Mitochondrial portraits of the Madeira and A�ores archipelagos witness different genetic pools of its settlers

Brehm, António; Pereira, Luı́sa; Kivisild, Toomas; Amorim, António

doi:10.1007/s00439-003-1024-3

Cited by 32 publications

(25 citation statements)

References 17 publications

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“…1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 7 The low C282Y allele frequency found in Madeira Island is consistent with the northsouth decreasing cline that has been found in European countries and even in mainland Portugal [131,2320]. This result could be also related to the genetic background that is in the basis of the origin of the Madeira population, which, besides Portugal, includes an important influence from sub-Saharan populations [2017]. The high H63D allele prevalence in Madeira is also consistent with the frequencies found in the South of Europe and especially in the Iberia Peninsula.…”

Section: Resultssupporting

confidence: 55%

Prevalence of H63D, S65C, and C282Y hereditary hemochromatosis gene variants in Madeira Island (Portugal)

2010

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Hereditary HFE Hemochromatosis is an inherited disorder of iron metabolism that result from mutations in the HFE gene. Almost all patients with Hereditary Hemochromatosis show a C282Y mutation in homozygosity or in compound heterozygosity with H63D. Also, the mutation S65C has been shown to be associated to a milder iron overload. Since allele and genotype frequencies of these three variants of the HFE gene vary between populations, the determination of their prevalence in Madeira Island will clarify the population susceptibility to Hereditary Hemochromatosis. One hundred and fifty four samples from Madeira Island were genotyped for the three most common HFE gene mutations, H63D, C282Y and S65C, by Polymerase Chain Reaction followed by Restriction Fragment Length Polymorphism analysis. Results have shown a prevalence of 20.5%, 0.33% and 1% for H63D, C282Y and S65C, respectively. Accordingly to our estimates, both genotypes associated to Hereditary Hemochromatosis, C282Y homozygotes and C282/H63D compound heterozygotes, could be present in Madeira Island population in 1,648 individuals, which represents 0.65% of the total population.Response to Reviewers: . In this revised version we included the four references recommended by reviewers: Reviewer #1: The introduction to a large extent repeats well known facts about HFE hemochromatosis and should be shortened at least by 3/4 page. Authors: we shortened the introduction.Reviewer #1: There are several spelling errors. Authors: We made a spelling revision.Reviewer #1: In recent years, Annals of Hematology has published many papers on HFE haemochromatosis, among others by the authors Remacha AF, Pedersen P, Milman N, ect. I strongly suggest the authors make a screening on PubMed to identify these AOH papers and include them in the reference list. Authors: We added a paper from Remacha published in Annals of Hematology.

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Section: Resultssupporting

confidence: 55%

Prevalence of H63D, S65C, and C282Y hereditary hemochromatosis gene variants in Madeira Island (Portugal)

2010

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“…At archipelago level, the number of different haplotypes found in the Azores (59) and the Canary Islands (178) are 49.2% and 35.4%, respectively, of the total sample analyzed in this work, and 46.6% and 62.9% of these were not detected in previous screenings (Rando et al, 1999;Brehm et al, 2003;Santos et al, 2003). However, at island level, the mean number of different haplotypes was 62.5% 6 4.3% in the Azores and 55.2% 6 2.6% in the Canary Islands.…”

Section: Results and Discussion Interarchipelago And Mainland Relatiomentioning

confidence: 71%

“…Mitochondrial DNA (mtDNA) variation in each of the Macaronesia archipelagos has been described by various groups of researchers (Rando et al, 1999;Brehm et al, 2002Brehm et al, , 2003Santos et al, 2003Santos et al, , 2006. However, no integrative work on the genetic relationship between the four archipelagos, to determine whether the political and commercial contacts between archipelagos have a significant impact on the genetic composition of the islands, has been carried out.…”

mentioning

confidence: 98%

Mitochondrial DNA patterns in the Macaronesia islands: Variation within and among archipelagos

