Gruis N A, Weaver-Feldhaus J, Liu Q, Frye C, Eeles R, Orlow I, Lacombe L, Ponce-Castaneda V, Lianes P, Latres E
Myriad Genetics, Inc., Salt Lake City, UT 84108, USA.
Am J Pathol. 1995 May;146(5):1199-206.
The 9p21 region of human chromosome 9 is a hot spot for chromosomal aberrations in both cultured cell lines and primary tumors. This region contains a gene, P16 (also called MTS1, CDKN2 and p16INK4), that encodes a presumptive negative cell cycle regulator called p16. P16 is deleted or mutated at high frequency in a variety of tumor cell lines including melanoma and bladder carcinoma lines. As such, it is likely to be a tumor suppressor gene. Here we show that P16 is mutated in primary bladder carcinomas (3 of 33) and melanomas (5 of 34). These findings support studies that show P16 mutations are not solely a product of growth in tissue culture but rather are involved in formation of tumors in viva. Some bladder primary tumors and some bladder and melanoma tumor cell lines contain mutations in both P16 and P53 at frequencies that suggest that p53 and p16 function in different pathways, each of which is important in suppressing malignant transformation.
人类9号染色体的9p21区域在培养的细胞系和原发性肿瘤中都是染色体畸变的热点区域。该区域包含一个名为P16（也称为MTS1、CDKN2和p16INK4）的基因，它编码一种名为p16的假定负性细胞周期调节因子。在包括黑色素瘤和膀胱癌细胞系在内的多种肿瘤细胞系中，P16高频缺失或突变。因此，它很可能是一种肿瘤抑制基因。在此我们表明，原发性膀胱癌（33例中有3例）和黑色素瘤（34例中有5例）中存在P16突变。这些发现支持了相关研究，即表明P16突变并非仅仅是组织培养中生长的产物，而是参与了体内肿瘤的形成。一些膀胱原发性肿瘤以及一些膀胱和黑色素瘤肿瘤细胞系中，P16和P53均存在突变，其频率表明p53和p16在不同途径中发挥作用，每条途径在抑制恶性转化中都很重要。
