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  Breakpoint characterization of the der(19)t(11;19)(q13;p13) in the ovarian cancer cell line SKOV-3

Onkes, W., Fredrik, R., Micci, F., Schonbeck, B. J., Martin-Subero, J. I., Ullmann, R., et al. (2013). Breakpoint characterization of the der(19)t(11;19)(q13;p13) in the ovarian cancer cell line SKOV-3. Genes, Chromosomes and Cancer, 52(5), 512-522. doi:10.1002/gcc.22048.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0018-EBF6-8 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0018-EBF8-4
Genre: Journal Article

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© 2013 Wiley Periodicals, Inc.
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 Creators:
Onkes, W., Author
Fredrik, R., Author
Micci, F., Author
Schonbeck, B. J., Author
Martin-Subero, J. I., Author
Ullmann, R.1, Author              
Hilpert, F., Author
Brautigam, K., Author
Janssen, O., Author
Maass, N., Author
Siebert, R., Author
Heim, S., Author
Arnold, N., Author
Weimer, J., Author
Affiliations:
1Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              

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Free keywords: Actinin/chemistry/genetics/metabolism Amino Acid Sequence Base Sequence Cell Line, Tumor *Chromosome Breakpoints Chromosome Painting Chromosomes, Human, Pair 11/genetics Chromosomes, Human, Pair 19/*genetics DNA Mutational Analysis Female Humans Microtubule-Associated Proteins/chemistry/genetics/metabolism Molecular Sequence Data Oncogene Proteins, Fusion/genetics Ovarian Neoplasms/*genetics Translocation, Genetic
 Abstract: About 20% of ovarian carcinomas show alterations of 19p13 and/or 19q13 in the form of added extra material whose origin often is from chromosome 11. Based on earlier spectral karyotype analysis of the ovarian cancer cell line SKOV-3, which shows an unbalanced translocation der(19)t(11;19), the aim of this study was to determine the precise breakpoints of that derivative chromosome. After rough delimitation of the breakpoints of microdissected derivative chromosomes by array analysis, we designed a matrix of primers spanning 11q13.2 and 19p13.2 detecting multiple amplicons on genomic and cDNA. Sequencing the amplicons, accurate localization of both breakpoints on both chromosomes was possible and we found that exon 14 of HOOK2 from chromosome 19 and exon 2 of ACTN3 from chromosome 11 were fused in the derivative chromosome. The breakpoint in the HOOK2 gene was in an intrinsic triplet of nucleic acids leading to a shift in the ACTN3 reading frame in the derivative chromosome. This frameshift alteration should give rise to an early stop codon causing a loss of function of ACTN3. Signals in two-dimensional Western blotting exactly match to calculated molecular mass and the isoelectric point of the fusion protein.

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Language(s): eng - English
 Dates: 2013-01-302013-05
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1002/gcc.22048
ISSN: 1098-2264 (Electronic)1045-2257 (Print)
URI: http://www.ncbi.nlm.nih.gov/pubmed/23362175
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Title: Genes, Chromosomes and Cancer
Source Genre: Journal
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Publ. Info: New York, N.Y. : Wiley-Liss, Inc.
Pages: - Volume / Issue: 52 (5) Sequence Number: - Start / End Page: 512 - 522 Identifier: ISSN: 1045-2257
CoNE: /journals/resource/954925590417