title: Population genomics of the endangered giant Galápagos tortoise.
abstract: BACKGROUND
  The giant Galápagos tortoise, Chelonoidis nigra, is a large-sized terrestrial chelonian of high patrimonial interest. The species recently colonized a small continental archipelago, the Galápagos Islands, where it has been facing novel environmental conditions and limited resource availability. To explore the genomic consequences of this ecological shift, we analyze the transcriptomic variability of five individuals of C. nigra, and compare it to similar data obtained from several continental species of turtles.
  
  
  RESULTS
  Having clarified the timing of divergence in the Chelonoidis genus, we report in C. nigra a very low level of genetic polymorphism, signatures of a weakened efficacy of purifying selection, and an elevated mutation load in coding and regulatory sequences. These results are consistent with the hypothesis of an extremely low long-term effective population size in this insular species. Functional evolutionary analyses reveal a reduced diversity of immunity genes in C. nigra, in line with the hypothesis of attenuated pathogen diversity in islands, and an increased selective pressure on genes involved in response to stress, potentially related to the climatic instability of its environment and its elongated lifespan. Finally, we detect no population structure or homozygosity excess in our five-individual sample.
  
  
  CONCLUSIONS
  These results enlighten the molecular evolution of an endangered taxon in a stressful environment and point to island endemic species as a promising model for the study of the deleterious effects on genome evolution of a reduced long-term population size.
authors.forename: Etienne
authors.initials: E
authors.lastname: Loire
authors.forename: Ylenia
authors.initials: Y
authors.lastname: Chiari
authors.forename: Aurélien
authors.initials: A
authors.lastname: Bernard
authors.forename: Vincent
authors.initials: V
authors.lastname: Cahais
authors.forename: Jonathan
authors.initials: J
authors.lastname: Romiguier
authors.forename: Benoît
authors.initials: B
authors.lastname: Nabholz
authors.forename: Joao Miguel
authors.initials: JM
authors.lastname: Lourenço
authors.forename: Nicolas
authors.initials: N
authors.lastname: Galtier
mesh_terms: D000818:Animals; D004272:DNA, Mitochondrial / Q000032:analysis; D004484:Ecuador; D056727:Endangered Species; D019143:Evolution, Molecular; D020869:Gene Expression Profiling; D040961:Genetic Drift; D016678:Genome; D056186:Metagenomics / Q000379:methods*; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D011156:Population Density; D012641:Selection, Genetic; D013312:Stress, Physiological; D014426:Turtles / Q000145:classification / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial