fraction is about 20%. We present a kinetic rate model of the ion channels that helps explain the differences in their Ca2+ fractional flux. In cones, but not in rods, the cGMP-sensitivity of the cyclic GMP-gated ion channels changes with Ca2+ at the concentrations expected in dark-adapted photoreceptors. Ca2+ efflux is active and mediated by a Na+ and K+-dependent exchanger. The rate of Ca2+ clearance mediated by the exchanger in cones, regardless of the absolute size of their outer segment is of the order of tens of milliseconds. In rod outer segments, and again independently of their size, Ca2+ clearance rate is of the order of hundreds of milliseconds to seconds. We investigate the functional consequences of these differences in Ca2+ homeostasis using computational models of the phototransduction signal in rods and cones. Consistent with experimental observation, differences in Ca2+ homeostasis can make the cone's flash response faster and less sensitive to light than that of rods. In the simulations, however, changing Ca2+ homeostasis is not sufficient to recreate authentic cone responses. Accelerating the rate of inactivation (but NOT activation) of the enzymes of the transduction cascade, in addition, to changes in Ca2+ homeostasis are needed to explain the differences between rod and cone photosignals. The large gain and precise kinetic control of the electrical photoresponse of rod and cone retinal receptors suggested a long time back that phototransduction is mediated by cytoplasmic second messengers that, in turn, control membrane ionic conductance. (1) The unquestionable identification of cyclic GMP as the phototransduction messenger, however, did not come until the mid 1980's with the discovery that the light-regulated membrane conductance in both rods and cones is gated by this nucleotide (2-4) and is, in fact, an ion channel. (7) The cyclic nucleotide gated (CNG) channels, now we know, are not just the compliant targets of light-dependent change in cytoplasmic cGMP, but actively participate in the regulation transduction through Ca2+ feedback signals. The precise magnitude and time course of the concentration changes of cGMP and Ca2+ in either rods or cones remains controversial. It is clear, however, that whereas cGMP directly controls the opening and closing of the plasma membrane channels, Ca2+ controls the light-sensitivity and kinetics of the transduction signal. (8,9) The modulatory role of Ca2+ is particularly apparent in the process of light adaptation: in light-adapted rods or cones, the transduction signal generated by a given flash is lower in sensitivity and faster in time course than in dark-adapted cells. Light adaptation is compromised if Ca2+ concentration changes are attenuated by cytopiasmic Ca2+ buffers (8,10,11) and does not occur if Ca2+ concentration changes are prevented by manipulation of the solution bathing the cells. (2,4) Several Ca2+-dependent biochemical reactions have been identified in photoreceptors, among them: 1. ATP-dependent deactivation. (15,16) 2 Phodopsin phospshorylation, through the action of recoverin (S-modulin). (17-19) 3. Catalytic activity of guanylyl cyclase, (20-22) through the action of GCAP proteins. (23,24,25) 4. cGMP-sensitivity of the CNG channels. (26-29,30) A challenge in contemporary phototransduction research is to understand the details of these reactions and their role in the control of the phototransduction signal. Transduction signals in cone photoreceptors are faster, lower in light sensitivity, and more robust in their adaptation features than those in rods (for review see refs. 31;32). A detailed molecular explanation for these differences is not at hand. However, biochemical and electrophysiological (33) studies indicate that the elements in the light-activated pathway that hydrolyzes cGMP are quantitatively similar in their function in rods and cones and unlikely to account for the functional differences. Also, within the limited exploration completed todate, the Ca2+-dependence of guanylyl cyclase (34) and visual pigment phosphorylation (19) do not differ in rods and cones. On the other hand, data accumulated over the past few years indicate that cytoplasmic Ca2+ homeostasis, while controlled through essentially identical mechanisms it is quantitatively very different in its features in the two photoreceptor types. Both Ca2+ influx through CNG channels and the rate of Ca2+ clearance from the outer segment differ between the two receptor cells. Also, the Ca2+-dependent modulation of cGMP sensitivity is larger in extent in cones than in rods. Most significantly, the concentration range of this Ca2+ dependence overlaps the physiological range of light-dependent changes in cytoplasmic Ca2+ level in cones, but not in rods. We briefly review some of the evidence that supports these assertions and we then provide a quantitative analysis of the possible significance of these known differences. We conclude that while differences in Ca2+ homeostasis contribute importantly to explaining the differences between the two receptor types, they are alone not sufficient to explain the differences in the photoreceptor's response. It is likely that Ca2+-independent inactivation of the transduction cascade enzymes is more rapid in cones than in rods.

Animals↗