title: Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding.
abstract: Mountain gorillas are an endangered great ape subspecies and a prominent focus for conservation, yet we know little about their genomic diversity and evolutionary past. We sequenced whole genomes from multiple wild individuals and compared the genomes of all four Gorilla subspecies. We found that the two eastern subspecies have experienced a prolonged population decline over the past 100,000 years, resulting in very low genetic diversity and an increased overall burden of deleterious variation. A further recent decline in the mountain gorilla population has led to extensive inbreeding, such that individuals are typically homozygous at 34% of their sequence, leading to the purging of severely deleterious recessive mutations from the population. We discuss the causes of their decline and the consequences for their future survival.
authors: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
authors: Yali
authors: Y
authors: Xue
authors: Institut de Biologia Evolutiva (CSIC/UPF), Parque de Investigación Biomédica de Barcelona (PRBB), Barcelona, Catalonia 08003, Spain.
authors: Javier
authors: J
authors: Prado-Martinez
authors: Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
authors: Peter H
authors: PH
authors: Sudmant
authors: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.|Department of Applied Mathematics and Theoretical Physics, University of Cambridge, Cambridge CB3 0WA, UK.
authors: Vagheesh
authors: V
authors: Narasimhan
authors: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
authors: Qasim
authors: Q
authors: Ayub
authors: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
authors: Michal
authors: M
authors: Szpak
authors: Department of Biology, University of Copenhagen, DK-2200 Copenhagen N, Denmark.
authors: Peter
authors: P
authors: Frandsen
authors: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
authors: Yuan
authors: Y
authors: Chen
authors: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
authors: Bryndis
authors: B
authors: Yngvadottir
authors: Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK.
authors: David N
authors: DN
authors: Cooper
authors: Institut de Biologia Evolutiva (CSIC/UPF), Parque de Investigación Biomédica de Barcelona (PRBB), Barcelona, Catalonia 08003, Spain.
authors: Marc
authors: M
authors: de Manuel
authors: Institut de Biologia Evolutiva (CSIC/UPF), Parque de Investigación Biomédica de Barcelona (PRBB), Barcelona, Catalonia 08003, Spain.
authors: Jessica
authors: J
authors: Hernandez-Rodriguez
authors: Institut de Biologia Evolutiva (CSIC/UPF), Parque de Investigación Biomédica de Barcelona (PRBB), Barcelona, Catalonia 08003, Spain.
authors: Irene
authors: I
authors: Lobon
authors: Department of Biology, University of Copenhagen, DK-2200 Copenhagen N, Denmark.
authors: Hans R
authors: HR
authors: Siegismund
authors: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.|Department of Biological, Geological and Environmental Sciences, University of Bologna, 40134 Bologna, Italy.
authors: Luca
authors: L
authors: Pagani
authors: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
authors: Michael A
authors: MA
authors: Quail
authors: Research and Conservation, Copenhagen Zoo, DK-2000 Frederiksberg, Denmark.
authors: Christina
authors: C
authors: Hvilsom
authors: Rwanda Development Board, KG 9 Avenue, Kigali, Rwanda.
authors: Antoine
authors: A
authors: Mudakikwa
authors: Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.|Howard Hughes Medical Institute, Seattle, WA 91895, USA.
authors: Evan E
authors: EE
authors: Eichler
authors: Gorilla Doctors, Karen C. Drayer Wildlife Health Center, University of California, Davis, CA 95616, USA.
authors: Michael R
authors: MR
authors: Cranfield
authors: Institut de Biologia Evolutiva (CSIC/UPF), Parque de Investigación Biomédica de Barcelona (PRBB), Barcelona, Catalonia 08003, Spain.|Centro Nacional de Análisis Genómico (Parc Cientific de Barcelona), Baldiri Reixac 4, 08028 Barcelona, Spain.
authors: Tomas
authors: T
authors: Marques-Bonet
authors: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
authors: Chris
authors: C
authors: Tyler-Smith
authors: Department of Genetics, University of Cambridge, Cambridge CB2 3EH, UK.
authors: Aylwyn
authors: A
authors: Scally
mesh_terms: D000222:Adaptation, Physiological; D000818:Animals; D005075:Biological Evolution; D056915:DNA Copy Number Variations; D015023:Democratic Republic of the Congo; D056727:Endangered Species; D005260:Female; D014644:Genetic Variation; D016678:Genome; D006071:Gorilla gorilla / Q000145:classification / Q000235:genetics* / Q000502:physiology; D006720:Homozygote; D007178:Inbreeding; D015810:Linkage Disequilibrium; D008297:Male; D009154:Mutation; D011157:Population Dynamics; D012432:Rwanda; D012641:Selection, Genetic; D017422:Sequence Analysis, DNA; D013045:Species Specificity; D013997:Time Factors