Human Genetics

, Volume 113, Issue 6, pp 467–472 | Cite as

Y-chromosome lineages in Cabo Verde Islands witness the diverse geographic origin of its first male settlers

  • Rita Gonçalves
  • Alexandra Rosa
  • Ana Freitas
  • Ana Fernandes
  • Toomas Kivisild
  • Richard Villems
  • António BrehmEmail author
Original Investigation


The Y-chromosome haplogroup composition of the population of the Cabo Verde Archipelago was profiled by using 32 single-nucleotide polymorphism markers and compared with potential source populations from Iberia, west Africa, and the Middle East. According to the traditional view, the major proportion of the founding population of Cabo Verde was of west African ancestry with the addition of a minor fraction of male colonizers from Europe. Unexpectedly, more than half of the paternal lineages (53.5%) of Cabo Verdeans clustered in haplogroups I, J, K, and R1, which are characteristic of populations of Europe and the Middle East, while being absent in the probable west African source population of Guiné-Bissau. Moreover, a high frequency of J* lineages in Cabo Verdeans relates them more closely to populations of the Middle East and probably provides the first genetic evidence of the legacy of the Jews. In addition, the considerable proportion (20.5%) of E3b(xM81) lineages indicates a possible gene flow from the Middle East or northeast Africa, which, at least partly, could be ascribed to the Sephardic Jews. In contrast to the predominance of west African mitochondrial DNA haplotypes in their maternal gene pool, the major west African Y-chromosome lineage E3a was observed only at a frequency of 15.9%. Overall, these results indicate that gene flow from multiple sources and various sex-specific patterns have been important in the formation of the genomic diversity in the Cabo Verde islands.


Canary Island West African Coast Male Colonizer West African Ancestry East African Population 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



We express our gratitude to the Chairmen of the Joint Chiefs of Staff from the Republic of Cabo Verde and from the Republic of Guiné-Bissau. We are also grateful to the Ministry of Public Health of Guiné-Bissau. We thank Dr. Peter A. Underhill, Dr. José Jesus, and two anonymous reviewers for useful suggestions and comments on earlier versions of the manuscript. The support of ICCTI (Ministry of Science, Lisbon) and the Regional Government of Madeira (SRE) to A.B. is acknowledged. R.G. has a research contract with the University of Madeira. A.F. is an FCT PhD student (contract SFRH/BD/8592/2002).


