Uncommon cytidine-homopolymer dimorphism in 5'-UTR of the human otoferlin gene

  • Authors:
    • Farhad Mirghomizadeh
    • Markus Pfister
    • Nikolaus Blin
    • Carsten M. Pusch
  • View Affiliations

  • Published online on: January 1, 2003     https://doi.org/10.3892/ijmm.11.1.63
  • Pages: 63-64
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Abstract

Human otoferlin, homologous to the Caenorhabditis elegans spermatogenesis factor FER-1 that was shown to be involved in membrane vesicle fusion, belongs to a group of membrane-anchored cytosolic proteins and is found expressed in brain, cochlear inner hair cells and vestibular type I sensory cells. Nonsense and missense mutations of OTOF lead to an autosomal recessive deafness phenotype (DFNB9). We describe here an unusual C-homopolymer dimorphism at position -136 of 5'-UTR of the OTOF short splice form. Although at first identified within a family with a hereditary component of hearing deficiency this C3/C5 dimorphism is found frequently in European populations (0.4 for C3, 0.6 for C5) and does not segregate with the deafness phenotype. The polymorphic site may become useful for studying the origin of different OTOF mutations within various populations, for assessing recombination events within large pedigrees as well as founder effects and for association studies in further deafness phenotypes.

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January 2003
Volume 11 Issue 1

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
Mirghomizadeh F, Pfister M, Blin N and Pusch CM: Uncommon cytidine-homopolymer dimorphism in 5'-UTR of the human otoferlin gene. Int J Mol Med 11: 63-64, 2003
APA
Mirghomizadeh, F., Pfister, M., Blin, N., & Pusch, C.M. (2003). Uncommon cytidine-homopolymer dimorphism in 5'-UTR of the human otoferlin gene. International Journal of Molecular Medicine, 11, 63-64. https://doi.org/10.3892/ijmm.11.1.63
MLA
Mirghomizadeh, F., Pfister, M., Blin, N., Pusch, C. M."Uncommon cytidine-homopolymer dimorphism in 5'-UTR of the human otoferlin gene". International Journal of Molecular Medicine 11.1 (2003): 63-64.
Chicago
Mirghomizadeh, F., Pfister, M., Blin, N., Pusch, C. M."Uncommon cytidine-homopolymer dimorphism in 5'-UTR of the human otoferlin gene". International Journal of Molecular Medicine 11, no. 1 (2003): 63-64. https://doi.org/10.3892/ijmm.11.1.63