Chromatin conformation signatures: ideal human disease biomarkers?

被引:23
作者
Crutchley, Jennifer L. [1 ]
Wang, Xue Qing David [1 ]
Ferraiuolo, Maria A. [1 ]
Dostie, Josee [1 ]
机构
[1] McGill Univ, Dept Biochem, Montreal, PQ, Canada
关键词
3C-carbon copy; biomarker; chromatin conformation signature; chromatin structure; chromosome conformation capture; long-range regulation; transcription; COPY-NUMBER VARIATION; ENHANCER-BLOCKING ACTIVITY; LONG-RANGE INTERACTIONS; HIGHER-ORDER STRUCTURES; GENE-REGULATION; NUCLEAR ARCHITECTURE; SPATIAL-ORGANIZATION; STRUCTURAL VARIATION; ACTIVE CHROMATIN; CTCF;
D O I
10.2217/BMM.10.68
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
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.
引用
收藏
页码:611 / 629
页数:19
相关论文
共 108 条
[1]   A rapid simple approach to quantify chromosome conformation capture [J].
El Hassan, M. Abou ;
Bremner, R. .
NUCLEIC ACIDS RESEARCH, 2009, 37 (05)
[2]   Eukaryotic gene regulation in three dimensions and its impact on genome evolution [J].
Babu, M. Madan ;
Janga, Sarath Chandra ;
de Santiago, Ines ;
Pombo, Ana .
CURRENT OPINION IN GENETICS & DEVELOPMENT, 2008, 18 (06) :571-582
[3]   Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome [J].
Bassett, Anne S. ;
Marshall, Christian R. ;
Lionel, Anath C. ;
Chow, Eva W. C. ;
Scherer, Stephen W. .
HUMAN MOLECULAR GENETICS, 2008, 17 (24) :4045-4053
[4]   Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene [J].
Bell, AC ;
Felsenfeld, G .
NATURE, 2000, 405 (6785) :482-485
[5]   The complex language of chromatin regulation during transcription [J].
Berger, Shelley L. .
NATURE, 2007, 447 (7143) :407-412
[6]   Three-dimensional maps of all chromosomes in human male fibroblast nuclei and prometaphase rosettes [J].
Bolzer, A ;
Kreth, G ;
Solovei, I ;
Koehler, D ;
Saracoglu, K ;
Fauth, C ;
Müller, S ;
Eils, R ;
Cremer, C ;
Speicher, MR ;
Cremer, T .
PLOS BIOLOGY, 2005, 3 (05) :826-842
[7]   TRAPping enhancer function [J].
Bulger, M ;
Groudine, M .
NATURE GENETICS, 2002, 32 (04) :555-556
[8]   SATB1 packages densely looped, transcriptionally active chromatin for coordinated expression of cytokine genes [J].
Cai, Shutao ;
Lee, Charles C. ;
Kohwi-Shigematsu, Terumi .
NATURE GENETICS, 2006, 38 (11) :1278-1288
[9]   Tissue-specific nuclear architecture and gene expession regulated by SATB1 [J].
Cai, ST ;
Han, HJ ;
Kohwi-Shigematsu, T .
NATURE GENETICS, 2003, 34 (01) :42-51
[10]   Long-range chromatin regulatory interactions in vivo [J].
Carter, D ;
Chakalova, L ;
Osborne, CS ;
Dai, YF ;
Fraser, P .
NATURE GENETICS, 2002, 32 (04) :623-626