气候变化领域集成服务门户(CCPortal): Survival and divergence in a small group: The extraordinary genomic history of the endangered Apennine brown bear stragglers

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DOI	10.1073/pnas.1707279114
	Survival and divergence in a small group: The extraordinary genomic history of the endangered Apennine brown bear stragglers
	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.
发表日期	2017
ISSN	0027-8424
起始页码	E9589
结束页码	E9597
卷号	114 期号:45
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.
英文关键词	Balancing selection; Genetic drift; Genetic load; Neolithic impact; Ursus arctos
语种	英语
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
来源期刊	Proceedings of the National Academy of Sciences of the United States of America
文献类型	期刊论文
条目标识符	http://gcip.llas.ac.cn/handle/2XKMVOVA/160578
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 Étude...
推荐引用方式 GB/T 7714	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],2017,114(45).
APA	Benazzo A..,Trucchi E..,Cahill J.A..,Delser P.M..,Mona S..,...&Bertorelle G..(2017).Survival and divergence in a small group: The extraordinary genomic history of the endangered Apennine brown bear stragglers.Proceedings of the National Academy of Sciences of the United States of America,114(45).
MLA	Benazzo A.,et al."Survival and divergence in a small group: The extraordinary genomic history of the endangered Apennine brown bear stragglers".Proceedings of the National Academy of Sciences of the United States of America 114.45(2017).