An evolutionary-driven approach to detect critical coding and non-coding regions in deafness

Abstract

Genome-wide studies identifying critical innovations in coding and non-coding DNA are continually growing, but the evidence showing how these genetic changes may simultaneously impact phenotype is scarce. In the inner ear, no studies have previously addressed the relevance of coding and non-coding DNA for its impact on evolution, development or disease. Classical and recent studies on non-syndromic hearing loss, a condition that affects approximately 1 in 1000 human newborns, have identified possible causal genes. We hypothesize that these hearing loss genes must play a critical role in the development and physiology of the mammalian inner ear and have thus been a critical target during evolution.