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Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Although ribosomes are ubiquitously expressed and essential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs (snoRNAs) are evolutionarily conserved non-protein...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717/ https://www.ncbi.nlm.nih.gov/pubmed/27571260 http://dx.doi.org/10.1038/ng.3661 |
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| author | Jenkinson, Emma M. Rodero, Mathieu P. Kasher, Paul R. Uggenti, Carolina Oojageer, Anthony Goosey, Laurence C. Rose, Yohann Kershaw, Christopher J. Urquhart, Jill E. Williams, Simon G. Bhaskar, Sanjeev S. O’Sullivan, James Baerlocher, Gabriela M. Haubitz, Monika Aubert, Geraldine Barañano, Kristin W. Barnicoat, Angela J. Battini, Roberta Berger, Andrea Blair, Edward M. Brunstrom-Hernandez, Janice E. Buckard, Johannes A. Cassiman, David M. Caumes, Rosaline Cordelli, Duccio M. De Waele, Liesbeth M. Fay, Alexander J. Ferreira, Patrick Fletcher, Nicholas A. Fryer, Alan E. Goel, Himanshu Hemingway, Cheryl A. Henneke, Marco Hughes, Imelda Jefferson, Rosalind J. Kumar, Ram Lagae, Lieven Landrieu, Pierre G. Lourenço, Charles M. Malpas, Timothy J. Mehta, Sarju G. Metz, Imke Naidu, Sakkubai Õunap, Katrin Panzer, Axel Prabhakar, Prab Quaghebeur, Geraldine Schiffmann, Raphael Sherr, Elliott H. Sinnathuray, Kanaga R. Soh, Calvin Stewart, Helen S. Stone, John Van Esch, Hilde Van Mol, Christine E.G. Vanderver, Adeline Wakeling, Emma L. Whitney, Andrea Pavitt, Graham D. Griffiths-Jones, Sam Rice, Gillian I. Revy, Patrick van der Knaap, Marjo S. Livingston, John H. O’Keefe, Raymond T. Crow, Yanick J. |
| author_facet | Jenkinson, Emma M. Rodero, Mathieu P. Kasher, Paul R. Uggenti, Carolina Oojageer, Anthony Goosey, Laurence C. Rose, Yohann Kershaw, Christopher J. Urquhart, Jill E. Williams, Simon G. Bhaskar, Sanjeev S. O’Sullivan, James Baerlocher, Gabriela M. Haubitz, Monika Aubert, Geraldine Barañano, Kristin W. Barnicoat, Angela J. Battini, Roberta Berger, Andrea Blair, Edward M. Brunstrom-Hernandez, Janice E. Buckard, Johannes A. Cassiman, David M. Caumes, Rosaline Cordelli, Duccio M. De Waele, Liesbeth M. Fay, Alexander J. Ferreira, Patrick Fletcher, Nicholas A. Fryer, Alan E. Goel, Himanshu Hemingway, Cheryl A. Henneke, Marco Hughes, Imelda Jefferson, Rosalind J. Kumar, Ram Lagae, Lieven Landrieu, Pierre G. Lourenço, Charles M. Malpas, Timothy J. Mehta, Sarju G. Metz, Imke Naidu, Sakkubai Õunap, Katrin Panzer, Axel Prabhakar, Prab Quaghebeur, Geraldine Schiffmann, Raphael Sherr, Elliott H. Sinnathuray, Kanaga R. Soh, Calvin Stewart, Helen S. Stone, John Van Esch, Hilde Van Mol, Christine E.G. Vanderver, Adeline Wakeling, Emma L. Whitney, Andrea Pavitt, Graham D. Griffiths-Jones, Sam Rice, Gillian I. Revy, Patrick van der Knaap, Marjo S. Livingston, John H. O’Keefe, Raymond T. Crow, Yanick J. |
| author_sort | Jenkinson, Emma M. |
| collection | PubMed |
| description | Although ribosomes are ubiquitously expressed and essential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs (snoRNAs) are evolutionarily conserved non-protein encoding RNAs involved in ribosome biogenesis. Here we show that biallelic mutations in the gene SNORD118, encoding the box C/D snoRNA U8, cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (LCC), presenting at any age from early childhood to late adulthood. These mutations affect U8 expression, processing and protein binding and thus implicate U8 as essential in cerebral vascular homeostasis. |
| format | Online Article Text |
