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An endometrial stro...
An endometrial stromal sarcoma cell line with the JAZF1/PHF1 chimera
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- Panagopoulos, Ioannis (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
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- Mertens, Fredrik (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
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Griffin, Constance A (author)
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(creator_code:org_t)
- Elsevier BV, 2008
- 2008
- English 4 s.
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In: Cancer Genetics and Cytogenetics. - : Elsevier BV. - 0165-4608. ; 185:2, s. 74-77
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Abstract
Subject headings
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- Endometrial stromal sarcomas (ESS) are rare malignancies, accounting for less than 10% of uterine sarcomas. Apart from the chromosomal rearrangement t(7;17)(p15;q21), which leads to the JAZF1/SUZ12 chimera, cytogenetic studies have shown that the chromosome band 6p21 is often rearranged in ESS. The translocation partners involved in the 6p21 rearrangements differ among the tumors, but chromosome 7 is involved in most aberrations. A JAZF1/PHF1 fusion gene was recently found in two tumors showing an exchange between 6p and 7p rearrangement. In the present study, we show that a low-grade ESS cell line carrying a der(7)t(6;7)(p21;p22) also harbors the a JAZF1/PHF1 fusion. In the fusion transcript, exon 3 of JAZF1 was fused with exon 2 of PHF1. At the junction, there was an insertion of 26 nucleotides, originating from intron 3 of JAZF1, thus maintaining an open reading frame of the chimeric transcript. The predicted 684-amino acid JAZF1/PHF1 chimeric protein retained one zinc finger domain from JAZF1 and the two zinc finger domains from PHF1, and its oncogenic mechanism should be similar to that of the JAZF1/SUZ12 protein. The present cell line constitutes an excellent model for further studies on the impact of the JAZF1/PHF1 fusion.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- Base Sequence
- DNA Primers
- DNA-Binding Proteins
- Endometrial Neoplasms
- Female
- Humans
- Karyotyping
- Neoplasm Proteins
- Recombinant Fusion Proteins
- Reverse Transcriptase Polymerase Chain Reaction
- Sarcoma
- Stromal Cells
- Transcription Factors
- Journal Article
- Research Support, Non-U.S. Gov't
Publication and Content Type
- art (subject category)
- ref (subject category)
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