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Genetic sub-structure in western Mediterranean populations revealed by 12 Y-chromosome STR loci

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Abstract

Haplotype and allele frequencies of 12 Y-chromosome short tandem repeat (Y-STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385 a/b, DYS437, DYS438 and DYS439) included in the Powerplex® Y System were determined in seven western Mediterranean populations from Valencia, Majorca, Ibiza (eastern Spain), Sicily and three Calabrian provinces (southern Italy). Amongst the 554 males included in the study, 443 different haplotypes were observed of which 372 were only observed once. The other haplotypes were shared by two to seven men. The overall haplotype diversity was 0.9988 ± 0.0002. These Y-STRs markers showed a low capacity of discrimination (56.3%) in the Ibiza population probably due to genetic drift. Comparisons between the populations studied and other neighbouring populations showed a clear genetic sub-structure in the western Mediterranean area.

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References

  1. Alarco Von Perfall C (1981) Cultura y personalidad en Ibiza. Editora Nacional, Madrid

    Google Scholar 

  2. Balaresque P, Parkin EJ, Roewer L et al (2008) Genomic complexity of the Y-STR DYS19: inversions, deletions and founder lineages carrying duplications. Int J Legal Med (in press)

  3. Beleza S, Alves C, González-Neira A, Lareu M, Amorim A, Carracedo A, Gusmão L (2003) Extending STR markers in Y chromosome haplotypes. Int J Legal Med 117:27–33

    PubMed  CAS  Google Scholar 

  4. Bosch E, Calafell F, Comas D, Oefner PJ, Underhill PA, 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 68:1019–1029

    Article  PubMed  CAS  Google Scholar 

  5. Bosch E, Calafell F, González-Neira A et al (2006) Paternal and maternal lineages in the Balkans show a homogeneous landscape over linguistic barriers, except for the isolated Aromuns. Ann Hum Genet 70:459–487

    Article  PubMed  CAS  Google Scholar 

  6. Butler JM, Decker AE, Kline MC, Vallone PM (2005) Chromosomal duplications along the Y-chromosome and their potential impact on Y-STR interpretation. J Forensic Sci 50:853–859

    PubMed  CAS  Google Scholar 

  7. Calò CM, Garofano L, Mameli A, Pizzamiglio M, Vona G (2003) Genetic analysis of a Sicilian population using 15 short tandem repeats. Hum Biol 75:163–178

    Article  PubMed  Google Scholar 

  8. Chang YM, Perumal R, Keat PY, Kuehn DL (2007) Haplotype diversity of 16 Y-chromosomal STRs in three main ethnic populations (Malays, Chinese and Indians) in Malaysia. Forensic Sci Int 167:70–76

    Article  PubMed  CAS  Google Scholar 

  9. Cherni L, Pereira L, Goios A et al (2005) Y-chromosomal STR haplotypes in three ethnic groups and one cosmopolitan population from Tunisia. Forensic Sci Int 152:95–99

    Article  PubMed  CAS  Google Scholar 

  10. Comas D, Calafell F, Benchemsi N, Helal A, Lefranc G, Stoneking M, Batzer MA, Bertranpetit J, Sajantilla A (2000) Alu insertion polymorphisms in NW Africa and the Iberian peninsula: evidence for a strong genetic boundary through the Gibraltar straits. Hum Genet 107:312–329

    Article  PubMed  CAS  Google Scholar 

  11. Excoffier L, Laval G, Schneider S (2005) Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evol Bioinf Online 1:47–50

    CAS  Google Scholar 

  12. Felsenstein J (2007) PHYLIP (Phylogeny Inference Package) version 3.67. Distributed by the author. Department of Genome Sciences, University of Washington, Seattle

    Google Scholar 

  13. Francalacci P, Morelli L, Underhill PA et al (2003) Peopling of three Mediterranean islands (Corsica, Sardinia, and Sicily) inferred by Y-chromosome biallelic variability. Am J Phys Anthropol 121:270–279

    Article  PubMed  CAS  Google Scholar 

  14. Gérard N, Berriche S, Aouizerate A, Dieterlen F, Lucotte G (2006) North African Berber and Arab influences in the western Mediterranean revealed by Y-chromosome DNA haplotypes. Hum Biol 78:307–316

