Genetic activity at the albino locus in Cattanach's insertion in the mouse

Development ◽  
1986 ◽  
Vol 96 (1) ◽  
pp. 295-302
Author(s):  
M. S. Deol ◽  
Gillian M. Truslove ◽  
Anne McLaren

Cattanach's insertion (Is(In7;X)1Ct or XCt) includes the normal allele at the albino locus (c+), which is subject to inactivation of the X chromosome carrying it, so that XCtX; c c mice have albino and pigmented patches. The X-autosome translocation T(X;16)16H or XT16H leads to preferential inactivation of the other X chromosome in female cells, so that XCtXT16H; c c mice are almost entirely white. However, they grow darker with age, as if reversal of inactivation of the c+ allele were taking place in increasing numbers of melanocytes. To test whether this is dependent only on age or whether it is related to the number of times the animal has moulted, hair was repeatedly plucked from selected areas at the early telogen stage when the follicles are also removed, assuming that the melanocytes or melanoblasts in that region of the skin would be forced to undergo further divisions to colonize the new follicles. The plucked areas grew darker at the same rate as the rest of the coat, suggesting that the progressive reversal of inactivation is dependent only on age. As direct examination of melanocytes in the follicles is difficult, they were examined in the choroid and the retinal pigment epithelium (RPE) of the eye. The frequency of the pigmented cells was lower in the choroid than in the RPE. Since the melanocytes in these structures are different in origin as well as in physical characteristics, it appears that cell type influences either reversal of inactivation, or the frequency with which the influence of the X chromosome extends to the albino locus.

2010 ◽  
Vol 51 (10) ◽  
pp. 4913 ◽  
Author(s):  
Tanya Tolmachova ◽  
Silene T. Wavre-Shapton ◽  
Alun R. Barnard ◽  
Robert E. MacLaren ◽  
Clare E. Futter ◽  
...  

2021 ◽  
Vol 48 (2) ◽  
pp. 76-80
Author(s):  
I. Mermeklieva ◽  
K. Kamenarova

Abstract Objective To describe a clinical case of rare eye diseases – Stargardt’s disease. Material and methods: A detailed clinical examination, fundus autofluorescence, optical coherence tomography and electrophysiological studies were performed. The clinical diagnosis was also genetically confirmed. Results A classic Stargardt’s disease phenotype was found in a 10-year old boy with decreased visual acuity, atrophy of the photoreceptors and retinal pigment epithelium layers in the macula, plus hypoautofluorescence in the fovea. In full-field ERG there was no diffuse cone involvement. Multifocal ERG demonstrated a lower cone activity in the area of the central macula in both eyes, which is characteristic for hereditary maculopathies and differentiates them from cone-rod dystrophies, in which generalized damage of the photoreceptors in the retina may be observed. The genetic studies identified two missense mutations: c.3113C> T (p.Ala1038Val) and c.1622T> C (p.Leu541Pro) in a cis-position and a missense mutation c.2588G> C (p.Gly863Ala) in the other allele of ABCA4 gene. The two pathogenic variants c.3113C> T and c.1622T> C formed a complex allele p. [A1038V; L541P], which was found in the genome of the asymptomatic mother. The other mutation c.2588G> C affects a highly conserved amino acid from the ABCA4 protein (p.Gly863Ala) and was inherited from the patient’s clinically healthy father, who was a heterozygous carrier. Conclusion The comprehensive clinical, electrophysiological and genetic testing of patients with rare hereditary retinal dystrophies is essential for the correct diagnosis and the choice of therapeutic behavior.


2005 ◽  
Vol 85 (3) ◽  
pp. 845-881 ◽  
Author(s):  
Olaf Strauss

Located between vessels of the choriocapillaris and light-sensitive outer segments of the photoreceptors, the retinal pigment epithelium (RPE) closely interacts with photoreceptors in the maintenance of visual function. Increasing knowledge of the multiple functions performed by the RPE improved the understanding of many diseases leading to blindness. This review summarizes the current knowledge of RPE functions and describes how failure of these functions causes loss of visual function. Mutations in genes that are expressed in the RPE can lead to photoreceptor degeneration. On the other hand, mutations in genes expressed in photoreceptors can lead to degenerations of the RPE. Thus both tissues can be regarded as a functional unit where both interacting partners depend on each other.


