title: A genome-wide survey of genetic variation in gorillas using reduced representation sequencing.
abstract: All non-human great apes are endangered in the wild, and it is therefore important to gain an understanding of their demography and genetic diversity. Whole genome assembly projects have provided an invaluable foundation for understanding genetics in all four genera, but to date genetic studies of multiple individuals within great ape species have largely been confined to mitochondrial DNA and a small number of other loci. Here, we present a genome-wide survey of genetic variation in gorillas using a reduced representation sequencing approach, focusing on the two lowland subspecies. We identify 3,006,670 polymorphic sites in 14 individuals: 12 western lowland gorillas (Gorilla gorilla gorilla) and 2 eastern lowland gorillas (Gorilla beringei graueri). We find that the two species are genetically distinct, based on levels of heterozygosity and patterns of allele sharing. Focusing on the western lowland population, we observe evidence for population substructure, and a deficit of rare genetic variants suggesting a recent episode of population contraction. In western lowland gorillas, there is an elevation of variation towards telomeres and centromeres on the chromosomal scale. On a finer scale, we find substantial variation in genetic diversity, including a marked reduction close to the major histocompatibility locus, perhaps indicative of recent strong selection there. These findings suggest that despite their maintaining an overall level of genetic diversity equal to or greater than that of humans, population decline, perhaps associated with disease, has been a significant factor in recent and long-term pressures on wild gorilla populations.
authors.affiliation: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, United Kingdom.
authors.forename: Aylwyn
authors.initials: A
authors.lastname: Scally
authors.forename: Bryndis
authors.initials: B
authors.lastname: Yngvadottir
authors.forename: Yali
authors.initials: Y
authors.lastname: Xue
authors.forename: Qasim
authors.initials: Q
authors.lastname: Ayub
authors.forename: Richard
authors.initials: R
authors.lastname: Durbin
authors.forename: Chris
authors.initials: C
authors.lastname: Tyler-Smith
mesh_terms: D000818:Animals; D003625:Data Collection; D056727:Endangered Species; D005787:Gene Frequency; D056426:Genetic Loci / Q000235:genetics; D023281:Genomics; D005843:Geography; D006071:Gorilla gorilla / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011157:Population Dynamics; D025341:Principal Component Analysis; D017421:Sequence Analysis