The Genetic Population Structure of Robinson Crusoe Island, Chile

Research output: Contribution to journalArticlepeer-review

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The Genetic Population Structure of Robinson Crusoe Island, Chile. / Mountford, Hayley S; Villanueva, Pía; Fernández, María Angélica; Jara, Lilian; De Barbieri, Zulema; Carvajal-Carmona, Luis G; Cazier, Jean-Baptiste; Newbury, Dianne F.

In: Frontiers in Genetics, Vol. 11, 669, 26.06.2020.

Research output: Contribution to journalArticlepeer-review

Harvard

Mountford, HS, Villanueva, P, Fernández, MA, Jara, L, De Barbieri, Z, Carvajal-Carmona, LG, Cazier, J-B & Newbury, DF 2020, 'The Genetic Population Structure of Robinson Crusoe Island, Chile', Frontiers in Genetics, vol. 11, 669. https://doi.org/10.3389/fgene.2020.00669

APA

Mountford, H. S., Villanueva, P., Fernández, M. A., Jara, L., De Barbieri, Z., Carvajal-Carmona, L. G., Cazier, J-B., & Newbury, D. F. (2020). The Genetic Population Structure of Robinson Crusoe Island, Chile. Frontiers in Genetics, 11, [669]. https://doi.org/10.3389/fgene.2020.00669

Vancouver

Mountford HS, Villanueva P, Fernández MA, Jara L, De Barbieri Z, Carvajal-Carmona LG et al. The Genetic Population Structure of Robinson Crusoe Island, Chile. Frontiers in Genetics. 2020 Jun 26;11. 669. https://doi.org/10.3389/fgene.2020.00669

Author

Mountford, Hayley S ; Villanueva, Pía ; Fernández, María Angélica ; Jara, Lilian ; De Barbieri, Zulema ; Carvajal-Carmona, Luis G ; Cazier, Jean-Baptiste ; Newbury, Dianne F. / The Genetic Population Structure of Robinson Crusoe Island, Chile. In: Frontiers in Genetics. 2020 ; Vol. 11.

Bibtex

@article{d930167a0d764d7983d1d4f6d72c11b1,
title = "The Genetic Population Structure of Robinson Crusoe Island, Chile",
abstract = "Studies examining genetic conditions common in Latin America are highly underrepresented in the scientific literature. Understanding of the population structure is limited, particularly Chile, in part due to the lack of available population specific data. An important first-step in elucidating disease mechanisms in Latin America countries is to understand the genetic structure of isolated populations. Robinson Crusoe Island (RCI) is a small land mass off the coast of Chile. The current population of over 900 inhabitants are primarily descended from a small number of founders who colonized the island in the late 1800s. Extensive genealogical records can trace the ancestry of almost the entire population. We perform a comprehensive genetic analysis to investigate the ancestry of the island population, examining ancestral mitochondrial and Y chromosome haplogroups, as well as autosomal admixture. Mitochondrial and Y chromosome haplogroups indicated a substantial European genetic contribution to the current RCI population. Analysis of the mitochondrial haplogroups found in the present-day population revealed that 79.1% of islanders carried European haplogroups, compared to 60.0% of the mainland Chilean controls from Santiago. Both groups showed a substantially lower contribution of indigenous haplogroups than expected. Analysis of the Y chromosome haplogroups also showed predominantly European haplogroups detected in 92.3% of male islanders and 86.7% of mainland Chilean controls. Using the near-complete genealogical data collected from the RCI population, we successfully inferred the ancestral haplogroups of 16/23 founder individuals, revealing genetic ancestry from Northern and Southern Europe. As mitochondrial and Y investigations only provide information for direct maternal and paternal lineages, we expanded this to investigate genetic admixture using the autosomes. Admixture analysis identified substantial indigenous genetic admixture in the RCI population (46.9%), higher than that found in the Santiago mainland Chilean controls (43.4%), but lower than a more representative Chilean population (Chile_GRU) (49.1%). Our study revealed the Robinson Crusoe Island population show a substantial genetic contribution for indigenous Chileans, similar to the level reported in mainland Chileans. However, direct maternal and paternal haplogroup analysis revealed strong European genetic contributions consistent with the history of the Island.",
keywords = "Robinson Crusoe Island, population genetics, admixture, Chile, Latin America",
author = "Mountford, {Hayley S} and P{\'i}a Villanueva and Fern{\'a}ndez, {Mar{\'i}a Ang{\'e}lica} and Lilian Jara and {De Barbieri}, Zulema and Carvajal-Carmona, {Luis G} and Jean-Baptiste Cazier and Newbury, {Dianne F}",
note = "Copyright {\textcopyright} 2020 Mountford, Villanueva, Fern{\'a}ndez, Jara, De Barbieri, Carvajal-Carmona, Cazier and Newbury.",
year = "2020",
month = jun,
day = "26",
doi = "10.3389/fgene.2020.00669",
language = "English",
volume = "11",
journal = "Frontiers in Genetics",
issn = "1664-8021",
publisher = "Frontiers Media S.A.",

}

RIS

TY - JOUR

T1 - The Genetic Population Structure of Robinson Crusoe Island, Chile

AU - Mountford, Hayley S

AU - Villanueva, Pía

AU - Fernández, María Angélica

AU - Jara, Lilian

AU - De Barbieri, Zulema

AU - Carvajal-Carmona, Luis G

AU - Cazier, Jean-Baptiste

AU - Newbury, Dianne F

N1 - Copyright © 2020 Mountford, Villanueva, Fernández, Jara, De Barbieri, Carvajal-Carmona, Cazier and Newbury.

