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Genome-wide CTCF distribution in vertebrates defines equivalent sites that aid the identification of disease-associated genes.

Abstract：

: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.

journal_name

Nat Struct Mol Biol

journal_title

Nature structural & molecular biology

authors

Martin D,Pantoja C,Fernández Miñán A,Valdes-Quezada C,Moltó E,Matesanz F,Bogdanović O,de la Calle-Mustienes E,Domínguez O,Taher L,Furlan-Magaril M,Alcina A,Cañón S,Fedetz M,Blasco MA,Pereira PS,Ovcharenko I,Recillas-Tar

doi

10.1038/nsmb.2059

subject

Has Abstract

pub_date

2011-06-01 00:00:00

pages

708-14

issue

6

eissn

1545-9993

issn

1545-9985

pii

nsmb.2059

journal_volume

18

pub_type

杂志文章

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