Department of Precision Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Department of Sciences and Technologies, University of Sannio, 82100 Benevento, Italy.
Int J Mol Sci. 2018 Apr 2;19(4):1055. doi: 10.3390/ijms19041055.
The gene encodes the p57 protein which has been identified as the third member of the CIP/Kip family, also including p27 and p21. In analogy with these proteins, p57 is able to bind tightly and inhibit cyclin/cyclin-dependent kinase complexes and, in turn, modulate cell division cycle progression. For a long time, the main function of p57 has been associated only to correct embryogenesis, since -ablated mice are not vital. Accordingly, it has been demonstrated that alterations cause three human hereditary syndromes, characterized by altered growth rate. Subsequently, the p57 role in several cell phenotypes has been clearly assessed as well as its down-regulation in human cancers. lies in a genetic locus, 11p15.5, characterized by a remarkable regional imprinting that results in the transcription of only the maternal allele. The control of transcription is also linked to additional mechanisms, including DNA methylation and specific histone methylation/acetylation. Finally, long non-coding RNAs and miRNAs appear to play important roles in controlling p57 levels. This review mostly represents an appraisal of the available data regarding the control of gene expression. In addition, the structure and function of p57 protein are briefly described and correlated to human physiology and diseases.
该基因编码的 p57 蛋白被鉴定为 CIP/Kip 家族的第三个成员，还包括 p27 和 p21。与这些蛋白类似，p57 能够紧密结合并抑制细胞周期蛋白/细胞周期依赖性激酶复合物，并进而调节细胞分裂周期的进展。长期以来，p57 的主要功能仅与正确的胚胎发生有关，因为 - 缺失的小鼠并非致命的。因此，已经证明 改变会导致三种人类遗传性综合征，其特征是生长速度改变。随后，p57 在几种细胞表型中的作用也得到了明确评估，并且其在人类癌症中的下调也得到了证实。 位于遗传基因座 11p15.5 上，该区域具有显著的局部印记，导致仅转录母本等位基因。 转录的控制也与其他机制相关联，包括 DNA 甲基化和特定的组蛋白甲基化/乙酰化。最后，长非编码 RNA 和 miRNA 似乎在控制 p57 水平方面发挥着重要作用。这篇综述主要是对有关 基因表达控制的现有数据进行评估。此外，还简要描述了 p57 蛋白的结构和功能，并与人类生理学和疾病相关联。