PY - 2020/6/26

Y1 - 2020/6/26

N2 - Studies examining genetic conditions common in Latin America are highly underrepresented in the scientific literature. Understanding of the population structure is limited, particularly Chile, in part due to the lack of available population specific data. An important first-step in elucidating disease mechanisms in Latin America countries is to understand the genetic structure of isolated populations. Robinson Crusoe Island (RCI) is a small land mass off the coast of Chile. The current population of over 900 inhabitants are primarily descended from a small number of founders who colonized the island in the late 1800s. Extensive genealogical records can trace the ancestry of almost the entire population. We perform a comprehensive genetic analysis to investigate the ancestry of the island population, examining ancestral mitochondrial and Y chromosome haplogroups, as well as autosomal admixture. Mitochondrial and Y chromosome haplogroups indicated a substantial European genetic contribution to the current RCI population. Analysis of the mitochondrial haplogroups found in the present-day population revealed that 79.1% of islanders carried European haplogroups, compared to 60.0% of the mainland Chilean controls from Santiago. Both groups showed a substantially lower contribution of indigenous haplogroups than expected. Analysis of the Y chromosome haplogroups also showed predominantly European haplogroups detected in 92.3% of male islanders and 86.7% of mainland Chilean controls. Using the near-complete genealogical data collected from the RCI population, we successfully inferred the ancestral haplogroups of 16/23 founder individuals, revealing genetic ancestry from Northern and Southern Europe. As mitochondrial and Y investigations only provide information for direct maternal and paternal lineages, we expanded this to investigate genetic admixture using the autosomes. Admixture analysis identified substantial indigenous genetic admixture in the RCI population (46.9%), higher than that found in the Santiago mainland Chilean controls (43.4%), but lower than a more representative Chilean population (Chile_GRU) (49.1%). Our study revealed the Robinson Crusoe Island population show a substantial genetic contribution for indigenous Chileans, similar to the level reported in mainland Chileans. However, direct maternal and paternal haplogroup analysis revealed strong European genetic contributions consistent with the history of the Island.

AB - Studies examining genetic conditions common in Latin America are highly underrepresented in the scientific literature. Understanding of the population structure is limited, particularly Chile, in part due to the lack of available population specific data. An important first-step in elucidating disease mechanisms in Latin America countries is to understand the genetic structure of isolated populations. Robinson Crusoe Island (RCI) is a small land mass off the coast of Chile. The current population of over 900 inhabitants are primarily descended from a small number of founders who colonized the island in the late 1800s. Extensive genealogical records can trace the ancestry of almost the entire population. We perform a comprehensive genetic analysis to investigate the ancestry of the island population, examining ancestral mitochondrial and Y chromosome haplogroups, as well as autosomal admixture. Mitochondrial and Y chromosome haplogroups indicated a substantial European genetic contribution to the current RCI population. Analysis of the mitochondrial haplogroups found in the present-day population revealed that 79.1% of islanders carried European haplogroups, compared to 60.0% of the mainland Chilean controls from Santiago. Both groups showed a substantially lower contribution of indigenous haplogroups than expected. Analysis of the Y chromosome haplogroups also showed predominantly European haplogroups detected in 92.3% of male islanders and 86.7% of mainland Chilean controls. Using the near-complete genealogical data collected from the RCI population, we successfully inferred the ancestral haplogroups of 16/23 founder individuals, revealing genetic ancestry from Northern and Southern Europe. As mitochondrial and Y investigations only provide information for direct maternal and paternal lineages, we expanded this to investigate genetic admixture using the autosomes. Admixture analysis identified substantial indigenous genetic admixture in the RCI population (46.9%), higher than that found in the Santiago mainland Chilean controls (43.4%), but lower than a more representative Chilean population (Chile_GRU) (49.1%). Our study revealed the Robinson Crusoe Island population show a substantial genetic contribution for indigenous Chileans, similar to the level reported in mainland Chileans. However, direct maternal and paternal haplogroup analysis revealed strong European genetic contributions consistent with the history of the Island.

KW - Robinson Crusoe Island

KW - population genetics

KW - admixture

KW - Chile

KW - Latin America

U2 - 10.3389/fgene.2020.00669

DO - 10.3389/fgene.2020.00669

M3 - Article

C2 - 32676101

VL - 11

JO - Frontiers in Genetics

JF - Frontiers in Genetics

SN - 1664-8021

M1 - 669

ER -