Subterranean mammals show convergent regression in ocular genes and enhancers, along with adaptation to tunneling

The underground environment imposes unique demands on life that have led subterranean species to evolve specialized traits, many of which evolved convergently. We studied convergence in evolutionary rate in subterranean mammals in order to associate phenotypic evolution with specific genetic regions...

Full description

Bibliographic Details
Main Authors: Raghavendran Partha, Bharesh K Chauhan, Zelia Ferreira, Joseph D Robinson, Kira Lathrop, Ken K Nischal, Maria Chikina, Nathan L Clark
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2017-10-01
Series:eLife
Subjects:
Online Access:https://elifesciences.org/articles/25884
_version_ 1811199316866367488
author Raghavendran Partha
Bharesh K Chauhan
Zelia Ferreira
Joseph D Robinson
Kira Lathrop
Ken K Nischal
Maria Chikina
Nathan L Clark
author_facet Raghavendran Partha
Bharesh K Chauhan
Zelia Ferreira
Joseph D Robinson
Kira Lathrop
Ken K Nischal
Maria Chikina
Nathan L Clark
author_sort Raghavendran Partha
collection DOAJ
description The underground environment imposes unique demands on life that have led subterranean species to evolve specialized traits, many of which evolved convergently. We studied convergence in evolutionary rate in subterranean mammals in order to associate phenotypic evolution with specific genetic regions. We identified a strong excess of vision- and skin-related genes that changed at accelerated rates in the subterranean environment due to relaxed constraint and adaptive evolution. We also demonstrate that ocular-specific transcriptional enhancers were convergently accelerated, whereas enhancers active outside the eye were not. Furthermore, several uncharacterized genes and regulatory sequences demonstrated convergence and thus constitute novel candidate sequences for congenital ocular disorders. The strong evidence of convergence in these species indicates that evolution in this environment is recurrent and predictable and can be used to gain insights into phenotype–genotype relationships.
first_indexed 2024-04-12T01:47:10Z
format Article
id doaj.art-3fee9cd90e3946e7a883fc4e029ebc93
institution Directory Open Access Journal
issn 2050-084X
language English
last_indexed 2024-04-12T01:47:10Z
publishDate 2017-10-01
publisher eLife Sciences Publications Ltd
record_format Article
series eLife
spelling doaj.art-3fee9cd90e3946e7a883fc4e029ebc932022-12-22T03:53:03ZengeLife Sciences Publications LtdeLife2050-084X2017-10-01610.7554/eLife.25884Subterranean mammals show convergent regression in ocular genes and enhancers, along with adaptation to tunnelingRaghavendran Partha0https://orcid.org/0000-0002-7900-4375Bharesh K Chauhan1https://orcid.org/0000-0002-6429-9190Zelia Ferreira2https://orcid.org/0000-0002-7619-7466Joseph D Robinson3Kira Lathrop4Ken K Nischal5Maria Chikina6Nathan L Clark7https://orcid.org/0000-0003-0006-8374Department of Computational and Systems Biology, University of Pittsburgh, Pittsburgh, United StatesUPMC Eye Center, Children’s Hospital of Pittsburgh, Pittsburgh, United States; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, United StatesDepartment of Computational and Systems Biology, University of Pittsburgh, Pittsburgh, United StatesDepartment of Molecular and Cell Biology, University of California, Berkeley, United StatesUPMC Eye Center, Children’s Hospital of Pittsburgh, Pittsburgh, United States; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, United StatesUPMC Eye Center, Children’s Hospital of Pittsburgh, Pittsburgh, United States; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, United StatesDepartment of Computational and Systems Biology, University of Pittsburgh, Pittsburgh, United StatesDepartment of Computational and Systems Biology, University of Pittsburgh, Pittsburgh, United StatesThe underground environment imposes unique demands on life that have led subterranean species to evolve specialized traits, many of which evolved convergently. We studied convergence in evolutionary rate in subterranean mammals in order to associate phenotypic evolution with specific genetic regions. We identified a strong excess of vision- and skin-related genes that changed at accelerated rates in the subterranean environment due to relaxed constraint and adaptive evolution. We also demonstrate that ocular-specific transcriptional enhancers were convergently accelerated, whereas enhancers active outside the eye were not. Furthermore, several uncharacterized genes and regulatory sequences demonstrated convergence and thus constitute novel candidate sequences for congenital ocular disorders. The strong evidence of convergence in these species indicates that evolution in this environment is recurrent and predictable and can be used to gain insights into phenotype–genotype relationships.https://elifesciences.org/articles/25884convergent evolutionregressive evolutionsubterranean lifegenetics of visionrelaxation of constraintfunctional constraint
spellingShingle Raghavendran Partha
Bharesh K Chauhan
Zelia Ferreira
Joseph D Robinson
Kira Lathrop
Ken K Nischal
Maria Chikina
Nathan L Clark
Subterranean mammals show convergent regression in ocular genes and enhancers, along with adaptation to tunneling
eLife
convergent evolution
regressive evolution
subterranean life
genetics of vision
relaxation of constraint
functional constraint
title Subterranean mammals show convergent regression in ocular genes and enhancers, along with adaptation to tunneling
title_full Subterranean mammals show convergent regression in ocular genes and enhancers, along with adaptation to tunneling
title_fullStr Subterranean mammals show convergent regression in ocular genes and enhancers, along with adaptation to tunneling
title_full_unstemmed Subterranean mammals show convergent regression in ocular genes and enhancers, along with adaptation to tunneling
title_short Subterranean mammals show convergent regression in ocular genes and enhancers, along with adaptation to tunneling
title_sort subterranean mammals show convergent regression in ocular genes and enhancers along with adaptation to tunneling
topic convergent evolution
regressive evolution
subterranean life
genetics of vision
relaxation of constraint
functional constraint
url https://elifesciences.org/articles/25884
work_keys_str_mv AT raghavendranpartha subterraneanmammalsshowconvergentregressioninoculargenesandenhancersalongwithadaptationtotunneling
AT bhareshkchauhan subterraneanmammalsshowconvergentregressioninoculargenesandenhancersalongwithadaptationtotunneling
AT zeliaferreira subterraneanmammalsshowconvergentregressioninoculargenesandenhancersalongwithadaptationtotunneling
AT josephdrobinson subterraneanmammalsshowconvergentregressioninoculargenesandenhancersalongwithadaptationtotunneling
AT kiralathrop subterraneanmammalsshowconvergentregressioninoculargenesandenhancersalongwithadaptationtotunneling
AT kenknischal subterraneanmammalsshowconvergentregressioninoculargenesandenhancersalongwithadaptationtotunneling
AT mariachikina subterraneanmammalsshowconvergentregressioninoculargenesandenhancersalongwithadaptationtotunneling
AT nathanlclark subterraneanmammalsshowconvergentregressioninoculargenesandenhancersalongwithadaptationtotunneling