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Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

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Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. / Chakarova, Christina F; Papaioannou, Myrto G; Khanna, Hemant; Lopez, Irma; Waseem, Naushin; Shah, Amna; Theis, Torsten; Friedman, James; Maubaret, Cecilia; Bujakowska, Kinga; Veraitch, Brotati; El-Aziz, Abd; Mai, M; Prescott, De Quincy; Parapuram, Sunil K; Bickmore, Wendy A; Gal, Andreas; Gal, Andreas; Hamel, Christian P; Marigo, Valeria; Ponting, Chris P; Wissinger, Bernd; Zrenner, Eberhart; Matter, Karl; Swaroop, Anand; Koenekoop, Robert K; Bhattacharya, Shomi S.

in: AM J HUM GENET, Jahrgang 81, Nr. 5, 5, 2007, S. 1098-1103.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Chakarova, CF, Papaioannou, MG, Khanna, H, Lopez, I, Waseem, N, Shah, A, Theis, T, Friedman, J, Maubaret, C, Bujakowska, K, Veraitch, B, El-Aziz, A, Mai, M, Prescott, DQ, Parapuram, SK, Bickmore, WA, Gal, A, Gal, A, Hamel, CP, Marigo, V, Ponting, CP, Wissinger, B, Zrenner, E, Matter, K, Swaroop, A, Koenekoop, RK & Bhattacharya, SS 2007, 'Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.', AM J HUM GENET, Jg. 81, Nr. 5, 5, S. 1098-1103. <http://www.ncbi.nlm.nih.gov/pubmed/17924349?dopt=Citation>

APA

Chakarova, C. F., Papaioannou, M. G., Khanna, H., Lopez, I., Waseem, N., Shah, A., Theis, T., Friedman, J., Maubaret, C., Bujakowska, K., Veraitch, B., El-Aziz, A., Mai, M., Prescott, D. Q., Parapuram, S. K., Bickmore, W. A., Gal, A., Gal, A., Hamel, C. P., ... Bhattacharya, S. S. (2007). Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. AM J HUM GENET, 81(5), 1098-1103. [5]. http://www.ncbi.nlm.nih.gov/pubmed/17924349?dopt=Citation

Vancouver

Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A et al. Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. AM J HUM GENET. 2007;81(5):1098-1103. 5.

Bibtex

@article{102b32832e954b4e9df9845d3fd2becd,
title = "Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.",
abstract = "We report mutations in the gene for topoisomerase I-binding RS protein (TOPORS) in patients with autosomal dominant retinitis pigmentosa (adRP) linked to chromosome 9p21.1 (locus RP31). A positional-cloning approach, together with the use of bioinformatics, identified TOPORS (comprising three exons and encoding a protein of 1,045 aa) as the gene responsible for adRP. Mutations that include an insertion and a deletion have been identified in two adRP-affected families--one French Canadian and one German family, respectively. Interestingly, a distinct phenotype is noted at the earlier stages of the disease, with an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades in the retina. TOPORS is a RING domain-containing E3 ubiquitin ligase and localizes in the nucleus in speckled loci that are associated with promyelocytic leukemia bodies. The ubiquitous nature of TOPORS expression and a lack of mutant protein in patients are highly suggestive of haploinsufficiency, rather than a dominant negative effect, as the molecular mechanism of the disease and make rescue of the clinical phenotype amenable to somatic gene therapy.",
author = "Chakarova, {Christina F} and Papaioannou, {Myrto G} and Hemant Khanna and Irma Lopez and Naushin Waseem and Amna Shah and Torsten Theis and James Friedman and Cecilia Maubaret and Kinga Bujakowska and Brotati Veraitch and Abd El-Aziz and M Mai and Prescott, {De Quincy} and Parapuram, {Sunil K} and Bickmore, {Wendy A} and Andreas Gal and Andreas Gal and Hamel, {Christian P} and Valeria Marigo and Ponting, {Chris P} and Bernd Wissinger and Eberhart Zrenner and Karl Matter and Anand Swaroop and Koenekoop, {Robert K} and Bhattacharya, {Shomi S}",
year = "2007",
language = "Deutsch",
volume = "81",
pages = "1098--1103",
journal = "AM J HUM GENET",
issn = "0002-9297",
publisher = "Cell Press",
number = "5",

}

RIS

TY - JOUR

T1 - Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

AU - Chakarova, Christina F

AU - Papaioannou, Myrto G

AU - Khanna, Hemant

AU - Lopez, Irma

AU - Waseem, Naushin

AU - Shah, Amna

AU - Theis, Torsten

AU - Friedman, James

AU - Maubaret, Cecilia

AU - Bujakowska, Kinga

AU - Veraitch, Brotati

AU - El-Aziz, Abd

AU - Mai, M

AU - Prescott, De Quincy

AU - Parapuram, Sunil K

AU - Bickmore, Wendy A

AU - Gal, Andreas

AU - Gal, Andreas

AU - Hamel, Christian P

AU - Marigo, Valeria

AU - Ponting, Chris P

AU - Wissinger, Bernd

AU - Zrenner, Eberhart

AU - Matter, Karl

AU - Swaroop, Anand

AU - Koenekoop, Robert K

AU - Bhattacharya, Shomi S

PY - 2007

Y1 - 2007

N2 - We report mutations in the gene for topoisomerase I-binding RS protein (TOPORS) in patients with autosomal dominant retinitis pigmentosa (adRP) linked to chromosome 9p21.1 (locus RP31). A positional-cloning approach, together with the use of bioinformatics, identified TOPORS (comprising three exons and encoding a protein of 1,045 aa) as the gene responsible for adRP. Mutations that include an insertion and a deletion have been identified in two adRP-affected families--one French Canadian and one German family, respectively. Interestingly, a distinct phenotype is noted at the earlier stages of the disease, with an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades in the retina. TOPORS is a RING domain-containing E3 ubiquitin ligase and localizes in the nucleus in speckled loci that are associated with promyelocytic leukemia bodies. The ubiquitous nature of TOPORS expression and a lack of mutant protein in patients are highly suggestive of haploinsufficiency, rather than a dominant negative effect, as the molecular mechanism of the disease and make rescue of the clinical phenotype amenable to somatic gene therapy.

AB - We report mutations in the gene for topoisomerase I-binding RS protein (TOPORS) in patients with autosomal dominant retinitis pigmentosa (adRP) linked to chromosome 9p21.1 (locus RP31). A positional-cloning approach, together with the use of bioinformatics, identified TOPORS (comprising three exons and encoding a protein of 1,045 aa) as the gene responsible for adRP. Mutations that include an insertion and a deletion have been identified in two adRP-affected families--one French Canadian and one German family, respectively. Interestingly, a distinct phenotype is noted at the earlier stages of the disease, with an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades in the retina. TOPORS is a RING domain-containing E3 ubiquitin ligase and localizes in the nucleus in speckled loci that are associated with promyelocytic leukemia bodies. The ubiquitous nature of TOPORS expression and a lack of mutant protein in patients are highly suggestive of haploinsufficiency, rather than a dominant negative effect, as the molecular mechanism of the disease and make rescue of the clinical phenotype amenable to somatic gene therapy.

M3 - SCORING: Zeitschriftenaufsatz

VL - 81

SP - 1098

EP - 1103

JO - AM J HUM GENET

JF - AM J HUM GENET

SN - 0002-9297

IS - 5

M1 - 5

ER -