Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease

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Título: Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease
Autor/es: Uribe, Mary Luz | Haro, Carmen | Ventero, María Paz | Campello Blasco, Laura | Cruces, Jesús | Martín-Nieto, José
Grupo/s de investigación o GITE: Genética Humana y de Mamíferos (GHM) | Neurobiología del Sistema Visual y Terapia de Enfermedades Neurodegenerativas (NEUROVIS)
Centro, Departamento o Servicio: Universidad de Alicante. Departamento de Fisiología, Genética y Microbiología
Palabras clave: Retina | POMGnT1 | Gene expression | Dystropglycanopathies | Genetic diseases
Área/s de conocimiento: Genética | Biología Celular
Fecha de publicación: 16-jun-2016
Editor: Molecular Vision
Cita bibliográfica: Molecular Vision. 2016, 22: 658-673
Resumen: Purpose: The POMGNT1 gene, encoding protein O-linked-mannose β-1,2-N-acetylglucosaminyltransferase 1, is associated with muscle-eye-brain disease (MEB) and other dystroglycanopathies. This gene’s lack of function or expression causes hypoglycosylation of α-dystroglycan (α-DG) in the muscle and the central nervous system, including the brain and the retina. The ocular symptoms of patients with MEB include retinal degeneration and detachment, glaucoma, and abnormal electroretinogram. Nevertheless, the POMGnT1 expression pattern in the healthy mammalian retina has not yet been investigated. In this work, we address the expression of the POMGNT1 gene in the healthy retina of a variety of mammals and characterize the distribution pattern of this gene in the adult mouse retina and the 661W photoreceptor cell line. Methods: Using reverse transcription (RT)–PCR and immunoblotting, we studied POMGNT1 expression at the mRNA and protein levels in various mammalian species, from rodents to humans. Immunofluorescence confocal microscopy analyses were performed to characterize the distribution profile of its protein product in mouse retinal sections and in 661W cultured cells. The intranuclear distribution of POMT1 and POMT2, the two enzymes preceding POMGnT1 in the α-DG O-mannosyl glycosylation pathway, was also analyzed. Results: POMGNT1 mRNA and its encoded protein were expressed in the neural retina of all mammals studied. POMGnT1 was located in the cytoplasmic fraction in the mouse retina and concentrated in the myoid portion of the photoreceptor inner segments, where the protein colocalized with GM130, a Golgi complex marker. The presence of POMGnT1 in the Golgi complex was also evident in 661W cells. However, and in contrast to retinal tissue, POMGnT1 additionally accumulated in the nucleus of the 661W photoreceptors. Colocalization was found within this organelle between POMGnT1 and POMT1/2, the latter associated with euchromatic regions of the nucleus. Conclusions: Our results indicate that POMGnT1 participates not only in the synthesis of O-mannosyl glycans added to α-DG in the Golgi complex but also in the glycosylation of other yet-to-be-identified proteins in the nucleus of mouse photoreceptors.
Patrocinador/es: This research was funded by grants from the Instituto de Salud Carlos III (Spain) refs. PI12/00157 and PI15/00073, both cofinanced by the European Regional Development Fund (ERDF/FEDER). M.L.U. was the recipient of a predoctoral contract from the Universidad de Alicante.
URI: http://hdl.handle.net/10045/57385
ISSN: 1090-0535
Idioma: eng
Tipo: info:eu-repo/semantics/article
Derechos: © 2016 Molecular Vision
Revisión científica: si
Versión del editor: http://www.molvis.org/molvis/v22/658
Aparece en las colecciones:INV - GHM - Artículos de Revistas
INV - NEUROVIS - Artículos de Revistas

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