de Klein A, van Kessel A G, Grosveld G, Bartram C R, Hagemeijer A, Bootsma D, Spurr N K, Heisterkamp N, Groffen J, Stephenson J R
Nature. 1982 Dec 23;300(5894):765-7. doi: 10.1038/300765a0.
The transforming genes of oncogenic retroviruses are homologous to a group of evolutionary conserved cellular onc genes. The human cellular homologue (c-abl) of the transforming sequence of Abelson murine leukaemia virus (A-MuL V) was recently shown to be located on chromosome 9. The long arm of this chromosome is involved in a specific translocation with chromosome 22, the Philadelphia translocation (Ph1), t(9; 22) (q34, q11), which occurs in patients with chronic myelocytic leukaemia (CML)3-5. Here we investigate whether the c-abl gene is included in this translocation. Using c-abl and v-abl hybridization probes on blots of somatic cell hybrids, positive hybridization is found when the 22q- (the Philadelphia chromosome), and not the 9q+ derivative of the translocation, is present in the cell hybrids. From this we conclude that in CML, c-abl sequences are translocated from chromosome 9 to chromosome 22q-. This finding is a direct demonstration of a reciprocal exchange between the two chromosomes and suggests a role for the c-abl gene in the generation of CML.
致癌逆转录病毒的转化基因与一组进化上保守的细胞癌基因同源。最近发现，阿贝尔森鼠白血病病毒（A-MuLV）转化序列的人类细胞同源物（c-abl）位于9号染色体上。该染色体的长臂与22号染色体发生特异性易位，即费城易位（Ph1），t(9; 22) (q34, q11)，这种易位发生在慢性粒细胞白血病（CML）患者中3-5。在此，我们研究c-abl基因是否包含在这种易位中。在体细胞杂种印迹上使用c-abl和v-abl杂交探针，当细胞杂种中存在22q-（费城染色体）而不是易位的9q+衍生物时，发现阳性杂交。由此我们得出结论，在CML中，c-abl序列从9号染色体易位到22号染色体q-。这一发现直接证明了两条染色体之间的相互交换，并提示c-abl基因在CML的发生中起作用。
