Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population.

Sajantila, Antti; Salem, Abdel Halim; Savolainen, Peter; Bauer, K. L.; Gierig, Christian; Pääbo, Svante

doi:10.1073/pnas.93.21.12035

Cited by 176 publications

(130 citation statements)

References 24 publications

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“…As expected, the allele spectrum of the pseudoautosomal marker (sDF1) in Y chromosomes was narrower than in X chromosomes, reflecting a founder effect. 19 The analysis also showed female overrepresentation among the patients (67%). These potential confounding factors are avoided when solely maternal transmission to affected daughters is considered (Table 1).…”

Section: Il9r Region In Asthmamentioning

confidence: 98%

The IL9R region contribution in asthma is supported by genetic association in an isolated population

et al. 2000

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Interleukin 9 (IL9) is involved in mast cell maturation and the enhancement of IgE production by B cells. Furthermore, linkage data in human and mice have suggested that IL9 may contribute to asthma. Since our genetic analysis of the 5q cytokine cluster did not support a genetic role for the IL9 gene, we became interested in the IL9 receptor gene (IL9R) in the pseudoautosomal region. We genotyped markers sDF2 and sDF1 close to the IL9R gene among 289 affected and 368 family-based controls. The results were studied by using linkage, transmission disequilibrium, association and homozygosity analyses. Linkage analyses remained negative, presumably because of our low power for linkage study. However, all the other analyses yielded evidence that the IL9R gene region may have a role in the development of asthma. The sDF2*10 allele was more frequently transmitted than untransmitted to asthmatic offspring (34 vs 16, P 2 ≤ 0.01), and it was found homozygotic among asthma patients more often than expected (P simul2 = 0.009). Also, a specific X chromosomal haplotype, sDF2*10-sDF1*6 associated with asthma (40 vs 7, P 2 < 0.005, P simul1 = 0.04).

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Section: Il9r Region In Asthmamentioning

confidence: 98%

The IL9R region contribution in asthma is supported by genetic association in an isolated population

et al. 2000

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“…In addition to samples typed by the authors for this study, the following previously published mtDNA HVS1 sequences were used: 398 Icelanders (Helgason et al, 2000b), 551 Icelanders (Helgason et al, 2003), 39 Icelanders (Sajantila et al, 1995), 78 Orkney Islanders (Helgason et al, 2001), 664 inland Scots (Helgason et al, 2001), 216 northwestern coastal Scots (Helgason et al, 2001), 226 inhabitants from the Western Isles and the Isle of Skye (Helgason et al, 2001), 105 Irish (Richards et al, 2000), 216 Norwegians (Opdal et al, 1998), 324 Norwegians (Helgason et al, 2001), 74 Norwegians (Passarino et al, 2002), 28 Swedes (Kittles et al, 1999) and 32 Swedes (Sajantila et al, 1996). The following previously published Y-chromosome haplotypes were also used: 181 Icelanders (Helgason et al, 2000a), 12 Danes (Helgason et al, 2000a), 221 Irish (Helgason et al, 2000a), one Irish (Hurles et al, 1999), 110 Norwegians (Helgason et al, 2000a), two Norwegians (Hurles et al, 1999), 78 Norwegians (Wilson et al, 2001), 71 Orkney Islanders (Wilson et al, 2001) and 109 Swedes (Zerjal et al, 2001).…”

Section: Methodsmentioning

confidence: 99%

Genetic evidence for a family-based Scandinavian settlement of Shetland and Orkney during the Viking periods

et al. 2005

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The Viking age witnessed the expansion of Scandinavian invaders across much of northwestern Europe. While Scandinavian settlements had an enduring cultural impact on North Atlantic populations, the nature and extent of their genetic legacy in places such as Shetland and Orkney is not clear. In order to explore this question further, we have made an extensive survey of both Y-chromosomal and mitochondrial DNA (mtDNA) variation in the North Atlantic region. Our findings indicate an overall Scandinavian ancestry of E44% for Shetland and E30% for Orkney, with approximately equal contributions from Scandinavian male and female subjects in both cases. This contrasts with the situation for the Western Isles, where the overall Scandinavian ancestry is less (E15%) and where there is a disproportionately high contribution from Scandinavian males. In line with previous studies, we find that Iceland exhibits both the greatest overall amount of Scandinavian ancestry (55%) and the greatest discrepancy between Scandinavian male and female components. Our results suggest that while areas close to Scandinavia, such as Orkney and Shetland, may have been settled primarily by Scandinavian family groups, lone Scandinavian males, who later established families with female subjects from the British Isles, may have been prominent in areas more distant from their homeland. Heredity (2005) 95, 129-135.

