Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases.

摘要: The process of excising introns from pre-mRNA complexes is directed by specific genomic DNA sequences at intron-exon borders known as splice sites. These regions contain well-conserved motifs which allow the splicing to proceed in a regulated and structured manner. However, well conventional splicing, several genes have inherent capacity undergo alternative thus allowing synthesis multiple gene transcripts, perhaps with different functional properties. Within human genome, therefore, through it possible generate over 100,000 physiological products 35,000 or so genes. Abnormalities normal however, account for about 15% all inherited single disorders, including many skin phenotype. abnormalities may arise mutations constitutive sites other critical intronic exonic regions. This review article examines what then addresses pathological disruption that leads diseases, either resulting direct influence on cryptic Examples aberrant especially COL7A1 patients dystrophic epidermolysis bullosa, are discussed illustrated. also number recently introduced computational tools can be used predict whether changes affect site selection how robust such might splicing.