globalchange  > 气候变化与战略
DOI: 10.1073/pnas.1707279114
论文题名:
Survival and divergence in a small group: The extraordinary genomic history of the endangered Apennine brown bear stragglers
作者: Benazzo A.; Trucchi E.; Cahill J.A.; Delser P.M.; Mona S.; Fumagalli M.; Bunnefeld L.; Cornetti L.; Ghirotto S.; Girardi M.; Ometto L.; Panziera A.; Rota-Stabelli O.; Zanetti E.; Karamanlidis A.; Groff C.; Paule L.; Gentile L.; Vilà C.; Vicario S.; Boitani L.; Orlando L.; Fuselli S.; Vernesi C.; Shapiro B.; Ciucci P.; Bertorelle G.
刊名: Proceedings of the National Academy of Sciences of the United States of America
ISSN: 0027-8424
出版年: 2017
卷: 114, 期:45
起始页码: E9589
结束页码: E9597
语种: 英语
英文关键词: Balancing selection ; Genetic drift ; Genetic load ; Neolithic impact ; Ursus arctos
Scopus关键词: aggressiveness ; agricultural worker ; allele ; animal experiment ; Article ; balancing selection ; bone development ; brown bear ; controlled study ; Europe ; forest ; genetic drift ; genetic variability ; genomics ; human ; human tissue ; immune system ; Italy ; mitochondrial genome ; muscle weakness ; nonhuman ; olfactory system ; population size ; population structure ; priority journal ; single nucleotide polymorphism ; survival ; aggression ; animal ; bear ; DNA sequence ; genetic variation ; genetics ; genomics ; phylogeny ; physiology ; population density ; procedures ; amino acid ; Aggression ; Alleles ; Amino Acids ; Animals ; Genetic Variation ; Genome, Mitochondrial ; Genomics ; Phylogeny ; Population Density ; Rome ; Sequence Analysis, DNA ; Ursidae
英文摘要: About 100 km east of Rome, in the central Apennine Mountains, a critically endangered population of ∼50 brown bears live in complete isolation. Mating outside this population is prevented by several 100 km of bear-free territories. We exploited this natural experiment to better understand the gene and genomic consequences of surviving at extremely small population size. We found that brown bear populations in Europe lost connectivity since Neolithic times, when farming communities expanded and forest burning was used for land clearance. In central Italy, this resulted in a 40-fold population decline. The overall genomic impact of this decline included the complete loss of variation in the mitochondrial genome and along long stretches of the nuclear genome. Several private and deleterious amino acid changes were fixed by random drift; predicted effects include energy deficit, muscle weakness, anomalies in cranial and skeletal development, and reduced aggressiveness. Despite this extreme loss of diversity, Apennine bear genomes show nonrandom peaks of high variation, possibly maintained by balancing selection, at genomic regions significantly enriched for genes associated with immune and olfactory systems. Challenging the paradigm of increased extinction risk in small populations, we suggest that random fixation of deleterious alleles (i) can be an important driver of divergence in isolation, (ii) can be tolerated when balancing selection prevents random loss of variation at important genes, and (iii) is followed by or results directly in favorable behavioral changes. © 2017, National Academy of Sciences. All rights reserved.
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资源类型: 期刊论文
标识符: http://119.78.100.158/handle/2HF3EXSE/163777
Appears in Collections:气候变化与战略

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作者单位: Benazzo, A., Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, 44121, Italy; Trucchi, E., Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, 44121, Italy, Centre for Ecological and Evolutionary Synthesis, Department of Biosciences, University of Oslo, Oslo, 1066, Norway; Cahill, J.A., Department of Ecology and Evolutionary Biology, University of California, Santa Cruz, CA 95064, United States; Delser, P.M., Institute de Systematics, Evolution, Biodiversite, UMR 7205-CNRS, Muséum National d’Histoire Naturelle, Université Pierre et Marie Curie, École Pratique des Hautes Études (EPHE), CP39, Paris, 75005, France, EPHE, Paris Sciences and Lettres Research University, Paris, 75005, France, Smurfit Institute of Genetics, Trinity College, University of Dublin, Dublin 2, Ireland; Mona, S., Institute de Systematics, Evolution, Biodiversite, UMR 7205-CNRS, Muséum National d’Histoire Naturelle, Université Pierre et Marie Curie, École Pratique des Hautes Études (EPHE), CP39, Paris, 75005, France, EPHE, Paris Sciences and Lettres Research University, Paris, 75005, France; Fumagalli, M., Department of Life Sciences, Imperial College London, Ascot, SL5 7PY, United Kingdom; Bunnefeld, L., Institute of Evolutionary Biology, University of Edinburgh, Edinburgh, EH9 3FL, United Kingdom, Biological and Environmental Sciences, University of Stirling, Stirling, FK9 4LA, United Kingdom; Cornetti, L., Zoological Institute, University of Basel, Basel, 4051, Switzerland; Ghirotto, S., Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, 44121, Italy; Girardi, M., Department of Biodiversity and Molecular Ecology, Fondazione Edmund Mach, San Michele all’Adige, 38010, Italy; Ometto, L., Department of Sustainable Agro-Ecosystems and Bioresources, Fondazione Edmund Mach, San Michele all’Adige, 38010, Italy, Independent Researcher, Mezzocorona, 38016, Italy; Panziera, A., Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, 44121, Italy; Rota-Stabelli, O., Department of Sustainable Agro-Ecosystems and Bioresources, Fondazione Edmund Mach, San Michele all’Adige, 38010, Italy; Zanetti, E., Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, 44121, Italy; Karamanlidis, A., Protection and Management of Wildlife and the Natural Environment, ARCTUROS, Aetos, Florina 53075, Greece; Groff, C., Forest and Wildlife Service, Provincia Autonoma di Trento, Trento, 38100, Italy; Paule, L., Department of Phytology, Faculty of Forestry, Technical University, Zvolen, 96053, Slovakia; Gentile, L., Veterinary Service, National Park of Abruzzo Lazio and Molise, Pescasseroli, 67032, Italy; Vilà, C., Department of Integrative Ecology, Doñana Biological Station, Consejo Superior de Investigaciones Científicas, Seville, 4102, Spain; Vicario, S., Institute of Atmospheric Pollution Research and Technologies, National Research Council, Bari, 70126, Italy; Boitani, L., Department of Biology and Biotechnologies “Charles Darwin,”, University of Rome La Sapienza, Rome, 00185, Italy; Orlando, L., Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Copenhagen, 1350 K, Denmark; Fuselli, S., Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, 44121, Italy; Vernesi, C., Department of Biodiversity and Molecular Ecology, Fondazione Edmund Mach, San Michele all’Adige, 38010, Italy; Shapiro, B., Department of Ecology and Evolutionary Biology, University of California, Santa Cruz, CA 95064, United States; Ciucci, P., Department of Biology and Biotechnologies “Charles Darwin,”, University of Rome La Sapienza, Rome, 00185, Italy; Bertorelle, G., Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, 44121, Italy

Recommended Citation:
Benazzo A.,Trucchi E.,Cahill J.A.,et al. Survival and divergence in a small group: The extraordinary genomic history of the endangered Apennine brown bear stragglers[J]. Proceedings of the National Academy of Sciences of the United States of America,2017-01-01,114(45)
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