Smith-Sørensen B, Hovig E
Department of Genetics, Norwegian Radium Hospital, Oslo Norway.
Hum Mutat. 1996;7(4):294-303. doi: 10.1002/(SICI)1098-1004(1996)7:4<294::AID-HUMU2>3.0.CO;2-9.
The cell cycle is composed of a series of steps that can be negatively or positively regulated by various factors. A group of low-molecular-weight proteins have recently been identified that specifically inhibit the function of cyclin-dependent kinases in mammalian cells. Inactivation of the CDKN2A gene (also known as p16INK4A and MTS1) attracted considerable interest after it was mapped to 9p21, a locus for familial melanoma. In an effort to standardize the information regarding human CDKN2A mutations detected in cancers, a database with information of 146 point mutations has been created. Cancer type, origin of cells, specific mutation, amino acid change, literature citation, and other data are provided for each mutation entry. Studies of biochemical and biological functions of both wild-type and mutant proteins are central to our understanding of the role of p16INK4a mutations in tumorigenesis, a summary of these studies is also included in the present update.
细胞周期由一系列步骤组成，这些步骤可受到各种因素的负调控或正调控。最近已鉴定出一组低分子量蛋白质，它们可特异性抑制哺乳动物细胞中细胞周期蛋白依赖性激酶的功能。CDKN2A基因（也称为p16INK4A和MTS1）定位于9p21（家族性黑色素瘤的一个位点）后，其失活引起了广泛关注。为了规范在癌症中检测到的人类CDKN2A突变的信息，已创建了一个包含146个点突变信息的数据库。每个突变条目都提供了癌症类型、细胞来源、特定突变、氨基酸变化、文献引用及其他数据。对野生型和突变型蛋白质的生化及生物学功能的研究对于我们理解p16INK4a突变在肿瘤发生中的作用至关重要，本更新内容中也包含了这些研究的总结。
