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Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans
Many proteins necessary for sound transduction have been discovered through positional cloning of genes that cause deafness(1–3). In this study, we report that mutations of LRTOMT are associated with profound non-syndromic hearing loss at the DFNB63 locus on human chromosome 11q13.3-q13.4. LRTOMT ha...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2008
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404732/ https://www.ncbi.nlm.nih.gov/pubmed/18953341 http://dx.doi.org/10.1038/ng.245 |
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| author | Ahmed, Zubair M Masmoudi, Saber Kalay, Ersan Belyantseva, Inna A Mosrati, Mohamed Ali Collin, Rob W J Riazuddin, Saima Hmani-Aifa, Mounira Venselaar, Hanka Kawar, Mayya N Abdelaziz, Tlili van der Zwaag, Bert Khan, Shahid Y Ayadi, Leila Riazuddin, S Amer Morell, Robert J Griffith, Andrew J Charfedine, Ilhem Çaylan, Refik Oostrik, Jaap Karaguzel, Ahmet Ghorbel, Abdelmonem Riazuddin, Sheikh Friedman, Thomas B Ayadi, Hammadi Kremer, Hannie |
| author_facet | Ahmed, Zubair M Masmoudi, Saber Kalay, Ersan Belyantseva, Inna A Mosrati, Mohamed Ali Collin, Rob W J Riazuddin, Saima Hmani-Aifa, Mounira Venselaar, Hanka Kawar, Mayya N Abdelaziz, Tlili van der Zwaag, Bert Khan, Shahid Y Ayadi, Leila Riazuddin, S Amer Morell, Robert J Griffith, Andrew J Charfedine, Ilhem Çaylan, Refik Oostrik, Jaap Karaguzel, Ahmet Ghorbel, Abdelmonem Riazuddin, Sheikh Friedman, Thomas B Ayadi, Hammadi Kremer, Hannie |
| author_sort | Ahmed, Zubair M |
| collection | PubMed |
| description | Many proteins necessary for sound transduction have been discovered through positional cloning of genes that cause deafness(1–3). In this study, we report that mutations of LRTOMT are associated with profound non-syndromic hearing loss at the DFNB63 locus on human chromosome 11q13.3-q13.4. LRTOMT has two alternative reading frames and encodes two different proteins, LRTOMT1 and LRTOMT2, that are detected by Western blot analyses. LRTOMT2 is a putative methyltransferase. During evolution, novel transcripts can arise through partial or complete coalescence of genes(4). We provide evidence that in the primate lineage LRTOMT evolved from the fusion of two neighboring ancestral genes, which exist as separate genes (Lrrc51and Tomt) in rodents. |
| format | Online Article Text |
| id | pubmed-3404732 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2008 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-34047322012-07-25 Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans Ahmed, Zubair M Masmoudi, Saber Kalay, Ersan Belyantseva, Inna A Mosrati, Mohamed Ali Collin, Rob W J Riazuddin, Saima Hmani-Aifa, Mounira Venselaar, Hanka Kawar, Mayya N Abdelaziz, Tlili van der Zwaag, Bert Khan, Shahid Y Ayadi, Leila Riazuddin, S Amer Morell, Robert J Griffith, Andrew J Charfedine, Ilhem Çaylan, Refik Oostrik, Jaap Karaguzel, Ahmet Ghorbel, Abdelmonem Riazuddin, Sheikh Friedman, Thomas B Ayadi, Hammadi Kremer, Hannie Nat Genet Article Many proteins necessary for sound transduction have been discovered through positional cloning of genes that cause deafness(1–3). In this study, we report that mutations of LRTOMT are associated with profound non-syndromic hearing loss at the DFNB63 locus on human chromosome 11q13.3-q13.4. LRTOMT has two alternative reading frames and encodes two different proteins, LRTOMT1 and LRTOMT2, that are detected by Western blot analyses. LRTOMT2 is a putative methyltransferase. During evolution, novel transcripts can arise through partial or complete coalescence of genes(4). We provide evidence that in the primate lineage LRTOMT evolved from the fusion of two neighboring ancestral genes, which exist as separate genes (Lrrc51and Tomt) in rodents. 2008-10-26 2008-11 /pmc/articles/PMC3404732/ /pubmed/18953341 http://dx.doi.org/10.1038/ng.245 Text en Users may view, print, copy, download and 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 Ahmed, Zubair M Masmoudi, Saber Kalay, Ersan Belyantseva, Inna A Mosrati, Mohamed Ali Collin, Rob W J Riazuddin, Saima Hmani-Aifa, Mounira Venselaar, Hanka Kawar, Mayya N Abdelaziz, Tlili van der Zwaag, Bert Khan, Shahid Y Ayadi, Leila Riazuddin, S Amer Morell, Robert J Griffith, Andrew J Charfedine, Ilhem Çaylan, Refik Oostrik, Jaap Karaguzel, Ahmet Ghorbel, Abdelmonem Riazuddin, Sheikh Friedman, Thomas B Ayadi, Hammadi Kremer, Hannie Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans |
| title | Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans |
| title_full | Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans |
| title_fullStr | Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans |
| title_full_unstemmed | Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans |
| title_short | Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans |
| title_sort | mutations of lrtomt, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404732/ https://www.ncbi.nlm.nih.gov/pubmed/18953341 http://dx.doi.org/10.1038/ng.245 |
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