All mammals ancestrally possessed two types of cone pigments, an arrangement that persists in nearly all contemporary species. However, the absence of one of these cone types, the short-wavelength-sensitive (SWS) cone, has recently been established in several delphinoid cetacean species, indicating that the loss of this pigment type may be widespread among cetaceans. To evaluate the functional condition of SWS cones in cetaceans, partial SWS cone-opsin gene sequences were obtained from nuclear DNA for 16 species representing 12 out of the 14 extant mysticete (baleen) and odontocete (toothed) families. For all these species one or more mutations were identified that indicate that their SWS cone-opsin genes are pseudogenes and thus do not code for functional visual pigment proteins. Parsimonious interpretation of the distribution of some of these mis-sense mutations indicates that the conversion of cetacean SWS coneopsin genes to pseudogenes probably occurred before the divergences of the mysticete and odontocete suborders. Thus, in the absence of dramatic homoplasy, all modern cetaceans lack functional SWS cone visual pigments and, by extension, the visual capacities that such pigments typically support.
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http://dx.doi.org/10.1098/rspb.2002.2278 | DOI Listing |
Stem Cell Res
December 2024
Ophthalmology Research Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address:
Retinitis Pigmentosa type 25 (RP25) is a form of inherited retinal dystrophy characterized by a progressive loss of rod photoreceptors, subsequent degeneration of cone photoreceptors, and eventually, the retinal pigment epithelium. Caused by mutations in the EYS gene, it is believed to be critical for the structural and functional integrity of the retina. Using a non-integrative RNA reprogramming method, we have generated human induced pluripotent stem cell (hiPSC) lines from RP25 patient and from carriers but asymptomatic daughters.
View Article and Find Full Text PDFFront Med (Lausanne)
December 2024
TowardPi Medical Technology Beijing, Beijing, China.
This study aims to investigate the protective effects of docosahexaenoic acid (DHA) combined with bilberry extract (BE) on myopic guinea pigs. In total, 105 healthy pigmented guinea pigs aged 2 weeks were selected and randomly divided into five groups. The normal control (NC) group received no treatment, while the experimental groups wore -6.
View Article and Find Full Text PDFNeurobiol Dis
December 2024
Department of Physiology & Neuroscience, Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. Electronic address:
Huntington's disease (HD) is caused by the expansion of a CAG repeat, encoding a string of glutamines (polyQ) in the first exon of the huntingtin gene (HTTex1). This mutant huntingtin protein (mHTT) with extended polyQ forms aggregates in cortical and striatal neurons, causing cell damage and death. The retina is part of the central nervous system (CNS), and visual deficits and structural abnormalities in the retina of HD patients have been observed.
View Article and Find Full Text PDFPhotodiagnosis Photodyn Ther
December 2024
Department of Ophthalmology, Tianjin Medical University General Hospital, Tianjin, China, Ministry of Education International Joint Laboratory of Ocular Diseases, Tianjin, China, Tianjin Key Laboratory of Ocular Trauma, Tianjin, China, Tianjin Institute of Eye Health and Eye Diseases, Tianjin, China, China-UK "Belt and Road" Ophthalmology. Electronic address:
Background: This study investigated the association between photoreceptor structural restoration and visual function outcomes in patients undergoing surgery for closed macular holes (MHs). Using adaptive optics scanning laser ophthalmoscopy (AOSLO) and microperimetry, we aimed to provide a more detailed understanding of photoreceptor recovery and visual improvement in closed MHs.
Methods: We conducted a retrospective observational study of 31 eyes of 28 patients who underwent vitrectomy with internal limiting membrane (ILM) peeling to treat idiopathic MHs.
Sci Rep
December 2024
INCI-UPR3212-CNRS, 8 Allée du Général Rouvillois, 67000, Strasbourg, France.
Mutations in the gene ABCA4 coding for photoreceptor-specific ATP-binding cassette subfamily A member 4, are responsible for Stargardts Disease type 1 (STGD1), the most common form of inherited macular degeneration. STGD1 typically declares early in life and leads to severe visual handicap. Abca4 gene-deletion mouse models of STGD1 accumulate lipofuscin, a hallmark of the disease, but unlike the human disease show no or only moderate structural changes and no functional decline.
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