Kelsey Gavin
Laboratory of Developmental Genetics and Imprinting, The Babraham Institute, Cambridge , UK.
Endocr Dev. 2007;12:99-112. doi: 10.1159/000109637.
Genomic imprinting results in the deliberate silencing of alleles, dictated by their parental origin, but reversible on passage through the germ line. In this chapter, we shall consider the functional properties of imprinted genes, why these genes might have been singled out for the risky strategy of mono-allelic expression, and how imprinting is regulated. We shall look at how imprinted genes affect processes throughout our lifetimes, from the way we grow in the womb to the control of metabolism as adults. In contrast to the depth of our knowledge of the contributions of imprinted genes to growth of the fetus, our understanding of their roles in adult physiology is still rather poor. We shall look at those imprinted genes that have been implicated in diabetes and those which are known to help determine Beta-cell mass. It is likely that the effects of imprinted genes on these processes are more pervasive than currently recognised. The intention of this chapter is therefore to equip the readers with the general principles governing imprinting, so that they are able to comprehend this intriguing and important form of gene regulation when they encounter it next.
基因组印记导致等位基因依据其亲本来源而被特意沉默,但在通过生殖系时可逆转。在本章中,我们将探讨印记基因的功能特性、为何这些基因可能被挑选出来采用单等位基因表达这种有风险的策略,以及印记是如何被调控的。我们将研究印记基因如何在我们的一生中影响各种生理过程,从我们在子宫内的生长方式到成年后的新陈代谢控制。与我们对印记基因对胎儿生长贡献的深入了解形成对比的是,我们对它们在成体生理学中的作用的理解仍然相当匮乏。我们将审视那些与糖尿病有关的印记基因以及那些已知有助于确定β细胞数量的印记基因。印记基因对这些过程的影响可能比目前所认识到的更为普遍。因此,本章的目的是让读者掌握印记的一般原理,以便他们下次遇到这种有趣且重要的基因调控形式时能够理解它。