1. The Human Genome, Gene Regulation, and Genomic Variation
- Author
-
Aislinn Cooper, Edward S. Tobias, and Kathleen M. Murphy
- Subjects
Genetics ,Genome evolution ,Biology ,Scaffold/matrix attachment region ,Gene dosage ,ChIA-PET ,Chromatin remodeling ,Epigenomics ,ChIP-sequencing ,Chromatin - Abstract
The genome’s structure is highly complex, in relation not only to its sequence but also to its spatial organization and compaction in chromatin around nucleosomal proteins. The degree of chromatin condensation is dynamic, regulated by multiple mechanisms that include covalent histone modifications and nucleosome repositioning. Gene expression, which is inversely related to chromatin compaction, is equally complex, involving regulation by proteins and by increasingly recognized small RNAs such as microRNAs. Gene expression is also affected by single-nucleotide polymorphisms and DNA copy number variants. The combined effects of these factors on gene expression include altered gene transcription, splicing patterns, and translation. The possible biological significance of the extensive regions of noncoding DNA in the genome is currently being investigated. Such data are essential to the interpretation of increasingly available whole genome array and sequencing results, both in research and in the clinical context.
- Published
- 2014