Detecting genetic isolation in human populations: a study of European language minorities.

The identification of isolation signatures is fundamental to better understand the genetic structure of human populations and to test the relations between cultural factors and genetic variation. However, with current approaches, it is not possible to distinguish between the consequences of long-ter...

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Autores principales:	Marco Capocasa, Cinzia Battaggia, Paolo Anagnostou, Francesco Montinaro, Ilaria Boschi, Gianmarco Ferri, Milena Alù, Valentina Coia, Federica Crivellaro, Giovanni Destro Bisol
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/cd11a54252e14693956d6d2d5f3cd2dd
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spelling	oai:doaj.org-article:cd11a54252e14693956d6d2d5f3cd2dd2021-11-18T07:57:38ZDetecting genetic isolation in human populations: a study of European language minorities.1932-620310.1371/journal.pone.0056371https://doaj.org/article/cd11a54252e14693956d6d2d5f3cd2dd2013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23418562/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203The identification of isolation signatures is fundamental to better understand the genetic structure of human populations and to test the relations between cultural factors and genetic variation. However, with current approaches, it is not possible to distinguish between the consequences of long-term isolation and the effects of reduced sample size, selection and differential gene flow. To overcome these limitations, we have integrated the analysis of classical genetic diversity measures with a bayesian method to estimate gene flow and have carried out simulations based on the coalescent. Combining these approaches, we first tested whether the relatively short history of cultural and geographical isolation of four "linguistic islands" of the Eastern Alps (Lessinia, Sauris, Sappada and Timau) had left detectable signatures in their genetic structure. We then compared our findings to previous studies of European population isolates. Finally, we explored the importance of demographic and cultural factors in shaping genetic diversity among the groups under study. A combination of small initial effective size and continued genetic isolation from surrounding populations seems to provide a coherent explanation for the diversity observed among Sauris, Sappada and Timau, which was found to be substantially greater than in other groups of European isolated populations. Simulations of micro-evolutionary scenarios indicate that ethnicity might have been important in increasing genetic diversity among these culturally related and spatially close populations.Marco CapocasaCinzia BattaggiaPaolo AnagnostouFrancesco MontinaroIlaria BoschiGianmarco FerriMilena AlùValentina CoiaFederica CrivellaroGiovanni Destro BisolPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 2, p e56371 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Marco Capocasa Cinzia Battaggia Paolo Anagnostou Francesco Montinaro Ilaria Boschi Gianmarco Ferri Milena Alù Valentina Coia Federica Crivellaro Giovanni Destro Bisol Detecting genetic isolation in human populations: a study of European language minorities.
description	The identification of isolation signatures is fundamental to better understand the genetic structure of human populations and to test the relations between cultural factors and genetic variation. However, with current approaches, it is not possible to distinguish between the consequences of long-term isolation and the effects of reduced sample size, selection and differential gene flow. To overcome these limitations, we have integrated the analysis of classical genetic diversity measures with a bayesian method to estimate gene flow and have carried out simulations based on the coalescent. Combining these approaches, we first tested whether the relatively short history of cultural and geographical isolation of four "linguistic islands" of the Eastern Alps (Lessinia, Sauris, Sappada and Timau) had left detectable signatures in their genetic structure. We then compared our findings to previous studies of European population isolates. Finally, we explored the importance of demographic and cultural factors in shaping genetic diversity among the groups under study. A combination of small initial effective size and continued genetic isolation from surrounding populations seems to provide a coherent explanation for the diversity observed among Sauris, Sappada and Timau, which was found to be substantially greater than in other groups of European isolated populations. Simulations of micro-evolutionary scenarios indicate that ethnicity might have been important in increasing genetic diversity among these culturally related and spatially close populations.
format	article
author	Marco Capocasa Cinzia Battaggia Paolo Anagnostou Francesco Montinaro Ilaria Boschi Gianmarco Ferri Milena Alù Valentina Coia Federica Crivellaro Giovanni Destro Bisol
author_facet	Marco Capocasa Cinzia Battaggia Paolo Anagnostou Francesco Montinaro Ilaria Boschi Gianmarco Ferri Milena Alù Valentina Coia Federica Crivellaro Giovanni Destro Bisol
author_sort	Marco Capocasa
title	Detecting genetic isolation in human populations: a study of European language minorities.
title_short	Detecting genetic isolation in human populations: a study of European language minorities.
title_full	Detecting genetic isolation in human populations: a study of European language minorities.
title_fullStr	Detecting genetic isolation in human populations: a study of European language minorities.
title_full_unstemmed	Detecting genetic isolation in human populations: a study of European language minorities.
title_sort	detecting genetic isolation in human populations: a study of european language minorities.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/cd11a54252e14693956d6d2d5f3cd2dd
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Detecting genetic isolation in human populations: a study of European language minorities.

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