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“…The European populations were analyzed by a modified version of the paleo-climatological model of Gamble (1986Gamble ( , 1999, as described elsewhere (Richards et al 1998a): southeastern Europe-141 Bulgarians, including 30 from the study by Calafell et al (1996), and 92 Romanians from Maramureş (65) and Vrancea (27); eastern Mediterranean-65 Greeks from Thessaloniki, 60 Sarakatsani from northern Greece, and 42 Albanians (Belledi et al 2000); central Mediterranean-49 Italians from Tuscany Torroni et al 1998) and 48 from Rome, 90 Sicilians (42 from Troina and 48 from Trapani), and 115 Sardinians, including 69 from the study by Di Rienzo and Wilson (1991); western Mediterranean-54 Portuguese (Cô rte-Real et al 1996), 71 Spaniards (Cô rte-Real et al 1996, 92 Galicians (Salas et al 1998) (156 Basques from northern Spain, including those from the studies by Bertranpetit et al [1995] and Cô rte-Real et al [1996], were treated separately); Alps-70 Swiss (Pult et al 1994), 49 South Germans from Bavaria , and 99 Austrians (Parson et al 1998); north-central Europe-37 Poles, 83 Czechs, 174 Germans Hofmann et al 1997), and 38 Danes, including 33 from the study by Richards et al (1996); Scandinavia-32 Swedes (Sajantila et al 1996), 231 Norwegians, including 215 from the study by Opdal et al (1998), and 53 Icelanders (Sajantila et al 1995;Richards et al 1996); northwestern Europe-71 French, comprising 47 from northeastern France and 24 from the CEPH database, 100 British (Piercy et al 1993), 92 individuals from Cornwall, including 69 from the study by Richards et al (1996), 92 individuals from Wales , and 101 individuals from western Ireland; northeastern Europe-25 Russians from the northern Caucasus, 36 Chuvash from Chuvashia (Russia), 163 Finns and Karelians, including 133 from the study by Sajantila et al (1995) and 29 from the study by Richards et al (1996), 149 Estonians, including 28 from the study by Sajantila et al (1995) and 20 from the study by Sajantila et al (1996), and 34 Volga-Finns (Sajantila et al 1995)…”

Section: Subjectsmentioning

confidence: 99%

Tracing European Founder Lineages in the Near Eastern mtDNA Pool

Richards¹,

Macaulay²,

Hickey³

et al. 2000

Am. J Hum. Genet.

358

548

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Founder analysis is a method for analysis of nonrecombining DNA sequence data, with the aim of identification and dating of migrations into new territory. The method picks out founder sequence types in potential source populations and dates lineage clusters deriving from them in the settlement zone of interest. Here, using mtDNA, we apply the approach to the colonization of Europe, to estimate the proportion of modern lineages whose ancestors arrived during each major phase of settlement. To estimate the Palaeolithic and Neolithic contributions to European mtDNA diversity more accurately than was previously achievable, we have now extended the Near Eastern, European, and northern-Caucasus databases to 1,234, 2,804, and 208 samples, respectively. Both back-migration into the source population and recurrent mutation in the source and derived populations represent major obstacles to this approach. We have developed phylogenetic criteria to take account of both these factors, and we suggest a way to account for multiple dispersals of common sequence types. We conclude that (i) there has been substantial back-migration into the Near East, (ii) the majority of extant mtDNA lineages entered Europe in several waves during the Upper Palaeolithic, (iii) there was a founder effect or bottleneck associated with the Last Glacial Maximum, 20,000 years ago, from which derives the largest fraction of surviving lineages, and (iv) the immigrant Neolithic component is likely to comprise less than one-quarter of the mtDNA pool of modern Europeans.

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Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population.

Cited by 176 publications

References 24 publications

The IL9R region contribution in asthma is supported by genetic association in an isolated population

The IL9R region contribution in asthma is supported by genetic association in an isolated population

Genetic evidence for a family-based Scandinavian settlement of Shetland and Orkney during the Viking periods

Tracing European Founder Lineages in the Near Eastern mtDNA Pool

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