| id | pubmed-5045717 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2016 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-50457172017-02-28 Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts Jenkinson, Emma M. Rodero, Mathieu P. Kasher, Paul R. Uggenti, Carolina Oojageer, Anthony Goosey, Laurence C. Rose, Yohann Kershaw, Christopher J. Urquhart, Jill E. Williams, Simon G. Bhaskar, Sanjeev S. O’Sullivan, James Baerlocher, Gabriela M. Haubitz, Monika Aubert, Geraldine Barañano, Kristin W. Barnicoat, Angela J. Battini, Roberta Berger, Andrea Blair, Edward M. Brunstrom-Hernandez, Janice E. Buckard, Johannes A. Cassiman, David M. Caumes, Rosaline Cordelli, Duccio M. De Waele, Liesbeth M. Fay, Alexander J. Ferreira, Patrick Fletcher, Nicholas A. Fryer, Alan E. Goel, Himanshu Hemingway, Cheryl A. Henneke, Marco Hughes, Imelda Jefferson, Rosalind J. Kumar, Ram Lagae, Lieven Landrieu, Pierre G. Lourenço, Charles M. Malpas, Timothy J. Mehta, Sarju G. Metz, Imke Naidu, Sakkubai Õunap, Katrin Panzer, Axel Prabhakar, Prab Quaghebeur, Geraldine Schiffmann, Raphael Sherr, Elliott H. Sinnathuray, Kanaga R. Soh, Calvin Stewart, Helen S. Stone, John Van Esch, Hilde Van Mol, Christine E.G. Vanderver, Adeline Wakeling, Emma L. Whitney, Andrea Pavitt, Graham D. Griffiths-Jones, Sam Rice, Gillian I. Revy, Patrick van der Knaap, Marjo S. Livingston, John H. O’Keefe, Raymond T. Crow, Yanick J. Nat Genet Article Although ribosomes are ubiquitously expressed and essential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs (snoRNAs) are evolutionarily conserved non-protein encoding RNAs involved in ribosome biogenesis. Here we show that biallelic mutations in the gene SNORD118, encoding the box C/D snoRNA U8, cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (LCC), presenting at any age from early childhood to late adulthood. These mutations affect U8 expression, processing and protein binding and thus implicate U8 as essential in cerebral vascular homeostasis. 2016-08-29 2016-10 /pmc/articles/PMC5045717/ /pubmed/27571260 http://dx.doi.org/10.1038/ng.3661 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article Jenkinson, Emma M. Rodero, Mathieu P. Kasher, Paul R. Uggenti, Carolina Oojageer, Anthony Goosey, Laurence C. Rose, Yohann Kershaw, Christopher J. Urquhart, Jill E. Williams, Simon G. Bhaskar, Sanjeev S. O’Sullivan, James Baerlocher, Gabriela M. Haubitz, Monika Aubert, Geraldine Barañano, Kristin W. Barnicoat, Angela J. Battini, Roberta Berger, Andrea Blair, Edward M. Brunstrom-Hernandez, Janice E. Buckard, Johannes A. Cassiman, David M. Caumes, Rosaline Cordelli, Duccio M. De Waele, Liesbeth M. Fay, Alexander J. Ferreira, Patrick Fletcher, Nicholas A. Fryer, Alan E. Goel, Himanshu Hemingway, Cheryl A. Henneke, Marco Hughes, Imelda Jefferson, Rosalind J. Kumar, Ram Lagae, Lieven Landrieu, Pierre G. Lourenço, Charles M. Malpas, Timothy J. Mehta, Sarju G. Metz, Imke Naidu, Sakkubai Õunap, Katrin Panzer, Axel Prabhakar, Prab Quaghebeur, Geraldine Schiffmann, Raphael Sherr, Elliott H. Sinnathuray, Kanaga R. Soh, Calvin Stewart, Helen S. Stone, John Van Esch, Hilde Van Mol, Christine E.G. Vanderver, Adeline Wakeling, Emma L. Whitney, Andrea Pavitt, Graham D. Griffiths-Jones, Sam Rice, Gillian I. Revy, Patrick van der Knaap, Marjo S. Livingston, John H. O’Keefe, Raymond T. Crow, Yanick J. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts |
| title | Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts |
| title_full | Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts |
| title_fullStr | Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts |
| title_full_unstemmed | Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts |
| title_short | Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts |
| title_sort | mutations in snord118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717/ https://www.ncbi.nlm.nih.gov/pubmed/27571260 http://dx.doi.org/10.1038/ng.3661 |
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