  1. Barry B (1998) Senegambia and the Atlantic slave trade. Cambridge University Press, CambridgeGoogle Scholar
  2. Bertorelle G, Dupanloup I (2001) Inferring admixture proportions from molecular data: extension to any number of parental populations. Mol Biol Evol 18:672–675PubMedGoogle Scholar
  3. Bertorelle G, Excoffier L (1998) Computing admixture coefficients from molecular data. Mol Biol Evol 15:1298–1311PubMedGoogle Scholar
  4. Bosch H, Calafell F, Comas D, Oefner P, Underhill P, Bertranpetit J (2001) High-resolution analysis of human Y-chromosome variation shows a sharp discontinuity and limited gene flow between northwestern Africa and the Iberian Peninsula. Am J Hum Genet 68:1019–1029Google Scholar
  5. Brehm A, Pereira L, Bandelt H-J, Prata M, Amorim A (2002) Mitochondrial portrait of the Cabo Verde archipelago: the Senegambian outpost of the Atlantic slave trade. Ann Hum Genet 66:49–60Google Scholar
  6. Carreira A (1983) Migrações nas ilhas de Cabo Verde, 2nd edn. Instituto Caboverdeano do Livro, LisboaGoogle Scholar
  7. Chakraborty R, Kamboh MI, Nwankwo M, Ferrell RE (1992) Caucasian genes in American Blacks: new data. Am J Hum Genet 50:145–155Google Scholar
  8. Cruciani F, Santalomazza P, Shen P, Macaulay V, Moral P, Olckers A, Modiano D, Holmes S, Destro-Bisol G, Coia V, Wallace D, Oefner P, Torroni A, Cavalli-Sforza L, Scozzari R, Underhill P (2002) A back migration from Asia to sub-Saharan Africa is supported by high-resolution analysis of human Y-chromosome haplotypes. Am J Hum Genet 70:1197–1214Google Scholar
  9. Excoffier L, Smouse PE, Quattro JM (1992) Analysis of molecular variance inferred from metric distances among haplotypes: application to human mitochondrial DNA restriction data. Genetics 131:479–491PubMedGoogle Scholar
  10. 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:(in press)Google Scholar
  11. Flores C, Maca-Meyer N, Pérez J, González A, Larruga J, Cabrera V (2003) A predominant European ancestry of paternal lineages from Canary Islanders. Ann Hum Genet 67:138–152Google Scholar
  12. Godinho VM (1965) Os Descobrimentos e a Economia Mundial, vol 1 and 2. Arcádia, LisbonGoogle Scholar
  13. Hammer MF, Redd A, Wood E, Bonner M, Jarjanazi H, Karafet T, Santachiara-Benerecetti S, Oppenheim A, Jobling M, Jenkins T, Ostrer H, Bonné-Tamir B (2000) Jewish and Middle Eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypes. Proc Natl Acad Sci USA 10:1073–1078Google Scholar
  14. Hurles M, Veitia R, Arroyo E, Armenteros M., Bertranpetit J, Pérez-Lazeum A, Bosch E, Shumukova M, Cambon-Thomsen A, McElreavey K, Munain A, Rohl A, Wilson I, Singh L, Pandya A, Santos F, Tyler-Smith C, Jobling M (1999) Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism. Am J Hum Genet 65:1437–1448PubMedGoogle Scholar
  15. Lareu MV, Phillips C, Carracedo A, Lincoln P, Syndercombe D, Thompson J (1994) Investigation of the STR locus HUMTH01 using PCR and two electrophoresis formats: UK and Galician Caucasian population surveys and usefulness in paternity investigations. Forensic Sci Int 66:41–52PubMedGoogle Scholar
  16. Lessa A, Ruffie J (1960) Seroantropologia das Ilhas de Cabo Verde. Mesa redonda sobre o homem Cabo-Verdiano. Estudos, Ensaios e Documentos, vol 32. Junta de Investigações do Ultramar, LisboaGoogle Scholar
  17. Long JC (1991) The genetic structure of admixed populations. Genetics 142:417–428Google Scholar
  18. Malaspina P, Tsopanomichalou M, Duman T, Stefan M, Silvesti A, Rinaldi B, Garcia O, Giparaki M, Plata E, Kozlov A, Barbujani G, Vernesi C, Papola F, Ciavarella G, Kovatchev D, Kerimova M, Anagnou N, Gavrila L, Veneziano L, Akar N, Loutradis A, Michalodimitrakis E, Terrenato L, Novelletto A (2001) A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area. Ann Hum Genet 65:339–349Google Scholar
  19. Nebel A, Filon D, Brinkmann B, Majumder PP, Faerman M, Oppenheim A (2001) The Y chromosome pool of Jews as part of the genetic landscape of the Middle East. Am J Hum Genet 69:1095–1112Google Scholar
  20. Roberts D, Hiorns R (1965) Methods of analysis of the genetic composition of a hybrid population. Hum Biol 37:38–43Google Scholar
  21. Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A, Amos W, Armenteros M, Arroyo E, Barbujani G, Beckman G, Beckman L, Bertranpetit J, Bosch E, Bradley DG, Brede G, Cooper G, Corte-Real HB, Knijff P de, Decorte R, Dubrova YE, Evgrafov O, Gilissen A, Glisic S, Golge M, Hill EW, Jeziorowska A, Kalaydjieva L, Kayser M, Kivisild T, Kravchenko SA, Krumina A, Kucinskas V, Lavinha J, Livshits LA, Malaspina P, Maria S, McElreavey K, Meitinger TA, Mikelsaar AV, Mitchell RJ, Nafa K, Nicholson J, Norby S, Pandya A, Parik J, Patsalis PC, Pereira L, Peterlin B, Pielberg G, Prata MJ, Previdere C, Roewer L, Rootsi S, Rubinsztein DC, Saillard J, Santos FR, Stefanescu G, Sykes BC, Tolun A, Villems R, Tyler-Smith C, Jobling MA (2000) Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. Am J Hum Genet 67:1526–1543PubMedGoogle Scholar
  22. Russel-Wood AJ (1998) The Portuguese Empire, 1415–1808. A world on the move. Johns Hopkins University Press, BaltimoreGoogle Scholar
  23. Schneider S, Kueffer J-M, Roessli D, Excoffier L (2000) Arlequin: a software for population genetic data analysis. Genetics and Biometry Laboratory, University of Geneva, SwitzerlandGoogle Scholar
  24. Scozzari R, Cruciani F, Santolamazza P, Malaspina P, Torroni A, Sellitto D, Arredi B, Destro-Bisol G, De Stefano G, Rickards O, Martinez-Labarga C, Modiano D, Biondi G, Moral P, Olckers A, Wallace D, Novelletto A (1999) Combined use of bi-allelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations. Am J Hum Genet 65:829–846Google Scholar
  25. Semino O, Passarino G, Oefner P, Lin A, Arbuzova S, Beckman L, De Benedictis G, Francalacci P, Kouvatsi A, Limborska S, Marcikiae M, Mika A, Mika B, Primorac D, Santachiara-Benerecetti A, Cavalli-Sforza L, Underhill P (2000) The genetic legacy of palaeolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective. Science 290:1155–1159PubMedGoogle Scholar
  26. Semino O, Santachiara-Benerecetti A, Falaschi F, Cavalli-Sforza L, Underhill P (2002) Ethiopians and Khoisans share the deepest clades of the human Y-chromosome phylogeny. Am J Hum Genet 70:265–268CrossRefPubMedGoogle Scholar
  27. 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 66:285–296CrossRefPubMedGoogle Scholar
  28. Underhill P, Shen P, Lin A, Jin L, Passarino G, Yang W, Kauffman E, Bonne-Tamir B, Bertranpetit J, Francalacci P, Ibrahim M, Jenkins T, Kidd J, Mehdi S, Seielstad M, Wells R, Piazza A, Davis R, Feldman M, Cavalli-Sforza L, Oefner P (2000) Y chromosome sequence variation and the history of human populations. Nat Genet 26:358–361CrossRefPubMedGoogle Scholar
  29. Underhill P, Passarino G, Lin A, Shen P, Mirazon Lahr M, Foley R, Oefner P, Cavalli-Sforza L (2001) The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Ann Hum Genet 65:43–62Google Scholar
  30. Y Chromosome Consortium (2002) A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res 12:339–348PubMedGoogle Scholar

Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  • Rita Gonçalves
    • 1
  • Alexandra Rosa
    • 1
    • 2
  • Ana Freitas
    • 1
  • Ana Fernandes
    • 1
  • Toomas Kivisild
    • 2
  • Richard Villems
    • 2
  • António Brehm
    • 1
    Email author
  1. 1.Human Genetics Laboratory, Center of Macaronesian StudiesUniversity of MadeiraFunchalPortugal
  2. 2.Tartu UniversityEstonian BiocenterTartuEstonia

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