Department of Biochemistry, McGill University, Montréal, Québec, Canada.
Biomark Med. 2010 Aug;4(4):611-29. doi: 10.2217/bmm.10.68.
Human health is related to information stored in our genetic code, which is highly variable even amongst healthy individuals. Gene expression is orchestrated by numerous control elements that may be located anywhere in the genome, and can regulate distal genes by physically interacting with them. These DNA contacts can be mapped with the chromosome conformation capture and related technologies. Several studies now demonstrate that gene expression patterns are associated with specific chromatin structures, and may therefore correlate with chromatin conformation signatures. Here, we present an overview of genome organization and its relationship with gene expression. We also summarize how chromatin conformation signatures can be identified and discuss why they might represent ideal biomarkers of human disease in such genetically diverse populations.
人类健康与存储在我们基因密码中的信息有关，即使在健康个体中，这些信息也存在高度的可变性。基因表达是由许多控制元件协调的，这些控制元件可以位于基因组的任何地方，并通过与它们物理相互作用来调节远端基因。这些 DNA 接触可以通过染色体构象捕获和相关技术进行映射。现在有几项研究表明，基因表达模式与特定的染色质结构相关，因此可能与染色质构象特征相关。在这里，我们概述了基因组组织及其与基因表达的关系。我们还总结了如何识别染色质构象特征，并讨论了为什么它们可能代表这种遗传多样化人群中人类疾病的理想生物标志物。
