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Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
Bauwens, Miriam; Celik, Elifnaz; Zur, Dinah; Lin, Siying; Quinodoz, Mathieu; Michaelides, Michel; Webster, Andrew R; Van Den Broeck, Filip; Leroy, Bart P; Rizel, Leah; Moye, Abigail R; Meunier, Audrey; Tran, Hoai Viet; Moulin, Alexandre P; Mahieu, Quinten; Van Heetvelde, Mattias; Arno, Gavin; Rivolta, Carlo; De Baere, Elfride; Ben-Yosef, Tamar.
  • Bauwens M; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.
  • Celik E; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland; Department of Ophthalmology, University Hospital Basel, 4031 Basel, Switzerland.
  • Zur D; Ophthalmology Division, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Lin S; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the Institute of Ophthalmology, London, UK; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Quinodoz M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland; Department of Ophthalmology, University Hospital Basel, 4031 Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK.
  • Michaelides M; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the Institute of Ophthalmology, London, UK; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Webster AR; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the Institute of Ophthalmology, London, UK; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Van Den Broeck F; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Head & Skin, Ghent University, 9000 Ghent, Belgium.
  • Leroy BP; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Head & Skin, Ghent University, 9000 Ghent, Belgium; Department of Ophthalmology, Ghent University Hospital, 9000 Ghent, Belgium; The Division of Ophthalmology, University of Pennsylvania, Philadelphia, PA
  • Rizel L; The Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel.
  • Moye AR; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland; Department of Ophthalmology, University Hospital Basel, 4031 Basel, Switzerland.
  • Meunier A; Department of Ophthalmology, Centre Hospitalier Universitaire Saint-Pierre, 1000 Brussels, Belgium.
  • Tran HV; Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, 1004 Lausanne, Switzerland; Centre for Gene Therapy and Regenerative Medicine, King's College London, London, UK.
  • Moulin AP; Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, 1004 Lausanne, Switzerland.
  • Mahieu Q; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.
  • Van Heetvelde M; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.
  • Arno G; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the Institute of Ophthalmology, London, UK; Institute of Ophthalmology, University College London, London EC1V 9EL, UK; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS F
  • Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031 Basel, Switzerland; Department of Ophthalmology, University Hospital Basel, 4031 Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK.
  • De Baere E; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.
  • Ben-Yosef T; The Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel. Electronic address: benyosef@technion.ac.il.
Am J Hum Genet ; 111(2): 393-402, 2024 Feb 01.
Article en En | MEDLINE | ID: mdl-38272031
ABSTRACT
Sterile alpha motif domain containing 7 (SAMD7) is a component of the Polycomb repressive complex 1, which inhibits transcription of many genes, including those activated by the transcription factor Cone-Rod Homeobox (CRX). Here we report bi-allelic mutations in SAMD7 as a cause of autosomal-recessive macular dystrophy with or without cone dysfunction. Four of these mutations affect splicing, while another mutation is a missense variant that alters the repressive effect of SAMD7 on CRX-dependent promoter activity, as shown by in vitro assays. Immunostaining of human retinal sections revealed that SAMD7 is localized in the nuclei of both rods and cones, as well as in those of cells belonging to the inner nuclear layer. These results place SAMD7 as a gene crucial for human retinal function and demonstrate a significant difference in the role of SAMD7 between the human and the mouse retina.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías del Ojo / Degeneración Macular Límite: Animals / Humans Idioma: En Año: 2024 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías del Ojo / Degeneración Macular Límite: Animals / Humans Idioma: En Año: 2024 Tipo del documento: Article