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

Détails

ID Serval
serval:BIB_09C08E22EE13
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
Périodique
American journal of human genetics
Auteur(s)
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., Beckmann J.S., Jackson C.E., Scherer S.W.
ISSN
0002-9297
Statut éditorial
Publié
Date de publication
2005
Peer-reviewed
Oui
Volume
76
Numéro
3
Pages
510-6
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Résumé
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 brittle-hair 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 C7orf11 mutations, together with the protein's nuclear localization, C7orf11 may be involved in transcription but not DNA repair.
Mots-clé
Amino Acid Sequence, Base Sequence, Chromosomes, Human, Pair 7, DNA, DNA Mutational Analysis, Ectodermal Dysplasia, Female, Hair, Humans, Male, Molecular Sequence Data, Mutation, Open Reading Frames, Pedigree, Photosensitivity Disorders, Sequence Homology, Amino Acid, Syndrome
Pubmed
Web of science
Open Access
Oui
Création de la notice
25/01/2008 16:18
Dernière modification de la notice
20/08/2019 12:31
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