Draft from 'Purging of deleterious burden in the endangered Iberian lynx'

Autor: Kleinman-Ruiz, Daniel, Lucena-Pérez, María, Villanueva, Beatriz, Fernández, Jesús, Saveljev, Alexander P., Ratkiewicz, Mirosław, Schmidt, Krzysztof, Galtier, N., García-Dorado, Aurora, Godoy, José A.
Přispěvatelé: Ministerio de Ciencia e Innovación (España), European Commission, National Science Centre (Poland), Russian Science Foundation, Fundación 'la Caixa', Ministerio de Asuntos Económicos y Transformación Digital (España)
Rok vydání: 2022
Předmět:
Zdroj: Digital.CSIC. Repositorio Institucional del CSIC
instname
Popis: Deleterious mutations continuously accumulate in populations building up a burden that can threaten their survival, particularly in small populations when inbreeding exposes recessive deleterious effects. Notwithstanding, this process also triggers genetic purging, which can reduce the deleterious burden and mitigate fitness inbreeding depression. Here, we analyzed 20 whole genomes from the endangered Iberian lynx and 28 from the widespread Eurasian lynx, sister species which constitute a good model to study the dynamics of deleterious mutation burden under contrasting demographies, manifested in the consistently smaller population size and distribution area of the Iberian lynx. We also derived analytical predictions for the evolution of the deleterious burden following a bottleneck. We found 11% fewer derived alleles for the more putatively deleterious missense category in the Iberian lynx than in the Eurasian lynx, which in light of our theoretical predictions should be ascribed to historical purging. No signs of purging were found in centromeres nor in the X-chromosome, where selection against recessive deleterious alleles is less affected by demography. The similar deleterious burden levels for conspecific populations despite their contrasting recent demographies also point to sustained differences in historical population sizes since species divergence as the main driver of the augmented purging in the Iberian lynx. Beyond adding to the on-going debate on the relationship between deleterious burden and population size, and on the impact of genetic factors in endangered species viability, this work contributes a whole-genome catalogue of deleterious variants, which may become a valuable resource for future conservation efforts.
This work was supported by the Dirección General de Investigación Científica y Técnica of the Spanish Ministerio de Ciencia e Innovación (projects CGL2013-47755-P and CGL2017-84641-P to J.A.G., and project PGC2018-095810-B-I00 to A.G.-D). Iberian lynx samples were kindly provided by the Centro de Análisis y Diagnóstico de la Fauna Silvestre (C.A.D.), the Iberian lynx ex situ conservation programme, and the Life+IBERLINCE project (LIFE10NAT/ES/570). Eurasian lynx samples and additional support were provided by the Polish National Science Center (project 2014/15/B/NZ8/00212 to K.S.), the European Union’s Seventh Framework Programme (Marie Curie Actions) under the project "Biodiversity of East-European and Siberian large mammals on the level of genetic variation of populations – BIOGEAST” (contract PIRSES- GA-2009-247652), and the Russian Science Foundation (project 18-14-00093 to A.P.S.). We are grateful to Ingrid Reinkind for kindly providing the Eurasian lynx samples from Norway. D.K.R. and M.L.P. were supported by PhD contracts from Programa Internacional de Becas “La Caixa-Severo Ochoa”, with funding from “La Caixa” Foundation (ID 100010434) under agreements LCF/BQ/SO15/52260006 and LCF/BQ/SO14/52250035, respectively. Logistical support was provided by the Laboratorio de Ecología Molecular (LEM-EBD) certified to ISO9001:2015 and ISO14001:2015 quality and environmental management systems. Data processing and most calculations and analyses were carried out on the Genomics servers of Doñana's Singular Scientific-Technical Infrastructure (ICTS-RBD). EBD-CSIC received support from the Spanish Ministerio de Asuntos Económicos y Transformación Digital under the “Centro de Excelencia Severo Ochoa 2013-2017” programme (grant SEV-2012-0262). We are very grateful to Elena Marmesat, Enrico Bazzicalupo, Laura Soriano, Ana Píriz, Arturo Marín, José Luis Castro, Antonio Cuevas, Ana Fernández, and P. James Macaluso Jr. for their help; to Peter Keightley, Aylwyn Scally, and Federico Abascal for answering some questions; and to the anonymous reviewers who have contributed to improving this study.
Databáze: OpenAIRE