Open AccessVariation of miRNA target sites in the Human Genome
Author(s) -
Brad V. Bellomo,
Helen Piontkivska,
Arvind K. Bansal
Publication year - 2022
Publication title -
epic series in computing
Language(s) - English
Resource type - Conference proceedings
ISSN - 2398-7340
DOI - 10.29007/fcl4
Subject(s) - biology , microrna , computational biology , genetics , genetic variation , allele , gene , human genome , genome , human genetic variation , population , evolutionary biology , medicine , environmental health
MicroRNAs (miRNAs) are important regulators of gene expression in humans and many other organisms. Genetic variation in target sites potentially alters this regulation. Better understanding of patterns of nucleotide changes of these sites can provide new insights into human diseases such as cancer, bacterial and viral diseases. Studies of human variation of miRNA binding sites have been done before. However, we focus our study on miRNA-mRNA pairs that are known to be co-expressed. Unlike previous studies, this work considers combinations of several genetic variants, identifies those that are potentially evolutionary conserved, and considers how frequently alleles occur in the human population. New algorithm for matching the target sites has been described. Our findings confirm the putative functional significance of many alleles already reported in medical cancer-related literature, and suggest others not previously reported in literature. These alleles may be worth investigating further.