    Article  PubMed  Google Scholar 

  15. Ghiani ME, Piras IS, Mitchell RJ, Vona G (2004) Y-chromosome 10 locus short tandem repeat haplotypes in a population sample from Sicily Italy. Legal Med 6:89–96

    Article  CAS  Google Scholar 

  16. Gusmão L, Butler JM, Carracedo A et al (2006) DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendation on the use of Y-STRs in forensic analysis. Int J Legal Med 120:191–200

    Article  PubMed  Google Scholar 

  17. Hall TA (1999) BioEdit: a user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucleic Acids Symp Ser 41:95–98

    CAS  Google Scholar 

  18. Hallenberg C, Nielsen K, Simonsen B, Sánchez J, Morling N (2005) Y-chromosome STR haplotypes in Danes. Forensic Sci Int 155:205–210

    Article  PubMed  CAS  Google Scholar 

  19. Hohoff C, Dewa K, Sibbing U, Hoppe K, Forster P, Brinkmann B (2007) Y-chromosomal microsatellite mutation rates in a population sample from northwestern Germany. Int J Legal Med 121:359–363

    Article  PubMed  Google Scholar 

  20. Lim SK, Xue Y, Parkin EJ, Tyler-Smith C (2007) Variation of 52 new Y-STR loci in the Y Chromosome Consortium worldwide panel of 76 diverse individuals. Int J Legal Med 121:124–127

    Article  PubMed  Google Scholar 

  21. López AM, Alvarez S, Gusmão L et al (2004) Population data for 16 Y-chromosome STRs in four populations from Pyrenees (Spain). Forensic Sci Int 140:125–129

    Article  PubMed  Google Scholar 

  22. Macabich I (1966) Historia de Ibiza. Volumen I. Daedalus, Palma de Mallorca

    Google Scholar 

  23. Martín P, García-Hirschfeld J, García O et al (2004) A Spanish population study of 17 Y-chromosome STR loci. Forensic Sci Int 139(1):231–235

    Article  PubMed  Google Scholar 

  24. Picornell A, Gómez-Barbeito L, Tomàs C, Castro JA, Ramon MM (2005) Mitochondrial DNA HVRI variation in Balearic populations. Am J Phys Anthropol 128:119–130

    Article  PubMed  CAS  Google Scholar 

  25. Picornell A, Miguel A, Castro JA, Ramon MM, Arya R, Crawford MH (1996) Genetic variation in the population of Ibiza (Spain): genetic structure, geography and language. Hum Biol 68:899–913

    PubMed  CAS  Google Scholar 

  26. Pontes ML, Cainé L, Abrantes D, Lima G, Pinheiro MF (2007) Allele frequencies and population data for 17 Y-STR loci (AmpFlSTR Y-filer) in a northern Portuguese population sample. Forensic Sci Int 170:62–67

    Article  PubMed  CAS  Google Scholar 

  27. Quintana-Murci L, Semino O, Minch E, Passarino G, Brega A, Santachiara-Benerecetti AS (1999) Further characteristics of proto-European Y chromosomes. Eur J Hum Genet 7:603–608

    Article  PubMed  CAS  Google Scholar 

  28. Quintana-Murci L, Veitia R, Fellous M, Semino O, Poloni ES (2003) Genetic structure of Mediterranean populations revealed by Y-chromosome haplotype analysis. Am J Phys Anthropol 121:157–171

    Article  PubMed  Google Scholar 

  29. Rapone C, Geraci A, Capelli C et al (2007) Y chromosome haplotypes in central-south Italy: implication for reference database. Forensic Sci Int 172:67–71

    Article  PubMed  CAS  Google Scholar 

  30. Reynolds J, Weir BS, Cockerham CC (1983) Estimation of the coancestry coefficient: basis for a short-term genetic distance. Genetics 105:767–779

    PubMed  Google Scholar 

  31. Robino C, Inturri S, Gino S et al (2006) Y-chromosomal STR haplotypes in Sicily. Forensic Sci Int 159:235–240

    Article  PubMed  CAS  Google Scholar 

  32. Roewer L, Willuweit S, Krüger C et al (2008) Analysis of Y chromosome STR haplotypes in the European part of Russia reveals high diversities but non-significant genetic distances between populations. Int J Legal Med 122:219–223

