Long-range control of gene expression: emerging mechanisms and disruption in disease.

By D. Kleinjan, V. van Heyningen. American Journal of Human Genetics, 2005

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Exploring the three-dimensional organization of genomes: interpreting chromatin interaction data (2013, background): “Third, regulatory elements are often assumed to regulate the nearest gene, even though previous genetic studies have provided examples in which this is not the case 53 .”
Cis-regulatory elements: molecular mechanisms and evolutionary processes underlying divergence (2011, background): “Enhancers are typically located upstream (5′), downstream (3′) or in the intron (or introns) of the gene that they regulate, but they can also be located far awa”
Annotating non-coding regions of the genome (2010, background): “SNPs in many non-coding regions have been linked to disease in genome-wide association (GWA) studie”
Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes (2005, background): “Position effects have been observed also with deletion [60] and duplication [62]”
Long‐range chromosomal interactions regulate the timing of the transition between poised and active gene expression (2007, background): “Cis-acting regulatory sequences may be located tens or even hundreds of kilobases from the genes they control ( Kleinjan and van Heyningen, 2005 ), but how they act over such long distances and the mechanisms by which they influence gene expression are poorly understood; understanding this represent”