研究人員發(fā)明一種新方法,，有助于確定變異在多發(fā)性硬化癥中所發(fā)揮作用的程度,，新成果發(fā)明在5月在線出版的《自然—結構與分子生物學》期刊上。
通過人類基因組的研究,，科學家們能夠確定變異與特定疾病的關系,，但他們至今仍難以將許多變異與某個特定的基因聯系起來，從而導致了遺傳學研究與疾病治療的分離,，但是,，如果不能確定靶向基因，遺傳性疾病是難以治療的,。
Fernando Casares, Jose Luis Gomez-Skarmeta 和同事合作,，研究了一種蛋白質CTCF與DNA的進化保存結合位點，這在基因間創(chuàng)建出界線,，以便活躍的基因能夠被單獨調控,，在這個基因區(qū)域里，一種與多發(fā)性硬化癥有關的變異影響到了相鄰的基因,。這種檢測進化保存CTCF分布的方法讓他們能夠鑒別出DNA區(qū)域中可能與多發(fā)性硬化癥有關的基因,。
Casares和Gomez-Skarmeta認為，新方法可有效地應用到其他疾病的鑒別,。（生物谷Bioon.com）
生物谷推薦原文出處：
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.
