Open AccessA phylomedicine approach to understanding the evolution of auditory sensory perception and disease in mammals
Author(s) -
Kirwan John D.,
Bekaert Michaël,
Commins Jennifer M.,
Davies Kalina T. J.,
Rossiter Stephen J.,
Teeling Emma C.
Publication year - 2013
Publication title -
evolutionary applications
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.776
H-Index - 68
ISSN - 1752-4571
DOI - 10.1111/eva.12047
Subject(s) - biology , evolutionary biology , human echolocation , phylogenetics , genetics , gene , neuroscience
Hereditary deafness affects 0.1% of individuals globally and is considered as one of the most debilitating diseases of man. Despite recent advances, the molecular basis of normal auditory function is not fully understood and little is known about the contribution of single‐nucleotide variations to the disease. Using cross‐species comparisons of 11 ‘deafness’ genes ( M yo15 , U sh1 g , S trc , T ecta , T ectb , O tog , C ol11a2 , G jb2 , C ldn14 , K cnq4 , P ou3f4 ) across 69 evolutionary and ecologically divergent mammals, we elucidated whether there was evidence for: (i) adaptive evolution acting on these genes across mammals with similar hearing capabilities; and, (ii) regions of long‐term evolutionary conservation within which we predict disease‐associated mutations should occur. We find evidence of adaptive evolution acting on the eutherian mammals in M yo15 , O tog and T ecta . Examination of selection pressures in T ecta and P ou3f4 across a taxonomic sample that included a wide representation of auditory specialists, the bats, did not uncover any evidence for a role in echolocation. We generated ‘conservation indices’ based on selection estimates at nucleotide sites and found that known disease mutations fall within sites of high evolutionary conservation. We suggest that methods such as this, derived from estimates of evolutionary conservation using phylogenetically divergent taxa, will help to differentiate between deleterious and benign mutations.