Localization of the synovial sarcoma t(X;18)(p11.2;q11.2) breakpoint by fluorescence in situ hybridization

Knight, Jennifer C., Reeves, Brian R., Kearney, Lyndal, Monaco, Anthony P., Lehrach, Hans and Cooper, Colin S. ORCID: https://orcid.org/0000-0003-2013-8042 (1992) Localization of the synovial sarcoma t(X;18)(p11.2;q11.2) breakpoint by fluorescence in situ hybridization. Human Molecular Genetics, 1 (8). pp. 633-637. ISSN 0964-6906

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A high proportion of synovial sarcomas contain a chromosome translocation t(X;18)(p11.2;q11.2). We have previously used somatic cell hybrids derived from an established cell line, SS255, to map the X chromosome breakpoint to the interval flanked by the markers DXS14 and DXS146. In this study we have examined these hybrids with thirteen additional markers located at Xp11.3-Xcen, by Southern hybridization. Based on these results we have delimited the breakpoint as follows Xpter-DXS228-(UBE1-OATL1-TIMP-DXS226)-(DXS255-TFE3-ELK1-DXS146)-OATL2-X; 18-(DXS14-DXS422-DXS423-DXS674-DXS679)-Xcen. Confirmation of the breakpoint location has been obtained by analysis of two synovial sarcoma cell lines, SS255 and HA2243, using fluorescence in situ hybridization. A 350kb YAC probe spanning the DXS423 locus hybridized only to the derivative X chromosome, showing that it maps proximal to the breakpoint. Two YAC probes of 300kb and 450kb, containing the OATL2 locus, hybridized to both derivative chromosomes, indicating that these YACs span the translocation breakpoint. Similar results were obtained with both cell lines. The identification of YACs that span the t(X;18) breakpoint now facilitates a strategy for cloning candidate genes from this precisely defined region.

Item Type: Article
Additional Information: Funding Information: We would like to thank all those who generously donated DNA probes for this study: K.Davies for SB1.8, H. Ropers for p2bC6 and plaA6, E.Zacksenhaus for pH2.8, A.Docherty for TIMP-1, T.Kadesch for pTFE3-l .9, I.Craig for M27 0, V.Ramesh for HuOATl, E.Bakker for cpX210 and Y.Boyd for pH3-68 and pH3-145. We thank A.Chan for the M426 library, P.Goodfellow for cell line C12D and S.Aaronson for cell line HA2243. Finally we thank Jeremy Clark for technical assistance and Jessica Buxton, Helena Kempski and Kalyani Jani for their help with fluorescence in situ hybridization. This work is supported by the Cancer Research Campaign.
Uncontrolled Keywords: molecular biology,genetics,genetics(clinical) ,/dk/atira/pure/subjectarea/asjc/1300/1312
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
UEA Research Groups: Faculty of Medicine and Health Sciences > Research Groups > Cancer Studies
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Depositing User: LivePure Connector
Date Deposited: 18 Jul 2022 17:30
Last Modified: 23 Oct 2022 04:02
URI: https://ueaeprints.uea.ac.uk/id/eprint/86524
DOI: 10.1093/hmg/1.8.633

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