Evaluating mtDNA patterns of genetic isolation using a re-sampling procedure: A case study on Italian populations
Background: A number of studies which have investigated isolation patterns in human populations rely on the analysis of intra- and inter-population genetic statistics of mtDNA polymorphisms. However, this approach makes it difficult to differentiate between the effects of long-term genetic isolation...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2017-02-01
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| Series: | Annals of Human Biology |
| Subjects: | |
| Online Access: | http://dx.doi.org/10.1080/03014460.2016.1181784 |
| _version_ | 1797685666043133952 |
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| author | Paolo Anagnostou Marco Capocasa Valentina Dominici Francesco Montinaro Valentina Coia Giovanni Destro-Bisol |
| author_facet | Paolo Anagnostou Marco Capocasa Valentina Dominici Francesco Montinaro Valentina Coia Giovanni Destro-Bisol |
| author_sort | Paolo Anagnostou |
| collection | DOAJ |
| description | Background: A number of studies which have investigated isolation patterns in human populations rely on the analysis of intra- and inter-population genetic statistics of mtDNA polymorphisms. However, this approach makes it difficult to differentiate between the effects of long-term genetic isolation and the random fluctuations of statistics due to reduced sample size. Aim: To overcome the confounding effect of sample size when detecting signatures of genetic isolation. Subjects and methods: A re-sampling based procedure was employed to evaluate reduction in intra-population diversity, departure from surrounding genetic background and demographic stationarity in 34 Italian populations subject to isolation factors. Results: Signatures of genetic isolation were detected for all three statistics in seven populations: Pusteria valley, Sappada, Sauris, Timau settled in the eastern Italian Alps and Cappadocia, Filettino and Vallepietra settled in the Appenines. However, this study was unable to find signals for any of the statistics analysed in 19 populations. Finally, eight populations showing signals of isolation were found for one or two statistics. Conclusion: The analysis revealed that the use of population genetic statistics combined with re-sampling procedure can help detect signatures of genetic isolation in human populations, even using a single, although highly informative, locus like mtDNA. |
| first_indexed | 2024-03-12T00:48:14Z |
| format | Article |
| id | doaj.art-7011e2bef0b540be8b6f9a31e168a2f9 |
| institution | Directory Open Access Journal |
| issn | 0301-4460 1464-5033 |
| language | English |
| last_indexed | 2024-03-12T00:48:14Z |
| publishDate | 2017-02-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Annals of Human Biology |
| spelling | doaj.art-7011e2bef0b540be8b6f9a31e168a2f92023-09-14T15:29:14ZengTaylor & Francis GroupAnnals of Human Biology0301-44601464-50332017-02-0144214014810.1080/03014460.2016.11817841181784Evaluating mtDNA patterns of genetic isolation using a re-sampling procedure: A case study on Italian populationsPaolo Anagnostou0Marco Capocasa1Valentina Dominici2Francesco Montinaro3Valentina Coia4Giovanni Destro-Bisol5Sapienza University of RomeIstituto Italiano di AntropologiaSapienza University of RomeUniversity of OxfordIstituto per le Mummie e l'Iceman, Accademia Europea di Bolzano (EURAC-Research)Sapienza University of RomeBackground: A number of studies which have investigated isolation patterns in human populations rely on the analysis of intra- and inter-population genetic statistics of mtDNA polymorphisms. However, this approach makes it difficult to differentiate between the effects of long-term genetic isolation and the random fluctuations of statistics due to reduced sample size. Aim: To overcome the confounding effect of sample size when detecting signatures of genetic isolation. Subjects and methods: A re-sampling based procedure was employed to evaluate reduction in intra-population diversity, departure from surrounding genetic background and demographic stationarity in 34 Italian populations subject to isolation factors. Results: Signatures of genetic isolation were detected for all three statistics in seven populations: Pusteria valley, Sappada, Sauris, Timau settled in the eastern Italian Alps and Cappadocia, Filettino and Vallepietra settled in the Appenines. However, this study was unable to find signals for any of the statistics analysed in 19 populations. Finally, eight populations showing signals of isolation were found for one or two statistics. Conclusion: The analysis revealed that the use of population genetic statistics combined with re-sampling procedure can help detect signatures of genetic isolation in human populations, even using a single, although highly informative, locus like mtDNA.http://dx.doi.org/10.1080/03014460.2016.1181784human isolatespopulation genetics statisticsmtdnaitalian populations |
| spellingShingle | Paolo Anagnostou Marco Capocasa Valentina Dominici Francesco Montinaro Valentina Coia Giovanni Destro-Bisol Evaluating mtDNA patterns of genetic isolation using a re-sampling procedure: A case study on Italian populations Annals of Human Biology human isolates population genetics statistics mtdna italian populations |
| title | Evaluating mtDNA patterns of genetic isolation using a re-sampling procedure: A case study on Italian populations |
| title_full | Evaluating mtDNA patterns of genetic isolation using a re-sampling procedure: A case study on Italian populations |
| title_fullStr | Evaluating mtDNA patterns of genetic isolation using a re-sampling procedure: A case study on Italian populations |
| title_full_unstemmed | Evaluating mtDNA patterns of genetic isolation using a re-sampling procedure: A case study on Italian populations |
| title_short | Evaluating mtDNA patterns of genetic isolation using a re-sampling procedure: A case study on Italian populations |
| title_sort | evaluating mtdna patterns of genetic isolation using a re sampling procedure a case study on italian populations |
| topic | human isolates population genetics statistics mtdna italian populations |
| url | http://dx.doi.org/10.1080/03014460.2016.1181784 |
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