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

Research output: Contribution to journalArticle

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Abstract

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.
Original languageEnglish
Pages (from-to)510-516
Number of pages7
JournalAmerican Journal of Human Genetics
DOIs
Publication statusPublished - 1 Jan 2005
Externally publishedYes

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Trichothiodystrophy Syndromes
Genetic Heterogeneity
Mutation
Genes
Transcription Factors
Amish
Hair Follicle
Nuclear Proteins
Intellectual Disability
DNA Repair
Hair
Fluorescent Antibody Technique
Fertility
Chromosomes
Skin

Cite this

Nakabayashi, K., Amann, D., Ren, Y., Saarialho-Kere, U., Avidan, N., Gentles, S., ... 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
Nakabayashi, Kazuhiko ; Amann, Daniela ; Ren, Yan ; Saarialho-Kere, Ulpu ; Avidan, Nili ; Gentles, Simone ; MacDonald, Jeffrey R. ; Puffenberger, Erik G. ; Christiano, Angela M. ; Martinez-Mir, Amalia ; Salas-Alanis, Julio C. ; Rizzo, Renata ; Vamos, Esther ; Raams, Anja ; Les, Clifford ; Seboun, Eric ; Jaspers, Nicolaas G.J. ; Beckmann, Jacques S. ; Jackson, Charles E. ; Scherer, Stephen W. / Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. In: American Journal of Human Genetics. 2005 ; pp. 510-516.
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title = "Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy",
abstract = "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.",
author = "Kazuhiko Nakabayashi and Daniela Amann and Yan Ren and Ulpu Saarialho-Kere and Nili Avidan and Simone Gentles and MacDonald, {Jeffrey R.} and Puffenberger, {Erik G.} and Christiano, {Angela M.} and Amalia Martinez-Mir and Salas-Alanis, {Julio C.} and Renata Rizzo and Esther Vamos and Anja Raams and Clifford Les and Eric Seboun and Jaspers, {Nicolaas G.J.} and Beckmann, {Jacques S.} and Jackson, {Charles E.} and Scherer, {Stephen W.}",
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Nakabayashi, K, Amann, D, Ren, Y, Saarialho-Kere, U, Avidan, N, Gentles, S, MacDonald, JR, Puffenberger, EG, Christiano, AM, Martinez-Mir, A, Salas-Alanis, JC, Rizzo, R, Vamos, E, Raams, A, Les, C, Seboun, E, Jaspers, NGJ, Beckmann, JS, Jackson, CE & Scherer, SW 2005, 'Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy', American Journal of Human Genetics, pp. 510-516. https://doi.org/10.1086/428141

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. / Nakabayashi, Kazuhiko; Amann, Daniela; Ren, Yan; Saarialho-Kere, Ulpu; Avidan, Nili; Gentles, Simone; MacDonald, Jeffrey R.; Puffenberger, Erik G.; Christiano, Angela M.; Martinez-Mir, Amalia; Salas-Alanis, Julio C.; Rizzo, Renata; Vamos, Esther; Raams, Anja; Les, Clifford; Seboun, Eric; Jaspers, Nicolaas G.J.; Beckmann, Jacques S.; Jackson, Charles E.; Scherer, Stephen W.

In: American Journal of Human Genetics, 01.01.2005, p. 510-516.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy

AU - Nakabayashi, Kazuhiko

AU - Amann, Daniela

AU - Ren, Yan

AU - Saarialho-Kere, Ulpu

AU - Avidan, Nili

AU - Gentles, Simone

AU - MacDonald, Jeffrey R.

AU - Puffenberger, Erik G.

AU - Christiano, Angela M.

AU - Martinez-Mir, Amalia

AU - Salas-Alanis, Julio C.

AU - Rizzo, Renata

AU - Vamos, Esther

AU - Raams, Anja

AU - Les, Clifford

AU - Seboun, Eric

AU - Jaspers, Nicolaas G.J.

AU - Beckmann, Jacques S.

AU - Jackson, Charles E.

AU - Scherer, Stephen W.

PY - 2005/1/1

Y1 - 2005/1/1

N2 - 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.

AB - 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.

U2 - 10.1086/428141

DO - 10.1086/428141

M3 - Article

SP - 510

EP - 516

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

ER -