Associating Altered Gene Expression With Repetitive Sequences


Associating Altered Gene Expression With Repetitive Sequences

Repetitive sequences are DNA sequences that occur many times in the genome. It has been experimentally shown that repetitive sequences can increase or decrease the expression levels of nearby genes by a variety of mechanisms and that the ability of repetitive sequences to alter gene expression depends on their epigenetic states. The epigenetic states of repetitive sequences depend on random epigenetic drift, stress, the genomic environment of the repetitive sequence, epigenetic inheritance, mutations in the genome, and other factors. Since repetitive sequences constitute approximately one half of the human and mouse genomes, the influence of repetitive sequences on gene expression in the mammalian genome is probably considerable. However, methods to detect and map such effects are lacking. These researchers have developed, and are continuing to develop, methods to associate gene expression changes with repetitive sequences. They use their associations to examine the epigenetic effects of mutations in mice and to implicate and examine the roles of epigenetic defects in human disease.  They are using microarray data, RNA-seq data and DNA sequence data, and Chip-Seq data.

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