Abstract
We have studied the matrilineal genetic composition of the Madeira and Açores north Atlantic archipelagos, which were settled by the Portuguese in the 15th century. Both archipelagos, and particularly Madeira, were involved in a complex commercial network established by the Portuguese, which included the trading of slaves across the Atlantic. One hundred and fifty-five mtDNAs sampled from the Madeira and 179 from the Açores archipelagos were analysed for the hypervariable segment I (HVS-I), and for haplogroup-diagnostic coding-region RFLPs. The different settlement histories of both groups of islands are well reflected in their present day mtDNA pool. Although both archipelagos show identical diversity values, they are clearly different in their haplogroup content. Madeira displays a stronger sub-Saharan imprint, with haplogroups L1–L3 constituting about 13% of the lineages. Also, the relative frequencies of L sub-clusters in Madeira and mainland Portugal suggests that, at least in part, African presence in Madeira can be attributed to a direct gene flow from West Africa and not via Portugal. A comparison of the genetic composition of these two archipelagos with the Canary Islands, specially taking into account that their European source population was essentially from the Iberian Peninsula, testifies the stronger impact of the North African U6 cluster in the Canaries. This group is present in Madeira at a moderate frequency, but very reduced in the Açores. Nevertheless the recorded introduction of Canary native Guanches, who are characterized by the presence of particular sub-clade U6b1, has left no detectable imprints in the present day population of Madeira.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Anderson S, Bankier AT, Barrel BG, De Bruijn MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young G (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457–465
Bendall KE, Sykes BC (1995) Length heteroplasmy in the first hypervariable segment of the human mtDNA control region. Am J Hum Genet 57:248–256
Brehm A, Pereira L, Bandelt H-J, Prata MJ, Amorim A (2002) Mitochondrial portrait of the Cabo Verde archipelago: the Senegambian outpost of Atlantic slave trade. Ann Hum Genet 66:49–60
Carreira A (1983) Migrações nas ilhas de Cabo Verde, 2nd edn. Instituto Caboverdeano do Livro, Lisboa.
Côrte-Real HBSM, Macaulay VA, Richards MB, Hariti G, Isaad MS, Cambon-Thomsen A, Papiha S, Bertranpetit J, Sykes BC (1996) Genetic diversity in the Iberian Peninsula determined from mitochondrial sequences analysis. Ann Hum Genet 60:331–350
Fernandes A, Velosa R, Jesus J, Carracedo A, Brehm A (2003) Genetic differentiation of the Cabo Verde Archipelago population analysed by STR polymorphisms. Ann Hum Genet 67:340–347
Finnilä S, Hassinen I, Ala-Kokko A, Majamaa K (2000) Phylogenetic network of the mtDNA Haplogroup U in northern Finland based on sequence analysis of the complete coding region by conformation-sensitive gel electrophoresis. Am J Hum Genet 66:1017–1026
Frutuoso G (1977) Saudades da Terra, (written in 1580–1591) Livro IV, vol I. Instituto Cultural de Ponta Delgada, Ponta Delgada
Godinho VM (1965) Os Descobrimentos e a Economia Mundial, vol 1, 2. Arcádia, Lisboa
González AM, Brehm A, Pérez J, Maca-Meyer N, Flores C, Cabrera V (2003) Mitochondrial DNA affinities at the Atlantic fringe of Europe. Am J Phys Anthropol 120:391–404
Long JC (1991) The genetic structure of admixed populations. Genetics 142:417–428
Mendonça L (1996) História dos Açores. Visão Geral (séc. XV-XIX). Centro de Apoio Tecnológico à Educação, Ponta Delgada
Pereira ECN (1989) Ilhas de Zarco, 4th edn, vol II. Câmara Municipal Funchal, Funchal
Pereira L, Prata MJ, Amorim A (2000) Diversity of mtDNA lineages in Portugal: not a genetic edge of European variation. Ann Hum Genet 64:491–506
Rando JC, Pinto F, González AM, Hernández M, Larruga JM, Cabrera VM, Bandelt H-J (1998) Mitochondrial DNA analysis of Northwest African populations reveals genetic exchanges with European, Near-Eastern, and sub-Saharan populations. Ann Hum Genet 62:531–550
Rando JC, Cabrera VM, Larruga JM, Hernández M, González AM, Pinto F, Bandelt H-J (1999) Phylogeographic patterns of mtDNA reflecting the colonization of the Canary Islands. Ann Hum Genet 63:413–428
Richards M, Macaulay V, Hickey E, Vega E, Sykes B, Guida V, Rengo C, Sellitto D, Cruciani F, Kivisild T, Villems R, Thomas M, Rychkov S, Rychkov O, Rychkov Y, Gölge M, Dimitrov D, Hill E, Bradley D, Romano V, Calì F, Vona G, Demaine A, Papiha S, Triantaphyllidis C, Stefanescu G, Hatina J, Belledi M, Di Rienzo A, Novelletto A, Oppenheim A, Nørby S, Al-Zaheri N, Santachiara-Benerecetti S, Torroni A, Bandelt H-J (2000) Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 67:1251–1276
Russell-Wood AJ (1998) The Portuguese empire, 1415–1808. A world on the move. Johns Hopkins University Press, Baltimore
Salas A, Comas D, Lareu MV, Bertranpetit J, Carracedo A (1998) mtDNA analysis of the Galician population: a genetic edge of European variation. Eur J Hum Genet 6:365–375
Salas A, Richards M, De la Fé T, Lareu M-V, Sobrino B, Sánchez-Diz P, Macaulay V, Carracedo A (2002) The making of the African mtDNA landscape. Am J Hum Genet 71:1082–1111
Spínola H, Brehm A, Williams F, Jesus J, Middleton D (2002) Distribution of HLA alleles in Portugal and Cabo Verde. Relationships with the slave trade route. Ann Hum Genet 66:285–296
Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R, Obinu D, Savontaus ML, Wallace DC (1996) Classification of European mtDNAs from an analysis of three European populations. Genetics 144:1835–1850
Torroni A, Bandelt HJ, Macaulay V, Richards M, Cruciani F, Rengo C, Martinez-Cabrera V, Villems R, Kivisild T, Metspalu E, Parik J, Tolk HV, Tambets K, Forster P, Karger B, Francalacci P, Rudan P, Janicijevic B, Rickards O, Savontaus ML, Huoponen K, Laitinen V, Koivumaki S, Sykes B, Hickey E, Novelletto A, Moral P, Sellitto D, Coppa A, Al-Zaheri N, Santachiara-Benerecetti AS, Semino O, Scozzari R (2001) A signal, from human mtDNA, of postglacial recolonization in Europe. Am J Hum Genet 69:844–852
Vigilant L, Pennington R, Harpending H, Kocher TD, Wilson AC (1989) Mitochondrial DNA sequences in single hairs from a southern African population. Proc Natl Acad Sci USA 86:9350–9354
Acknowledgements
The authors are grateful for the precious help of the Portuguese Army Chief of Staff. Dr José Jesus provided analytical help. L.P. was supported by a grant from Fundação para a Ciência e a Tecnologia (SFRH/BDP/7121/2001). Programa Operacional Ciência, Tecnologia e Inovação (POCTI), Quadro Comunitário de Apoio III, supports IPATIMUP.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Brehm, A., Pereira, L., Kivisild, T. et al. Mitochondrial portraits of the Madeira and Açores archipelagos witness different genetic pools of its settlers. Hum Genet 114, 77–86 (2003). https://doi.org/10.1007/s00439-003-1024-3
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00439-003-1024-3