10.6084/m9.figshare.9807860.v2
Tainã Cardoso
Tainã
Cardoso
María Gracia Luigi
María Gracia
Luigi
Raul Tonda
Raul
Tonda
Anna Castelló
Anna
Castelló
Betlem Cabrera
Betlem
Cabrera
Antonia Noce
Antonia
Noce
Sergi Beltrán
Sergi
Beltrán
Emilio Mármol-Sánchez
Emilio
Mármol-Sánchez
Ricardo García-González
Ricardo
García-González
Alberto Fernández-Arias
Alberto
Fernández-Arias
José Folch
José
Folch
Jordi López-Olvera
Jordi
López-Olvera
Gregorio Mentaberre
Gregorio
Mentaberre
José Enrique Granados-Torres
José Enrique
Granados-Torres
Jesús Cardells-Peris
Jesús
Cardells-Peris
Armand Sànchez
Armand
Sànchez
Alex Clop
Alex
Clop
Marcel Amills
Marcel
Amills
Detecting interspecific hybridization with Illumina SNP BeadChips: A case study based on the Spanish ibex
figshare
2019
Capra pyrenaic
nonsense mutation
mutational load
bottleneck
population admixture
Genetics
2019-09-11 18:59:26
Dataset
https://figshare.com/articles/dataset/Detecting_interspecific_hybridization_with_Illumina_SNP_BeadChips_A_case_study_based_on_the_Spanish_ibex/9807860
<p><b>Background</b></p>
<p>The Spanish ibex (<i>Capra
pyrenaica</i>) is a wild goat species distributed in the Iberian Peninsula. Four
subspecies have been defined: <i>C. p. hispanica</i> (CPH, south and east of the Iberian Peninsula), <i>C. p. victoriae</i>
(CPV, center and northwest of the Iberian
Peninsula), <i>C. p. lusitanica</i> (CPL, Galicia and
north of Portugal) and <i>C. p. pyrenaica</i> (CPP, Pyrenees mountains). Hunting,
epidemics and habitat loss caused the extinction of CPL (disappeared in the 19<sup>th</sup>
century) and CPP (extinct in the year 2000) as well as severe population
bottlenecks decreasing the diversity of CPV and CPH. There are evidences that
the coexistence of Spanish ibex populations with domestic goats raised in
mountainous areas might have favoured the occurrence of hybridization events
between both species. In the current work, we wanted to investigate these
putative hybridization events by using genome-wide diversity data. We also wanted to evaluate whether the
population bottleneck experienced by CPP resulted in the accumulation of
deleterious mutations with harmful effects on viability and reproductive
success. </p>
<p><b>Findings</b></p>
<p>By using a high throughput genotyping approach, we
have identified the presence of Spanish ibexes introgressed with domestic goats
in Tortosa-Beceite. Individual sequencing of one of the last CPP
representatives (16× coverage) and Pool-sequencing (39× coverage) of 30 CPH and
23 CPV individuals revealed an extensive sharing of SNPs (74%) between the CPP
individual and the extant CPV and CPH subspecies, Sequencing experiments also
revealed that the genome of one of the last CPP representatives contains
stop-gained mutations, with heterozygous genotypes, in the <i>WASF2</i>, <i>RBM17</i> and <i>SERPINB10</i> genes. The inactivation of
WASF2 and RBM17 causes embryonic lethality, while SERPINB10 belongs to a family
of serin proteases with key roles in immunity and other biological processes. </p>
<p><b>Conclusions</b></p>
<p>We have demonstrated that interspecific hybridization
with domestic goats has been an important source of novel variability for
Spanish ibexes living in Tortosa-Beceite. The presence of stop-gained mutations
with highly harmful effects in the genome of one of the last representatives of
the CPP subspecies suggests that its extinction might be partly explained by
the progressive accumulation of mutations with adverse consequences on fitness
and reproductive success. </p>