Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy

Kazuhiko Nakabayashi, Daniela Amann, Yan Ren, Ulpu Saarialho-Kere, Nili Avidan, Simone Gentles, Jeffrey R. MacDonald, Erik G. Puffenberger, Angela M. Christiano, Amalia Martinez-Mir, Julio C. Salas-Alanis, Renata Rizzo, Esther Vamos, Anja Raams, Clifford Les, Eric Seboun, Nicolaas G.J. Jaspers, Jacques S. Beckmann, Charles E. Jackson, Stephen W. Scherer

Resultado de la investigación

50 Citas (Scopus)

Resumen

We have identified C7orf11, which localizes to the nucleus and is expressed in fetal hair follicles, as the first disease gene for nonphotosensitive trichothiodystrophy (TTD). C7orf11 maps to chromosome 7p14, and the disease locus has been designated "TTDN1" (TTD nonphotosensitive 1). Mutations were found in patients with Amish brittlehair syndrome and in other nonphotosensititive TTD cases with mental retardation and decreased fertility but not in patients with Sabinas syndrome or Pollitt syndrome. Therefore, genetic heterogeneity in nonphotosensitive TTD is a feature similar to that observed in photosensitive TTD, which is caused by mutations in transcription factor II H (TFIIH) subunit genes. Comparative immunofluorescence analysis, however, suggests that C7orf11 does not influence TFIIH directly. Given the absence of cutaneous photosensitivity in the patients with C7orfll mutations, together with the protein's nuclear localization, C7orf11 may be involved in transcription but not DNA repair.
Idioma originalEnglish
Páginas (desde-hasta)510-516
Número de páginas7
PublicaciónAmerican Journal of Human Genetics
DOI
EstadoPublished - 1 ene 2005
Publicado de forma externa

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    Nakabayashi, K., Amann, D., Ren, Y., Saarialho-Kere, U., Avidan, N., Gentles, S., MacDonald, J. R., Puffenberger, E. G., Christiano, A. M., Martinez-Mir, A., Salas-Alanis, J. C., Rizzo, R., Vamos, E., Raams, A., Les, C., Seboun, E., Jaspers, N. G. J., Beckmann, J. S., Jackson, C. E., & Scherer, S. W. (2005). Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. American Journal of Human Genetics, 510-516. https://doi.org/10.1086/428141