2020 ◽  
Vol 6 (1) ◽  
pp. 149-169
Author(s):  
Sarah J. Karlen ◽  
Eric B. Miller ◽  
Marie E. Burns

Photoreceptors are highly specialized sensory neurons with unique metabolic and physiological requirements. These requirements are partially met by Müller glia and cells of the retinal pigment epithelium (RPE), which provide essential metabolites, phagocytose waste, and control the composition of the surrounding microenvironment. A third vital supporting cell type, the retinal microglia, can provide photoreceptors with neurotrophic support or exacerbate neuroinflammation and hasten neuronal cell death. Understanding the physiological requirements for photoreceptor homeostasis and the factors that drive microglia to best promote photoreceptor survival has important implications for the treatment and prevention of blinding degenerative diseases like retinitis pigmentosa and age-related macular degeneration.


Nature ◽  
1968 ◽  
Vol 218 (5137) ◽  
pp. 183-184 ◽  
Author(s):  
I. GUSTAVSSON ◽  
M. FRACCARO ◽  
L. TIEPOLO ◽  
J. LINDSTEN

Author(s):  
P.J. Lea ◽  
M.J. Hollenberg

Our current understanding of mitochondrial ultrastructure has been derived primarily from thin sections using transmission electron microscopy (TEM). This information has been extrapolated into three dimensions by artist's impressions (1) or serial sectioning techniques in combination with computer processing (2). The resolution of serial reconstruction methods is limited by section thickness whereas artist's impressions have obvious disadvantages.In contrast, the new techniques of HRSEM used in this study (3) offer the opportunity to view simultaneously both the internal and external structure of mitochondria directly in three dimensions and in detail.The tridimensional ultrastructure of mitochondria from rat hepatocytes, retinal (retinal pigment epithelium), renal (proximal convoluted tubule) and adrenal cortex cells were studied by HRSEM. The specimens were prepared by aldehyde-osmium fixation in combination with freeze cleavage followed by partial extraction of cytosol with a weak solution of osmium tetroxide (4). The specimens were examined with a Hitachi S-570 scanning electron microscope, resolution better than 30 nm, where the secondary electron detector is located in the column directly above the specimen inserted within the objective lens.


Author(s):  
Kazushige Hirosawa ◽  
Eichi Yamada

The pigment epithelium is located between the choriocapillary and the visual cells. The pigment epithelial cell is characterized by a large amount of the smooth endoplasmic reticulum (SER) in its cytoplasm. In addition, the pigment epithelial cell of some lower vertebrate has myeloid body as a specialized form of the SER. Generally, SER is supposed to work in the lipid metabolism. However, the functions of abundant SER and myeloid body in the pigment epithelial cell are still in question. This paper reports an attempt, to depict the functions of these organelles in the frog retina by administering one of phospholipid precursors.


Author(s):  
G.E. Korte ◽  
M. Marko ◽  
G. Hageman

Sodium iodate iv. damages the retinal pigment epithelium (RPE) in rabbits. Where RPE does not regenerate (e.g., 1,2) Muller glial cells (MC) forma subretinal scar that replaces RPE. The MC response was studied by HVEM in 3D computer reconstructions of serial thick sections, made using the STEREC0N program (3), and the HVEM at the NYS Dept. of Health in Albany, NY. Tissue was processed for HVEM or immunofluorescence localization of a monoclonal antibody recognizing MG microvilli (4).


Author(s):  
Beth Burnside

The vertebrate photoreceptor provides a drammatic example of cell polarization. Specialized to carry out phototransduction at its distal end and to synapse with retinal interneurons at its proximal end, this long slender cell has a uniquely polarized morphology which is reflected in a similarly polarized cytoskeleton. Membranes bearing photopigment are localized in the outer segment, a modified sensory cilium. Sodium pumps which maintain the dark current critical to photosensory transduction are anchored along the inner segment plasma membrane between the outer segment and the nucleus.Proximal to the nucleus is a slender axon terminating in specialized invaginating synapses with other neurons of the retina. Though photoreceptor diameter is only 3-8u, its length from the tip of the outer segment to the synapse may be as great as 200μ. This peculiar linear cell morphology poses special logistical problems and has evoked interesting solutions for numerous cell functions. For example, the outer segment membranes turn over by means of a unique mechanism in which new disks are continuously added at the proximal base of the outer segment, while effete disks are discarded at the tip and phagocytosed by the retinal pigment epithelium. Outer segment proteins are synthesized in the Golgi near the nucleus and must be transported north through the inner segment to their sites of assembly into the outer segment, while synaptic proteins must be transported south through the axon to the synapse.The role of the cytoskeleton in photoreceptor motile processes is being intensely investigated in several laboratories.


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