Conde Lucía, Montaner David, Burguet-Castell Jordi, Tárraga Joaquín, Al-Shahrour Fátima, Dopazo Joaquín
Department of Bioinformatics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, E-46013, Spain.
Bioinformation. 2007 Apr 10;1(10):432-5. doi: 10.6026/97320630001432.
Contrarily to the traditional view in which only one or a few key genes were supposed to be the causative factors of diseases, we discuss the importance of considering groups of functionally related genes in the study of pathologies characterised by chromosomal copy number alterations. Recent observations have reported the existence of regions in higher eukaryotic chromosomes (including humans) containing genes of related function that show a high degree of coregulation. Copy number alterations will consequently affect to clusters of functionally related genes, which will be the final causative agents of the diseased phenotype, in many cases. Therefore, we propose that the functional profiling of the regions affected by copy number alterations must be an important aspect to take into account in the understanding of this type of pathologies. To illustrate this, we present an integrated study of DNA copy number variations, gene expression along with the functional profiling of chromosomal regions in a case of multiple myeloma.
与传统观点认为只有一个或几个关键基因是疾病的致病因素相反，我们讨论了在研究以染色体拷贝数改变为特征的病理过程中考虑功能相关基因群的重要性。最近的观察报告称，在高等真核生物染色体（包括人类）中存在一些区域，这些区域包含功能相关的基因，并且显示出高度的共调控。因此，拷贝数改变将影响功能相关基因的簇，在许多情况下，这些基因簇将是患病表型的最终致病因素。因此，我们提出，受拷贝数改变影响的区域的功能分析必须是理解这类病理过程时要考虑的一个重要方面。为了说明这一点，我们展示了一项对多发性骨髓瘤病例中的DNA拷贝数变异、基因表达以及染色体区域功能分析的综合研究。
