Sardinians genetic background explained by runs of homozygosity and genomic regions under positive selection.
Sardinians genetic background explained by runs of homozygosity and genomic regions under positive selection.
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DOI：
10.1371/journal.pone.0091237
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发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Matullo G
中科院分区：
文献类型：
--
作者：
Di Gaetano C;Fiorito G;Ortu MF;Rosa F;Guarrera S;Pardini B;Cusi D;Frau F;Barlassina C;Troffa C;Argiolas G;Zaninello R;Fresu G;Glorioso N;Piazza A;Matullo G
撒丁岛在地中海的特殊位置使其人口成为一个有趣的生物地理隔离区。本研究的目的是利用对 1077 名撒丁岛个体进行基因分型的约 120 万个单核苷酸多态性来调查遗传群体结构，并估计纯合性运行和正选择区域。使用四种不同的方法——固定指数、膨胀因子、主成分分析和祖先估计——我们能够像对遗传分离株所预期的那样，强调该岛的高度内部同质性。与意大利半岛人相比，撒丁岛人的基因组被 RoHs>0.5 Mb (FRoH%0.5) 覆盖的比例更高，唯一的例外是阿尔盖罗周围地区。我们还鉴定了 9 个显示正选择迹象的基因组区域，并且我们重新捕获了许多先前推断的信号。其他区域包含用于正选择的新候选基因，例如 TMEM252，或包含长非编码 RNA 的区域。通过本研究，我们证实了撒丁岛的高度遗传同质性，这可以通过共同的祖先和进化力量的作用来解释。
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.
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影响因子：
3.7
作者：
López Herráez D;Bauchet M;Tang K;Theunert C;Pugach I;Li J;Nandineni MR;Gross A;Scholz M;Stoneking M
通讯作者：
Stoneking M
影响因子：
3.7
作者：
Kirin M;McQuillan R;Franklin CS;Campbell H;McKeigue PM;Wilson JF
通讯作者：
Wilson JF
影响因子：
1.9
作者：
Capelli, C;Redhead, N;Goldstein, DB
通讯作者：
Goldstein, DB
DOI：
10.1073/pnas.92.20.9171
发表时间：
1995-09-26
影响因子：
11.1
作者：
BARBUJANI, G;BERTORELLE, G;SCOZZARI, R
通讯作者：
SCOZZARI, R
HLA II 类单倍型的区域间分布表明撒丁岛人群适合复杂疾病的病例对照关联研究
影响因子：
3.5
作者：
Lampis, R;Morelli, L;Cucca, F
通讯作者：
Cucca, F