Human-genome single nucleotide polymorphisms affecting transcription factor binding and their role in pathogenesis.

ABSTRACT: Single nucleotide polymorphisms (SNPs) are the most common type of variation in the human genome. The vast majority of SNPs identified in the human genome do not have any effect on the phenotype; however, some can lead to changes in the function of a gene or the level of its expression. Most SNPs associated with certain traits or pathologies are mapped to regulatory regions of the genome and affect gene expression by changing transcription factor binding sites. In recent decades, substantial effort has been invested in searching for such regulatory SNPs (rSNPs) and understanding the mechanisms by which they lead to phenotypic differences, primarily to individual differences in susceptibility to diseases and in sensitivity to drugs. The development of the NGS (next-generation sequencing) te

SUBMITTER: Antontseva EV 

PROVIDER: S-EPMC10641029 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature