Please use this identifier to cite or link to this item: http://hdl.handle.net/1893/12760
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dc.contributor.authorKirwan, John Den_UK
dc.contributor.authorBekaert, Michaëlen_UK
dc.contributor.authorCommins, Jennifer Men_UK
dc.contributor.authorDavies, Kalina TJen_UK
dc.contributor.authorRossiter, Stephen Jen_UK
dc.contributor.authorTeeling, Emma Cen_UK
dc.date.accessioned2018-01-20T01:08:32Z-
dc.date.available2018-01-20T01:08:32Z-
dc.date.issued2013-04en_UK
dc.identifier.urihttp://hdl.handle.net/1893/12760-
dc.description.abstractHereditary 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.en_UK
dc.language.isoenen_UK
dc.publisherBlackwell Publishing Ltden_UK
dc.relationKirwan 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. https://doi.org/10.1111/eva.12047en_UK
dc.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.en_UK
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/en_UK
dc.subjecthearingen_UK
dc.subjectphylomedicineen_UK
dc.subjectpositive selectionen_UK
dc.subjectpurifying selectionen_UK
dc.subjectOtorhinolaryngologyen_UK
dc.subjectNeurosciences.en_UK
dc.titleA phylomedicine approach to understanding the evolution of auditory sensory perception and disease in mammalsen_UK
dc.typeJournal Articleen_UK
dc.identifier.doi10.1111/eva.12047en_UK
dc.citation.jtitleEvolutionary Applicationsen_UK
dc.citation.issn1752-4571en_UK
dc.citation.issn1752-4563en_UK
dc.citation.volume6en_UK
dc.citation.issue3en_UK
dc.citation.spage412en_UK
dc.citation.epage422en_UK
dc.citation.publicationstatusPublisheden_UK
dc.citation.peerreviewedRefereeden_UK
dc.type.statusVoR - Version of Recorden_UK
dc.author.emailmichael.bekaert@stir.ac.uken_UK
dc.contributor.affiliationUniversity College Dublin (UCD)en_UK
dc.contributor.affiliationInstitute of Aquacultureen_UK
dc.contributor.affiliationUniversity College Dublin (UCD)en_UK
dc.contributor.affiliationQueen Mary, University of Londonen_UK
dc.contributor.affiliationQueen Mary, University of Londonen_UK
dc.contributor.affiliationUniversity College Dublin (UCD)en_UK
dc.identifier.isiWOS:000316957800002en_UK
dc.identifier.scopusid2-s2.0-84875682200en_UK
dc.identifier.wtid709848en_UK
dc.contributor.orcid0000-0002-1206-7654en_UK
dc.date.accepted2012-12-21en_UK
dcterms.dateAccepted2012-12-21en_UK
dc.date.filedepositdate2013-05-06en_UK
rioxxterms.typeJournal Article/Reviewen_UK
rioxxterms.versionVoRen_UK
local.rioxx.authorKirwan, John D|en_UK
local.rioxx.authorBekaert, Michaël|0000-0002-1206-7654en_UK
local.rioxx.authorCommins, Jennifer M|en_UK
local.rioxx.authorDavies, Kalina TJ|en_UK
local.rioxx.authorRossiter, Stephen J|en_UK
local.rioxx.authorTeeling, Emma C|en_UK
local.rioxx.projectInternal Project|University of Stirling|https://isni.org/isni/0000000122484331en_UK
local.rioxx.freetoreaddate2013-05-06en_UK
local.rioxx.licencehttp://creativecommons.org/licenses/by/3.0/|2013-05-06|en_UK
local.rioxx.filenameeva12047.pdfen_UK
local.rioxx.filecount1en_UK
local.rioxx.source1752-4563en_UK
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