Ekstrand B C, Mansfield T A, Bigner S H, Fearon E R
Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA.
Oncogene. 1995 Dec 7;11(11):2393-402.
The DCC (deleted in colorectal cancer) candidate tumor suppressor gene spans greater than 1350 kilobases at chromosomes 18q21.1 and encodes a transmembrane protein of unknown function. Although DCC is expressed in a number of adult tissues, its expression is highest in the brain and we have, therefore, undertaken studies to determine if DCC inactivation might contribute to tumors arising there. Decreased or absent DCC protein expression was noted in more than 50% of the thirty brain tumors studied. Although specific mutations in the DCC gene were not identified, a variety of mechanisms appeared to contribute to the altered DCC expression, including allelic loss, aberrant splicing of transcripts and allele-specific loss of transcripts. In total, the data suggest that DCC inactivation may be important in brain tumor pathogenesis.
结直肠癌缺失基因（DCC）候选抑癌基因位于18号染色体q21.1区域，跨度超过1350千碱基，编码一种功能未知的跨膜蛋白。尽管DCC在多种成人组织中表达，但其在脑中的表达最高，因此，我们开展了研究以确定DCC失活是否可能导致脑部肿瘤的发生。在所研究的30个脑肿瘤中，超过50%的肿瘤出现DCC蛋白表达降低或缺失。虽然未发现DCC基因的特异性突变，但多种机制似乎导致了DCC表达的改变，包括等位基因缺失、转录本异常剪接以及转录本的等位基因特异性缺失。总体而言，数据表明DCC失活可能在脑肿瘤发病机制中起重要作用。
