Division of Cancer Biology, Cell Communication Team, The Institute of Cancer Research, London, UK.
Amino Acids. 2012 Sep;43(3):1061-74. doi: 10.1007/s00726-012-1293-z. Epub 2012 Jul 22.
Sequence analysis of the human genome and the association of genetic aberrations with diseases have provided a rough framework whereby the impact of individual genotypes can be assessed. To fully understand the effect of individual and co-occurring genetic aberrations, as well as their individual and collected contribution to the development of diseases, it is critical to analyse the matching proteome and to determine how the organisation, expression level and function of protein networks are affected. Sensitive mass spectrometric platforms in combination with innovative workflows allow qualitative and quantitative analyses of the cellular as well as the extracellular proteome. Importantly, in addition to specifically identifying the content of the proteome, several aspects of the proteomic organisation can be analysed including protein complexes, protein modifications, enzymatic activities and subcellular/organelle localisation. Together, these measurements will provide novel insight into the biological effect of disease-causing mutations ultimately coupling genotype and phenotype.
对人类基因组进行序列分析以及研究遗传异常与疾病之间的关系，为评估个体基因型的影响提供了一个大致框架。为了充分了解个体和共同发生的遗传异常的影响，以及它们对疾病发展的个体和综合贡献，分析匹配的蛋白质组并确定蛋白质网络的组织、表达水平和功能如何受到影响至关重要。敏感的质谱平台与创新的工作流程相结合，允许对细胞内和细胞外蛋白质组进行定性和定量分析。重要的是，除了专门鉴定蛋白质组的含量外，还可以分析蛋白质组组织的几个方面，包括蛋白质复合物、蛋白质修饰、酶活性和亚细胞/细胞器定位。这些测量结果将为疾病相关突变的生物学效应提供新的见解，最终将基因型和表型联系起来。
