Enhancersekvens
Enhancersekvens, or enhancer sequences, are regulatory DNA elements that increase transcription of specific genes. They do not encode proteins and can act at a distance from their target gene, functioning upstream, downstream, or within introns. Enhancers are often orientation independent and can regulate gene expression in a tissue- and time-specific manner.
Mechanism and role: Enhancers work by binding transcription factors and coactivator complexes. The bound proteins promote
Identification and features: Enhancers are marked by characteristic chromatin signatures, such as H3K4me1 and H3K27ac, and
Types and significance: Distal enhancers are located far from their target genes; promoter-proximal enhancers lie near
Clinical relevance: Variants in enhancer sequences can alter gene expression and contribute to diseases, including cancer
Example: The beta-globin locus control region is a well-known regulatory hub that controls globin gene expression