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Identification and functional analysis of novel THAP1 mutations.

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Identification and functional analysis of novel THAP1 mutations. / Lohmann, Katja; Uflacker, Nils; Erogullari, Alev; Lohnau, Thora; Winkler, Susen; Dendorfer, Andreas; Schneider, Susanne A; Osmanovic, Alma; Svetel, Marina; Ferbert, Andreas; Zittel, Simone; Kühn, Andrea A; Schmidt, Alexander; Altenmüller, Eckart; Münchau, Alexander; Kamm, Christoph; Wittstock, Matthias; Kupsch, Andreas; Moro, Elena; Volkmann, Jens; Kostic, Vladimir; Kaiser, Frank J; Klein, Christine; Brüggemann, Norbert.

In: EUR J HUM GENET, Vol. 20, No. 2, 2, 2012, p. 171-175.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Lohmann, K, Uflacker, N, Erogullari, A, Lohnau, T, Winkler, S, Dendorfer, A, Schneider, SA, Osmanovic, A, Svetel, M, Ferbert, A, Zittel, S, Kühn, AA, Schmidt, A, Altenmüller, E, Münchau, A, Kamm, C, Wittstock, M, Kupsch, A, Moro, E, Volkmann, J, Kostic, V, Kaiser, FJ, Klein, C & Brüggemann, N 2012, 'Identification and functional analysis of novel THAP1 mutations.', EUR J HUM GENET, vol. 20, no. 2, 2, pp. 171-175. <http://www.ncbi.nlm.nih.gov/pubmed/21847143?dopt=Citation>

APA

Lohmann, K., Uflacker, N., Erogullari, A., Lohnau, T., Winkler, S., Dendorfer, A., Schneider, S. A., Osmanovic, A., Svetel, M., Ferbert, A., Zittel, S., Kühn, A. A., Schmidt, A., Altenmüller, E., Münchau, A., Kamm, C., Wittstock, M., Kupsch, A., Moro, E., ... Brüggemann, N. (2012). Identification and functional analysis of novel THAP1 mutations. EUR J HUM GENET, 20(2), 171-175. [2]. http://www.ncbi.nlm.nih.gov/pubmed/21847143?dopt=Citation

Vancouver

Lohmann K, Uflacker N, Erogullari A, Lohnau T, Winkler S, Dendorfer A et al. Identification and functional analysis of novel THAP1 mutations. EUR J HUM GENET. 2012;20(2):171-175. 2.

Bibtex

@article{53807ac2e03444c0b618c6e0dd2f3625,
title = "Identification and functional analysis of novel THAP1 mutations.",
abstract = "Mutations in THAP1 have been associated with dystonia 6 (DYT6). THAP1 encodes a transcription factor that represses the expression of DYT1. To further evaluate the mutational spectrum of THAP1 and its associated phenotype, we sequenced THAP1 in 567 patients with focal (n = 461), segmental (n = 68), or generalized dystonia (n = 38). We identified 10 novel variants, including six missense substitutions within the DNA-binding Thanatos-associated protein domain (Arg13His, Lys16Glu, His23Pro, Lys24Glu, Pro26Leu, Ile80Val), a 1bp-deletion downstream of the nuclear localization signal (Asp191Thrfs*9), and three alterations in the untranslated regions. The effect of the missense variants was assessed using prediction tools and luciferase reporter gene assays. This indicated the Ile80Val substitution as a benign variant. The subcellular localization of Asp191Thrfs*9 suggests a disturbed nuclear import for this mutation. Thus, we consider six of the 10 novel variants as pathogenic mutations accounting for a mutation frequency of 1.1%. Mutation carriers presented mainly with early onset dystonia (",
keywords = "Adult, Humans, Male, Aged, Female, Middle Aged, Adolescent, Young Adult, Polymorphism, Genetic, Child, Child, Preschool, Genotype, Protein Transport, Age of Onset, Gene Frequency, Genetic Association Studies, *Mutation, Apoptosis Regulatory Proteins/*genetics/*metabolism, DNA-Binding Proteins/*genetics/*metabolism, Dystonia/epidemiology/genetics/metabolism, Nuclear Proteins/*genetics/*metabolism, Adult, Humans, Male, Aged, Female, Middle Aged, Adolescent, Young Adult, Polymorphism, Genetic, Child, Child, Preschool, Genotype, Protein Transport, Age of Onset, Gene Frequency, Genetic Association Studies, *Mutation, Apoptosis Regulatory Proteins/*genetics/*metabolism, DNA-Binding Proteins/*genetics/*metabolism, Dystonia/epidemiology/genetics/metabolism, Nuclear Proteins/*genetics/*metabolism",
author = "Katja Lohmann and Nils Uflacker and Alev Erogullari and Thora Lohnau and Susen Winkler and Andreas Dendorfer and Schneider, {Susanne A} and Alma Osmanovic and Marina Svetel and Andreas Ferbert and Simone Zittel and K{\"u}hn, {Andrea A} and Alexander Schmidt and Eckart Altenm{\"u}ller and Alexander M{\"u}nchau and Christoph Kamm and Matthias Wittstock and Andreas Kupsch and Elena Moro and Jens Volkmann and Vladimir Kostic and Kaiser, {Frank J} and Christine Klein and Norbert Br{\"u}ggemann",
year = "2012",
language = "English",
volume = "20",
pages = "171--175",
journal = "EUR J HUM GENET",
issn = "1018-4813",
publisher = "NATURE PUBLISHING GROUP",
number = "2",

}

RIS

TY - JOUR

T1 - Identification and functional analysis of novel THAP1 mutations.