Santos

Fregel

Cabrera

et al. 2009

American J Phys Anthropol

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Macaronesia covers four Atlantic archipelagos: the Azores, Madeira, the Canary Islands, and the Cape Verde islands. When discovered by Europeans in the 15th century, only the Canaries were inhabited. Historical reports highlight the impact of Iberians on settlement in Macaronesia. Although important differences in their settlement are documented, its influence on their genetic structures and relationships has yet to be ascertained. In this study, the hypervariable region I (HVRI) sequence and coding region polymorphisms of mitochondrial DNA (mtDNA) in 623 individuals from the Azores (120) and Canary Islands (503) were analyzed. Combined with published data, these give a total of 1,542 haplotypes from Macaronesia and 1,067 from the Iberian Peninsula. The results obtained indicate that Cape Verde is the most distinctive archipelago, with an mtDNA pool composed almost exclusively of African lineages. However, the other archipelagos present an mtDNA profile dominated by the presence of West-Eurasian mtDNA haplogroups with African lineages present in varying proportions. Moreover, no signs of integration of typical Canarian U6 lineages in the other archipelagos were detected. The four Macaronesia archipelagos currently have differentiated genetic profiles, and the Azores present the highest intra-archipelago differentiation and the lowest values of diversity. The analyses performed show that the present-day genetic profile of the Macaronesian archipelagos was mainly determined by the initial process of settlement and further microdifferentiation probably as a consequence of the small population size of some islands. Moreover, contacts between archipelagos seem to have had a low impact on the mtDNA genetic pool of each archipelago.

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“…These included populations from three presumed source areas-the British Isles, West Africa, and the eastern United States (Richards et al, 1996(Richards et al, , 1998Bolnick and Smith, 2003;Salas et al, 2004)-as well as others from Portugal, the Azores and Madeira (Pereira et al, 2000;Brehm et al, 2003). In addition, we compared the Bermudian mtDNA data to those from four former British and non-British colonies in the Caribbean, African American populations from the eastern United States, the Seaconke Wampanoag Tribe of Massachusetts, and Brazilian populations (Alves-Silva et al, 2000;Gonzalez et al, 2003;Benn-Torres et al, 2007;Hü nemeier et al, 2007;Mendizabal et al, 2008;Stefflova et al, 2009;Zhadanov et al, 2010).…”

Section: Statistical and Phylogenetic Analysismentioning

confidence: 99%

Genetic ancestry and indigenous heritage in a Native American Descendant Community in Bermuda

Gaieski

Owings

Vilar

et al. 2011

American J Phys Anthropol

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Discovered in the early 16th century by European colonists, Bermuda is an isolated set of islands located in the mid-Atlantic. Shortly after its discovery, Bermuda became the first English colony to forcibly import its labor by trafficking in enslaved Africans, white ethnic minorities, and indigenous Americans. Oral traditions circulating today among contemporary tribes from the northeastern United States recount these same events, while, in Bermuda, St. David's Islanders consider their histories to be linked to a complex Native American, European, and African past. To investigate the influence of historical events on biological ancestry and native cultural identity, we analyzed genetic variation in 111 members of Bermuda's self-proclaimed St. David's Island Native Community. Our results reveal that the majority of mitochondrial DNA (mtDNA) and Y-chromosome haplotypes are of African and West Eurasian origin. However, unlike other English-speaking New World colonies, most African mtDNA haplotypes appear to derive from central and southeast Africa, reflecting the extent of maritime activities in the region. In light of genealogical and oral historical data from the St. David's community, the low frequency of Native American mtDNA and NRY lineages may reflect the influence of genetic drift, the demographic impact of European colonization, and historical admixture with persons of non-native backgrounds, which began with the settlement of the islands. By comparing the genetic data with genealogical and historical information, we are able to reconstruct the complex history of this Bermudian community, which is unique among New World populations.

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Mitochondrial portraits of the Madeira and A�ores archipelagos witness different genetic pools of its settlers

Cited by 32 publications

References 17 publications

Prevalence of H63D, S65C, and C282Y hereditary hemochromatosis gene variants in Madeira Island (Portugal)

Prevalence of H63D, S65C, and C282Y hereditary hemochromatosis gene variants in Madeira Island (Portugal)

Mitochondrial DNA patterns in the Macaronesia islands: Variation within and among archipelagos

Genetic ancestry and indigenous heritage in a Native American Descendant Community in Bermuda

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