Long-Range Control of Gene Expression: Emerging Mechanisms and Disruption in Disease

摘要: Transcriptional control is a major mechanism for regulating gene expression. The complex machinery required to effect this still emerging from functional and evolutionary analysis of genomic architecture. In addition the promoter, many other regulatory elements are spatiotemporally quantitatively correct Enhancer repressor may reside in introns or up- downstream transcription unit. For some genes with highly expression patterns—often those that function as key developmental genes—the cis-regulatory domain can extend long distances outside Some earliest hints came disease-associated chromosomal breaks positioned well relevant gene. With availability wide-ranging genome sequence comparisons, strong conservation noncoding regions became obvious. Functional studies have shown these conserved sites be transcriptional sometimes inside unrelated neighboring genes. Such sequence-conserved generally harbor tissue-specific DNA-binding proteins. Developmentally variable chromatin conformation protein access regulate transcription. Disruption finely tuned mechanisms cause disease. element mutations will associated phenotypes distinct any identified coding-region mutations.