Please use this identifier to cite or link to this item: http://hdl.handle.net/1893/12760
Appears in Collections:Aquaculture Journal Articles
Peer Review Status: Refereed
Title: A phylomedicine approach to understanding the evolution of auditory sensory perception and disease in mammals
Authors: Kirwan, John D
Bekaert, Michaël
Commins, Jennifer M
Davies, Kalina TJ
Rossiter, Stephen J
Teeling, Emma C
Contact Email: michael.bekaert@stir.ac.uk
Keywords: hearing
phylomedicine
positive selection
purifying selection
Issue Date: Apr-2013
Publisher: Blackwell Publishing Ltd
Citation: Kirwan JD, Bekaert M, Commins JM, Davies KT, Rossiter SJ & Teeling EC (2013) A phylomedicine approach to understanding the evolution of auditory sensory perception and disease in mammals, Evolutionary Applications, 6 (3), pp. 412-422.
Abstract: 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 ( Myo15, Ush1g, Strc, Tecta, Tectb, Otog, Col11a2, Gjb2, Cldn14, Kcnq4, Pou3f4) 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 Myo15, Otog and Tecta. Examination of selection pressures in Tecta and Pou3f4 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.
Type: Journal Article
URI: http://hdl.handle.net/1893/12760
DOI Link: http://dx.doi.org/10.1111/eva.12047
Rights: © 2013 The Authors. Published by Blackwell Publishing Ltd. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Affiliation: University College Dublin (UCD)
Aquaculture
University College Dublin (UCD)
Queen Mary, University of London
Queen Mary, University of London
University College Dublin (UCD)

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