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The Characterization of Enhancer Elements Involved in the Spatial Patterning of the Skin /


The epidermis is an essential tissue in a large variety of organisms, and differential regulation of keratin genes plays a vital role in maintaining its structural integrity and other various cellular processes. There are a number of diseases associated with changes in keratin gene expression, and so understanding how these keratins are regulated might help in our understanding of their functions in the epidermis. Recent studies have elucidated the large quantities of regulatory elements present in the human genome, many in places we would not have thought for them to exist. Exons of coding genes can contain regulatory elements within them, and might be having regulatory effects on proximal genes. Therefore, the keratin genes, which are collected into two distinctive clusters, could potentially contain regulatory elements in their exons. We investigated this possibility using ChIP- seq and ChIP-qPCR, and successfully identified 37 potential enhancer elements residing within the exons of keratin genes in the Keratin Cluster II (KCII). We also identified two novel enhancer elements in CDSN, another gene vital for epidermal structural integrity, and discovered that a loss of copy number of these enhancers could potentially contribute to the skin disease psoriasis

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