包括来自美国国立卫生研究院在内的一组研究人员发现了一种新的探索人类基因组的方法。新方法涉及观察基因组DNA三维形状，不仅仅是阅读DNA碱基对的顺序。
发表在科学杂志网络版在的一篇论文显示上述结果。由国立人类基因组研究所（NHGRI）所埃利奥特格莉丝博士和波士顿大学托马斯图利乌斯博士领导的研究小组发现了一个新的方法检测基因组区域功能。相结化学和计算机分析，研究人员能够观查 DNA结构、区域与生物学功能的相关性。
该方法包括确定构成人类基因组DNA所有的沟槽、突起和翻转，然后与出现在其他动物物种的基因组这些结构进行比较。在许多物种中被保存下来的的相同结构可能在生命体中发挥重要的作用，而那些通过进化改变了的基因组可能发挥核心作用少或根本没有作用。
“这是一个令人兴奋的新方法，将加速我们确定基因组功能，这是我们进行基因组研究所面临的主要挑战，”NHGRI主任埃里克博士表示，“DNA测序列方法的持续创新，加速我们利用基因组信息改善人类健康的速度。”（生物谷Bioon.com）
生物谷推荐原始出处：
Science March 12, 2009 DOI: 10.1126/science.1169050
Local DNA Topography Correlates with Functional Noncoding Regions of the Human Genome
Stephen C. J. Parker 1, Loren Hansen 2, Hatice Ozel Abaan 3, Thomas D. Tullius 4*, Elliott H. Margulies 3*
1 Bioinformatics Program, Boston University, Boston, MA 02215, USA.
2 Bioinformatics Program, Boston University, Boston, MA 02215, USA.; National Center for Biotechnology Information, National Institutes of Health, Bethesda, MD, USA.
3 Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
4 Bioinformatics Program, Boston University, Boston, MA 02215, USA.; Department of Chemistry, Boston University, Boston, MA 02215, USA.
The three-dimensional molecular structure of DNA, specifically the shape of the backbone and grooves of genomic DNA, can be dramatically affected by nucleotide changes, which can cause differences in protein binding affinity and phenotype. We developed an algorithm to measure constraint on the basis of similarity of DNA topography among multiple species using hydroxyl radical cleavage patterns to interrogate the solvent accessible surface area of DNA. This algorithm found that 12% of bases in the human genome are evolutionarily constrained—double the number detected by nucleotide sequence-based algorithms. Topography-informed constrained regions correlated with functional noncoding elements, including enhancers, better than regions identified solely on the basis of nucleotide sequence. These results support that the molecular shape of DNA is under selection and can identify evolutionary history.
