研究人员发明一种新方法，有助于确定变异在多发性硬化症中所发挥作用的程度，新成果发明在5月在线出版的《自然—结构与分子生物学》期刊上。
通过人类基因组的研究，科学家们能够确定变异与特定疾病的关系，但他们至今仍难以将许多变异与某个特定的基因联系起来，从而导致了遗传学研究与疾病治疗的分离，但是，如果不能确定靶向基因，遗传性疾病是难以治疗的。
Fernando Casares, Jose Luis Gomez-Skarmeta 和同事合作，研究了一种蛋白质CTCF与DNA的进化保存结合位点，这在基因间创建出界线，以便活跃的基因能够被单独调控，在这个基因区域里，一种与多发性硬化症有关的变异影响到了相邻的基因。这种检测进化保存CTCF分布的方法让他们能够鉴别出DNA区域中可能与多发性硬化症有关的基因。
Casares和Gomez-Skarmeta认为，新方法可有效地应用到其他疾病的鉴别。（生物谷Bioon.com）
生物谷推荐原文出处：
Nature Structural & Molecular Biology DOI:10.1038/nsmb.2059
Genome-wide CTCF distribution in vertebrates defines equivalent sites that aid the identification of disease-associated genes
David Martin; Cristina Pantoja; Ana Fernández Mi?án; Christian Valdes-Quezada; Eduardo Moltó; Fuencisla Matesanz; Ozren Bogdanovi?; Elisa de la Calle-Mustienes; Orlando Domínguez; Leila Taher; Mayra Furlan-Magaril; Antonio Alcina; Susana Ca?ón; María Fedetz; María A Blasco; Paulo S Pereira; Ivan Ovcharenko; Félix Recillas-Targa; Lluís Montoliu; Miguel Manzanares; Roderic Guigó; Manuel Serrano; Fernando Casares; José Luis Gómez-Skarmeta
Many genomic alterations associated with human diseases localize in noncoding regulatory elements located far from the promoters they regulate, making it challenging to link noncoding mutations or risk-associated variants with target genes. The range of action of a given set of enhancers is thought to be defined by insulator elements bound by the 11 zinc-finger nuclear factor CCCTC-binding protein (CTCF). Here we analyzed the genomic distribution of CTCF in various human, mouse and chicken cell types, demonstrating the existence of evolutionarily conserved CTCF-bound sites beyond mammals. These sites preferentially flank transcription factor–encoding genes, often associated with human diseases, and function as enhancer blockers in vivo, suggesting that they act as evolutionarily invariant gene boundaries. We then applied this concept to predict and functionally demonstrate that the polymorphic variants associated with multiple sclerosis located within the EVI5 gene impinge on the adjacent gene GFI1.