AU - Lohmann, Katja

AU - Uflacker, Nils

AU - Erogullari, Alev

AU - Lohnau, Thora

AU - Winkler, Susen

AU - Dendorfer, Andreas

AU - Schneider, Susanne A

AU - Osmanovic, Alma

AU - Svetel, Marina

AU - Ferbert, Andreas

AU - Zittel, Simone

AU - Kühn, Andrea A

AU - Schmidt, Alexander

AU - Altenmüller, Eckart

AU - Münchau, Alexander

AU - Kamm, Christoph

AU - Wittstock, Matthias

AU - Kupsch, Andreas

AU - Moro, Elena

AU - Volkmann, Jens

AU - Kostic, Vladimir

AU - Kaiser, Frank J

AU - Klein, Christine

AU - Brüggemann, Norbert

PY - 2012

Y1 - 2012

N2 - Mutations in THAP1 have been associated with dystonia 6 (DYT6). THAP1 encodes a transcription factor that represses the expression of DYT1. To further evaluate the mutational spectrum of THAP1 and its associated phenotype, we sequenced THAP1 in 567 patients with focal (n = 461), segmental (n = 68), or generalized dystonia (n = 38). We identified 10 novel variants, including six missense substitutions within the DNA-binding Thanatos-associated protein domain (Arg13His, Lys16Glu, His23Pro, Lys24Glu, Pro26Leu, Ile80Val), a 1bp-deletion downstream of the nuclear localization signal (Asp191Thrfs*9), and three alterations in the untranslated regions. The effect of the missense variants was assessed using prediction tools and luciferase reporter gene assays. This indicated the Ile80Val substitution as a benign variant. The subcellular localization of Asp191Thrfs*9 suggests a disturbed nuclear import for this mutation. Thus, we consider six of the 10 novel variants as pathogenic mutations accounting for a mutation frequency of 1.1%. Mutation carriers presented mainly with early onset dystonia (

AB - Mutations in THAP1 have been associated with dystonia 6 (DYT6). THAP1 encodes a transcription factor that represses the expression of DYT1. To further evaluate the mutational spectrum of THAP1 and its associated phenotype, we sequenced THAP1 in 567 patients with focal (n = 461), segmental (n = 68), or generalized dystonia (n = 38). We identified 10 novel variants, including six missense substitutions within the DNA-binding Thanatos-associated protein domain (Arg13His, Lys16Glu, His23Pro, Lys24Glu, Pro26Leu, Ile80Val), a 1bp-deletion downstream of the nuclear localization signal (Asp191Thrfs*9), and three alterations in the untranslated regions. The effect of the missense variants was assessed using prediction tools and luciferase reporter gene assays. This indicated the Ile80Val substitution as a benign variant. The subcellular localization of Asp191Thrfs*9 suggests a disturbed nuclear import for this mutation. Thus, we consider six of the 10 novel variants as pathogenic mutations accounting for a mutation frequency of 1.1%. Mutation carriers presented mainly with early onset dystonia (

KW - Adult

KW - Humans

KW - Male

KW - Aged

KW - Female

KW - Middle Aged

KW - Adolescent

KW - Young Adult

KW - Polymorphism, Genetic

KW - Child

KW - Child, Preschool

KW - Genotype

KW - Protein Transport

KW - Age of Onset

KW - Gene Frequency

KW - Genetic Association Studies

KW - Mutation

KW - Apoptosis Regulatory Proteins/genetics/metabolism

KW - DNA-Binding Proteins/genetics/metabolism

KW - Dystonia/epidemiology/genetics/metabolism

KW - Nuclear Proteins/genetics/metabolism

KW - Adult

KW - Humans

KW - Male

KW - Aged

KW - Female

KW - Middle Aged

KW - Adolescent

KW - Young Adult

KW - Polymorphism, Genetic

KW - Child

KW - Child, Preschool

KW - Genotype

KW - Protein Transport

KW - Age of Onset

KW - Gene Frequency

KW - Genetic Association Studies

KW - Mutation

KW - Apoptosis Regulatory Proteins/genetics/metabolism

KW - DNA-Binding Proteins/genetics/metabolism

KW - Dystonia/epidemiology/genetics/metabolism

KW - Nuclear Proteins/genetics/metabolism

M3 - SCORING: Journal article

VL - 20

SP - 171

EP - 175

JO - EUR J HUM GENET

JF - EUR J HUM GENET

SN - 1018-4813

IS - 2

M1 - 2

ER -