de Leeuw B, Berger W, Sinke R J, Suijkerbuijk R F, Gilgenkrantz S, Geraghty M T, Valle D, Monaco A P, Lehrach H, Ropers H H
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
Genes Chromosomes Cancer. 1993 Mar;6(3):182-9. doi: 10.1002/gcc.2870060309.
A somatic cell hybrid containing the synovial sarcoma-associated t(X;18)(p11.2;q11.2) derivative (der(X)) chromosome was used to characterize the translocation breakpoint region on the X chromosome. By using Southern hybridization of DNA from this der(X) hybrid in conjunction with Xp-region specific radiation reduced cell hybrids and probes, it was found that this breakpoint maps within the ornithine aminotransferase (OAT) L1 cluster. A yeast artificial chromosome (YAC) clone (OAT YAC2) which hybridizes to a human OAT cDNA probe and is known to contain part of the OATL1 cluster was selected and used to confirm these results both by fluorescence in situ hybridization on synovial sarcoma patient material and by hybridization of its end-clones to the der(X) containing hybrid cells. It was found that indeed the human Xp sequences contained within this YAC are split as a consequence of the (X;18) translocation. Therefore, we conclude that OAT YAC2 spans the synovial sarcoma-specific translocation breakpoint and, as such, may serve as an ideal starting point from which the gene(s) involved in the development of this soft tissue tumor can be isolated.
一个含有滑膜肉瘤相关的t(X;18)(p11.2;q11.2)衍生(X)染色体的体细胞杂种被用于鉴定X染色体上的易位断点区域。通过将来自该(X)杂种的DNA进行Southern杂交，并结合Xp区域特异性辐射减少细胞杂种和探针，发现该断点位于鸟氨酸氨基转移酶(OAT)L1簇内。选择了一个与人类OAT cDNA探针杂交且已知包含部分OATL1簇的酵母人工染色体(YAC)克隆(OAT YAC2)，并通过对滑膜肉瘤患者材料进行荧光原位杂交以及将其末端克隆与含有(X)的杂种细胞杂交来证实这些结果。发现该YAC中包含的人类Xp序列确实由于(X;18)易位而被分开。因此，我们得出结论，OAT YAC2跨越了滑膜肉瘤特异性易位断点，因此可以作为分离参与这种软组织肿瘤发生的基因的理想起点。
