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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans
Nature Genetics, Volume 40, No. 11, Year 2008
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Description
Many proteins necessary for sound transduction have been identified through positional cloning of genes that cause deafness1-3. We report here that mutations of LRTOMT are associated with profound nonsyndromic 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, detected by protein blot analyses. LRTOMT2 is a putative methyltransferase. During evolution, new transcripts can arise through partial or complete coalescence of genes4. We provide evidence that in the primate lineage LRTOMT evolved from the fusion of two neighboring ancestral genes, which exist as separate genes (Lrrc51 and Tomt) in rodents. © 2008 Nature Publishing Group.
Authors & Co-Authors
Ahmed, Zubair M.
United States, Bethesda
National Institute on Deafness and Other Communication Disorders Nidcd
Masmoudi, Saber
Tunisia, Sfax
Centre de Biotechnologie de Sfax
Kalay, Ersan
Turkey, Trabzon
Karadeniz Technical University
Belyantseva, Inna A.
United States, Bethesda
National Institute on Deafness and Other Communication Disorders Nidcd
Mosrati, Mohamed Ali
Tunisia, Sfax
Centre de Biotechnologie de Sfax
Collin, Rob W.J.
Netherlands, Nijmegen
Radboud University Medical Center
Riazuddin, Saima
United States, Bethesda
National Institute on Deafness and Other Communication Disorders Nidcd
Hmani-Aifa, Mounira
Tunisia, Sfax
Centre de Biotechnologie de Sfax
Venselaar, Hanka
Netherlands, Nijmegen
Radboud Universiteit
Kawar, Mayya N.
United States, Bethesda
National Institute on Deafness and Other Communication Disorders Nidcd
Tlili, Abdelaziz
Tunisia, Sfax
Centre de Biotechnologie de Sfax
van der Zwaag, Bert
Netherlands, Utrecht
Rudolf Magnus Institute of Neuroscience
Khan, Shahid Y.
Pakistan, Lahore
University of the Punjab
Ayadi, Leila
Tunisia, Sfax
Centre de Biotechnologie de Sfax
Riazuddin, S. Amer
Pakistan, Lahore
University of the Punjab
Morell, Robert J.
United States, Bethesda
National Institute on Deafness and Other Communication Disorders Nidcd
Griffith, Andrew J.
United States, Bethesda
National Institute on Deafness and Other Communication Disorders Nidcd
Charfedine, Ilhem
Tunisia, Sfax
Chu Habib Bourguiba
Ҫaylan, Refik
Turkey, Trabzon
Karadeniz Technical University
Oostrik, Jaap
Netherlands, Nijmegen
Radboud University Medical Center
Karaguzel, Ahmet
Turkey, Trabzon
Karadeniz Technical University
Ghorbel, Abdelmonem
Tunisia, Sfax
Chu Habib Bourguiba
Riazuddin, S.
Pakistan, Lahore
University of the Punjab
Friedman, Thomas B.
United States, Bethesda
National Institute on Deafness and Other Communication Disorders Nidcd
Ayadi, Hammadi
Tunisia, Sfax
Centre de Biotechnologie de Sfax
Kremer, Hannie P.H.
Netherlands, Nijmegen
Radboud University Medical Center
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Statistics
Citations: 74
Authors: 26
Affiliations: 9
Identifiers
Doi:
10.1038/ng.245
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Disability
Genetics And Genomics