Combining multiple maps reveals new genetic risk factors for blindness

Combining a map of gene regulatory sites (which control how much functional product, such as a protein, a gene produces) with disease-associated loci (position on a chromosome where a gene is located) has uncovered a new genetic risk factor of AMD, according to a study published January 17 in the open access journal PLOS Biology by Ran Elkon and Ruth Ashery-Padan of Tel Aviv University, Israel, and colleagues. The finding advances the understanding of the leading cause of visual impairment in adults. 

“Our study exemplifies how delineation of tissue-specific transcriptional regulators, their binding sites across the genome, and their downstream gene-regulatory networks can provide insights into a complex disease’s pathology,” the authors said. (Transcriptional regulators determine how much of a functional product, such as a protein, is generated from a gene, by binding to specific sites in the genome.) 

Medical Xpress, January 17, 2023; see source article, DOI: 10.1371/journal.pbio.3001924