NDLI: Sardinians Genetic Background Explained by Runs of Homozygosity and Genomic Regions under Positive Selection

Content Provider	PubMed Central
Author	Gaetano, Cornelia Di Fiorito, Giovanni Ortu, Maria Francesca Rosa, Fabio Guarrera, Simonetta Pardini, Barbara Cusi, Daniele Frau, Francesca Cristina, Barlassina Chiara, Troffa Argiolas, Giuseppe Roberta, Zaninello Fresu, Giovanni Glorioso, Nicola Piazza, Alberto Giuseppe, Matullo
Editor	Chaubey, Gyaneshwer
Copyright Year	2014
Abstract	The peculiar position of Sardinia in the Mediterranean sea has rendered its population an interesting biogeographical isolate. The aim of this study was to investigate the genetic population structure, as well as to estimate Runs of Homozygosity and regions under positive selection, using about 1.2 million single nucleotide polymorphisms genotyped in 1077 Sardinian individuals. Using four different methods - fixation index, inflation factor, principal component analysis and ancestry estimation - we were able to highlight, as expected for a genetic isolate, the high internal homogeneity of the island. Sardinians showed a higher percentage of genome covered by RoHs>0.5 Mb (FRoH%0.5) when compared to peninsular Italians, with the only exception of the area surrounding Alghero. We furthermore identified 9 genomic regions showing signs of positive selection and, we re-captured many previously inferred signals. Other regions harbor novel candidate genes for positive selection, like TMEM252, or regions containing long non coding RNA. With the present study we confirmed the high genetic homogeneity of Sardinia that may be explained by the shared ancestry combined with the action of evolutionary forces.
Related Links	http://dx.doi.org/10.1371/journal.pone.0091237
Starting Page	91237
File Format	PDF
ISSN	19326203
e-ISSN	19326203
Journal	PLoS ONE
Issue Number	3
Volume Number	9
Language	English
Publisher	Public Library of Science
Publisher Date	2014-03-01
Access Restriction	Open
Rights Holder	Public Library of Science
Subject Keyword	Biochemistry, Genetics and Molecular Biology(all) Agricultural and Biological Sciences(all) Medicine(all) Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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