    Article  PubMed  Google Scholar 

  33. Sánchez C, Barrot C, Xifró A et al (2007) Haplotype frequencies of 16 Y-chromosome STR loci in the Barcelona metropolitan area population using Y-Filer™ kit. Forensic Sci Int 172:211–217

    Article  PubMed  Google Scholar 

  34. Scozzari R, Cruciani F, Pangrazio A et al (2001) Human Y-chromosome variation in the western Mediterranean area: implications for the peopling of the region. Hum Immunol 62:871–884

    Article  PubMed  CAS  Google Scholar 

  35. Semino O, Torroni A, Scozzari R, Brega A, De Benedictis G, Santachiara Benerecetti AS (1989) Mitochondrial DNA polymorphisms in Italy. III. Population data from Sicily: a possible quantitation of maternal African ancestry. Ann Hum Genet 53:193–202

    Article  PubMed  CAS  Google Scholar 

  36. Tagarelli A, Piro A, Tagarelli G, Zinno F (2000) Color-blindness in Calabria (southern Italy): a north–south decreasing trend. Am J Hum Biol 12:17–24

    Article  PubMed  Google Scholar 

  37. Tomàs C, Jiménez G, Picornell A, Castro JA, Ramon MM (2006) Differential maternal and paternal contributions to the genetic pool of Ibiza Island, Balearic Archipelago. Am J Phys Anthropol 129:268–278

    Article  PubMed  Google Scholar 

  38. Willuweit S, Roewer L, on behalf of the International Forensic Y Chromosome User Group (2007) Y chromosome haplotype reference database (YHRD): update. Forensic Sci Int: Genetics 1:83–87

    Article  Google Scholar 

Download references

Acknowledgements

This work was partially supported by grants PRDT-2003-12099 and PRDIB-2006-687872 from the Direcció General de R+D+I (Comunitat Autònoma de les Illes Balears) and by Ellen and Aage Andersen’s Foundation.

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Authors and Affiliations

  1. Institut Universitari d’Investigacions en Ciències de la Salut (IUNICS) i Laboratori de Genètica, Departament de Biologia, Universitat de les Illes Balears, Carretera de Valldemossa, km 7.5, 07122, Palma de Mallorca, Illes Balears, Spain

    V. Rodríguez, J. A. Castro, M. M. Ramon & A. Picornell

  2. Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, 11 Frederik V’s Vej, 2100, Copenhagen, Denmark

    C. Tomàs, J. J. Sánchez & N. Morling

  3. Delegación de Canarias, Instituto Nacional de Toxicología y Ciencias Forenses, Campus de Ciencias de la Salud, La Cuesta, 38320, Tenerife, Spain

    J. J. Sánchez

  4. Sezione di Genetica Forense, Studio Indagini Mediche e Forensi (SIMEF), 89128, Reggio Calabria, Italy

    A. Barbaro

Authors
  1. V. Rodríguez
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  2. C. Tomàs
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  3. J. J. Sánchez
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  4. J. A. Castro
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  5. M. M. Ramon
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  6. A. Barbaro
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  7. N. Morling
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  8. A. Picornell
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Corresponding author

Correspondence to A. Picornell.

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Fig. S1

Geographic location of the populations studied. IBZ Ibiza, MAJ Majorca, VAL Valencia, SIC Sicily, RC Reggio Calabria, CAT Catanzaro, CSZ Cosenza (DOC 415 KB

Table S1

Allele frequency distribution of the 12 Y-STRs included in the Powerplex® Y kit (Promega) in seven western Mediterranean populations (DOC 434 KB)

Table S2

Y-chromosome STR haplotypes in 554 unrelated men from the western Mediterranean region (DOC 127 MB)

Table S3

Pairwise comparisons of populations (DOC 365 KB)

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Rodríguez, V., Tomàs, C., Sánchez, J.J. et al. Genetic sub-structure in western Mediterranean populations revealed by 12 Y-chromosome STR loci. Int J Legal Med 123, 137–141 (2009). https://doi.org/10.1007/s00414-008-0302-y

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  • DOI: https://doi.org/10.1007/s00414-008-0302-y

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