Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding

Yali Xue; Javier Prado-Martinez; Peter H Sudmant; Vagheesh Narasimhan; Qasim Ayub; Michal Szpak; Peter Frandsen; Yuan Chen; Bryndis Yngvadottir; David N Cooper; Marc de Manuel; Jessica Hernandez-Rodriguez; Irene Lobon; Hans Redlef Siegismund; Luca Pagani; Michael A Quail; Christina Hvilsom; Antoine Mudakikwa; Evan E Eichler; Michael R Cranfield; Tomas Marques-Bonet; Chris Tyler-Smith; Aylwyn Scally

doi:10.1126/science.aaa3952

Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding

Yali Xue, Javier Prado-Martinez, Peter H Sudmant, Vagheesh Narasimhan, Qasim Ayub, Michal Szpak, Peter Frandsen, Yuan Chen, Bryndis Yngvadottir, David N Cooper, Marc de Manuel, Jessica Hernandez-Rodriguez, Irene Lobon, Hans Redlef Siegismund, Luca Pagani, Michael A Quail, Christina Hvilsom, Antoine Mudakikwa, Evan E Eichler, Michael R CranfieldTomas Marques-Bonet, Chris Tyler-Smith, Aylwyn Scally

Computational and RNA Biology

127 Citations (Scopus)

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.

Original language	English
Journal	Science (New York, N.Y.)
Volume	348
Issue number	6231
Pages (from-to)	242-245
Number of pages	4
ISSN	0036-8075
DOIs	https://doi.org/10.1126/science.aaa3952
Publication status	Published - 10 Apr 2015

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Xue, Y., Prado-Martinez, J., Sudmant, P. H., Narasimhan, V., Ayub, Q., Szpak, M., Frandsen, P., Chen, Y., Yngvadottir, B., Cooper, D. N., de Manuel, M., Hernandez-Rodriguez, J., Lobon, I., Siegismund, H. R., Pagani, L., Quail, M. A., Hvilsom, C., Mudakikwa, A., Eichler, E. E., ... Scally, A. (2015). Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding. Science (New York, N.Y.), 348(6231), 242-245. https://doi.org/10.1126/science.aaa3952

Xue, Y, Prado-Martinez, J, Sudmant, PH, Narasimhan, V, Ayub, Q, Szpak, M, Frandsen, P, Chen, Y, Yngvadottir, B, Cooper, DN, de Manuel, M, Hernandez-Rodriguez, J, Lobon, I, Siegismund, HR, Pagani, L, Quail, MA, Hvilsom, C, Mudakikwa, A, Eichler, EE, Cranfield, MR, Marques-Bonet, T, Tyler-Smith, C & Scally, A 2015, 'Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding', Science (New York, N.Y.), vol. 348, no. 6231, pp. 242-245. https://doi.org/10.1126/science.aaa3952

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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.",

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AU - Xue, Yali

AU - Prado-Martinez, Javier

AU - Sudmant, Peter H

AU - Narasimhan, Vagheesh

AU - Ayub, Qasim

AU - Szpak, Michal

AU - Frandsen, Peter

AU - Chen, Yuan

AU - Yngvadottir, Bryndis

AU - Cooper, David N

AU - de Manuel, Marc

AU - Hernandez-Rodriguez, Jessica

AU - Lobon, Irene

AU - Siegismund, Hans Redlef

AU - Pagani, Luca

AU - Quail, Michael A

AU - Hvilsom, Christina

AU - Mudakikwa, Antoine

AU - Eichler, Evan E

AU - Cranfield, Michael R

AU - Marques-Bonet, Tomas

AU - Tyler-Smith, Chris

AU - Scally, Aylwyn

PY - 2015/4/10

Y1 - 2015/4/10

N2 - 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.

AB - 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.

U2 - 10.1126/science.aaa3952

DO - 10.1126/science.aaa3952

M3 - Journal article

C2 - 25859046

SN - 0036-8075

VL - 348

SP - 242

EP - 245

JO - Science (New York, N.Y.)

JF - Science (New York, N.Y.)

IS - 6231

ER -

Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding

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