Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

Zubair M. Ahmed, Saber Masmoudi, Ersan Kalay, Inna A. Belyantseva, Mohamed Ali Mosrati, Rob W J Collin, Saima Riazuddin, Mounira Hmani-Aifa, Hanka Venselaar, Mayya N. Kawar, Abdelaziz Tlili, Bert van der Zwaag, Shahid Khan, Leila Ayadi, Sheikh Amer Riazuddin, Robert J. Morell, Andrew J. Griffith, Ilhem Charfedine, Refik Ҫaylan, Jaap OostrikAhmet Karaguzel, Abdelmonem Ghorbel, Sheikh Riazuddin, Thomas B. Friedman, Hammadi Ayadi, Hannie Kremer

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)1335-1340
Number of pages6
JournalNature Genetics
Volume40
Issue number11
DOIs
Publication statusPublished - 2008
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics

Cite this

Ahmed, Z. M., Masmoudi, S., Kalay, E., Belyantseva, I. A., Mosrati, M. A., Collin, R. W. J., ... Kremer, H. (2008). Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nature Genetics, 40(11), 1335-1340. https://doi.org/10.1038/ng.245