Dahia P L, FitzGerald M G, Zhang X, Marsh D J, Zheng Z, Pietsch T, von Deimling A, Haluska F G, Haber D A, Eng C
Department of Adult Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts 02115, USA.
Oncogene. 1998 May 7;16(18):2403-6. doi: 10.1038/sj.onc.1201762.
PTEN/MMAC1/TEP1, encoding a dual-specificity phosphatase, is a tumor suppressor gene which has recently been cloned and mapped to chromosome 10q23.3. We have shown that germline mutations of PTEN are present in individuals with two hamartoma syndromes: Cowden Syndrome, associated with a predisposition to breast and thyroid cancers, and Bannayan-Zonana syndrome. Somatic mutations of PTEN have been reported in a variety of human cancer cell lines, suggesting a potential role for this gene in the pathogenesis of human malignancies. We report the identification of a highly conserved PTEN processed pseudogene, psiPTEN, which shares over 98% homology with the coding region of functional PTEN, and its localisation to chromosome 9p21. The high sequence homology of psiPTEN with the PTEN transcript may potentially lead to misinterpretation when performing mutation analyses based on cDNA templates. Caution should be exerted when using such screening approaches.
PTEN/MMAC1/TEP1编码一种双特异性磷酸酶，是一种肿瘤抑制基因，最近已被克隆并定位于染色体10q23.3。我们已经表明，PTEN的种系突变存在于患有两种错构瘤综合征的个体中：考登综合征，与乳腺癌和甲状腺癌的易感性相关；以及班纳扬-佐纳纳综合征。PTEN的体细胞突变已在多种人类癌细胞系中报道，表明该基因在人类恶性肿瘤发病机制中具有潜在作用。我们报告了一个高度保守的PTEN加工假基因psiPTEN的鉴定，它与功能性PTEN的编码区具有超过98%的同源性，并且其定位于染色体9p21。当基于cDNA模板进行突变分析时，psiPTEN与PTEN转录本的高序列同源性可能会导致错误解读。使用此类筛选方法时应谨慎。
