Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Mamm Genome. 2012 Oct;23(9-10):490-8. doi: 10.1007/s00335-012-9402-6. Epub 2012 Jul 7.
Since the turn of the century the complete genome sequence of just one mouse strain, C57BL/6J, has been available. Knowing the sequence of this strain has enabled large-scale forward genetic screens to be performed, the creation of an almost complete set of embryonic stem (ES) cell lines with targeted alleles for protein-coding genes, and the generation of a rich catalog of mouse genomic variation. However, many experiments that use other common laboratory mouse strains have been hindered by a lack of whole-genome sequence data for these strains. The last 5 years has witnessed a revolution in DNA sequencing technologies. Recently, these technologies have been used to expand the repertoire of fully sequenced mouse genomes. In this article we review the main findings of these studies and discuss how the sequence of mouse genomes is helping pave the way from sequence to phenotype. Finally, we discuss the prospects for using de novo assembly techniques to obtain high-quality assembled genome sequences of these laboratory mouse strains, and what advances in sequencing technologies may be required to achieve this goal.
自本世纪初以来,仅有一种小鼠品系,即 C57BL/6J,其全基因组序列已经可用。了解该品系的序列使得能够进行大规模的正向遗传筛选、几乎完整的一组靶向蛋白质编码基因的胚胎干细胞 (ES) 系的创建,以及丰富的小鼠基因组变异目录的生成。然而,许多使用其他常见实验室小鼠品系的实验因缺乏这些品系的全基因组序列数据而受到阻碍。在过去的 5 年中,DNA 测序技术发生了革命性的变化。最近,这些技术已被用于扩展完全测序的小鼠基因组目录。在本文中,我们回顾了这些研究的主要发现,并讨论了小鼠基因组序列如何帮助从序列到表型铺平道路。最后,我们讨论了使用从头组装技术获得这些实验室小鼠品系的高质量组装基因组序列的前景,以及实现这一目标可能需要哪些测序技术的进步。