Titlebook: Gene Regulatory Sequences and Human Disease; Nadav Ahituv Book 2012 Springer Science+Business Media, LLC 2012 Systems Biology

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The Hemoglobin Regulatory Regions,es of naturally occurring globin gene promoter mutations and transgenic mouse investigations have contributed to our understanding of the effect of DNA mutations on globin gene expression. Furthermore, the developmental regulation of globin gene expression has shaped research efforts to establish th

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,-Regulatory Variation and Cancer,ighlighting risk variants in non-genic regions. Here, we highlight examples of cancer-associated variation in promoters, enhancers, and silencers, as well as changes to the overall architecture of a gene’s regulatory landscape. These functional characterizations bring us closer to understanding the

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,Interkulturalität: Terminologische Aspekte,ression of ., a gene that is required for development of both the lip and the palate. Second, a DNA variant in a sequence that is 1.5 Mb away from the . gene exemplifies the discovery and validation of a long-range enhancer element. This chapter also contains brief discussions of other examples of D