These studies have shed light on the prevalence and functional importance ofĪlternative splicing variation in human populations. Another study used the same exon array platform toĬharacterize tissue-specific control of alternative splicing in brain and peripheralīlood mononuclear cell samples. With single-nucleotide polymorphisms (SNPs) were tested to identify splicing In these studies, the microarray probe intensities of individual exons wereĬompared to those of whole genes to quantify exon inclusion levels and then associations The first few studies utilized the Affymetrix exon array with approximatelyĦ million exon-targeted probes. Genomic variants have been extensively characterized by the HapMap and 1000 Genomes projects. Populations were carried out on the HapMap lymphoblastoid B cell lines (LCLs), whose To date, most genome-wide surveys of alternative splicing variation in human Gene SCN1A can influence the response to antiepileptic drugs. For example, genetic variation of alternative splicing in the sodium channel That such natural variation of alternative splicing can influence complex traits or Subsequently affect gene expression or protein activity. Genetic polymorphisms that alter cis splicing regulatory elementsĬan result in difference of alternative splicing among human individuals and The control of AS is mediated through extensive protein-RNA interactions involvingĬis regulatory elements and trans acting factors. Gene can have significant phenotypic consequences and cause various diseases. Changes in the relative ratio of alternatively spliced isoforms of a single More than 90% of human genes are alternatively spliced. AS is a major contributor to the control of gene expression and proteinĭiversity. Alternative splicing (AS) is the process by which exons from precursor mRNA transcriptsĪre differentially included during splicing, resulting in different mature mRNA isoformsįrom a single gene locus.
0 kommentar(er)
