Population relationships in the mediterranean revealed by autosomal genetic data (Alu and Alu/STR compound systems)

American Journal of Physical Anthropology

Volumn 141, Issue 3, 2010, Pages 430-439

  González Pérez, Emili ^a   Esteban, Esther ^a   Via, Marc ^a,b,c   Gayà Vidal, Magdalena ^a   Athanasiadis, Georgios ^a   Dugoujon, Jean Michel ^d   Luna, Francisco ^e   Mesa, Maria Soledad ^e   Fuster, Vicente ^e   Kandil, Mostafa ^f   Harich, Nourdin ^f   Bissar Tadmouri, Nisrine ^g   Saetta, Angela ^h   Moral, Pedro ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d CNRS   (France)

^e UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

^f FACULTÉ DES SCIENCES   (Morocco)

^g UNIVERSITY OF SHARJAH   (United Arab Emirates)

^h UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

Author keywords

Berber; Genetic admixture; Haplotypes; Sahara

Indexed keywords

AFRICA; ALU SEQUENCE; ARTICLE; AUTOSOMAL INHERITANCE; BIODIVERSITY; ETHNIC DIFFERENCE; GENE FLOW; GENETIC ANALYSIS; GENETIC DATABASE; GENETIC HETEROGENEITY; GENETIC MARKER; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GEOGRAPHY; GREECE; HUMAN; HUMAN EXPERIMENT; MUTATION RATE; NORMAL HUMAN; PARENTAGE ANALYSIS; POPULATION AND POPULATION RELATED PHENOMENA; SHORT TANDEM REPEAT; SOUTHERN EUROPE; TURKEY (REPUBLIC);

AFRICA SOUTH OF THE SAHARA; AFRICA, NORTHERN; BLOOD DONORS; CHROMOSOME MAPPING; DNA; EUROPE; GENETIC MARKERS; GENETIC VARIATION; HAPLOTYPES; HETEROZYGOTE; HUMANS; LANGUAGE; MEDITERRANEAN REGION; MICROSATELLITE REPEATS; POLYMORPHISM, GENETIC; SPAIN;

EID: 76149118412     PISSN: 00029483     EISSN: 10968644     Source Type: Journal    
DOI: 10.1002/ajpa.21161     Document Type: Article

References (53)

1. Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, Scozzari R, Cruciani F, Zeviani M, Briem E, Carelli V, Moral P, Dugoujon JM, Roostalu U, Loogvali EL, Kivisild T, Bandelt HJ, Richards M, Villems R, Santachiara- Benereceti AS, Semino O, Torroni A. 2004. The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet 75:910-918.
2. Arcot SS, Shaikh TH, Kim J, Bennett L, Alegria-Hartman M, Nelson DO, Deininger PL, Batzer MA. 1995. Sequence diversity and chromosomal distribution of "young" Alu repeats. Gene 163:273-278.
3. Arredi B, Poloni ES, Parachini S, Zerjal T, Fathallah DM, Makfrelouf M, Pascali VL, Novelletto A, Tyler-Smith C. 2004. A predominantly neolithic origin for Y-chromosome variation in North Africa. Am J Hum Genet 75:338-345.
4. Batzer MA, Arcot SS, Phinney JW, Alegria-Hartman M, Kass DH, Milligan SM, Kimpton C, Gill P, Hochmeister M, Ioannou PA, Herrera RJ, Boudreau DA, Scheer WD, Keats BJ, Deininger PL, Stoneking M. 1996. Genetic variation of recent Alu insertions in human populations. J Mol Evol 42:22-29.
5. Batzer MA, Deininger PL. 1991. A human-specific subfamily of Alu sequences. Genomics 9:481-487.
6. Bengtssoon BO, Thomson G. 1981. Measuring the strength of associations between HLA antigens and diseases. Tissue Antigens 18:356-363.
7. 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.
8. Bosch E, Calafell F, Pérez-Lezaun A, Comas D, Mateu E, Bertranpetit J. 1997. Population history of north Africa: evidence from classical genetic markers. Hum Biol 69:295-311.
9. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T. 1992. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ a transcript encoding a protein kinase family member. Cell 68:799-808.
10. Comas D, Calafell F, Benchemsi N, Helel A, Lefranc G, Stoneking M, Batzer MA, Bertranpetit J, Sajantila A. 2000. Alu insertion polymorphisms in NW Africa and the Iberian Peninsula: evidence for a strong genetic boundary through the Gibraltar Strait. Hum Genet 107:312-319.
11. Coudray C, Guitard E, Kandil M, Harich N, Melhaoui M, Baali A, Sevin A, Moral P, Dugoujon JM. 2006. Study of GM immunoglobulin allotypic system in Berbers and Arabs from Morocco. Am J Hum Biol 18:23-34.
12. Coudray C, Olivieri A, Achilli A, Maria Pala M, Melhaoui M, Cherkaoui M, El-Chennawi F, Kossman M, Torroni A, Dugoujon JM. 2009. The complex and diversified mitochondrial gene pool of Berber populations. Ann Hum Genet 73:196-214.
13. Cruciani F, La Fratta R, Trombetta B, Santolamazza P, Sellito D, Colomb EB, Dugoujon JM, Crivellaro F, Benincasa T, Pascone R, Moral P, Watson E, Melegh B, Barbujani G, Fuselli S, Vona G, Zagradisnik B, Assum G, Brdicka R, Kozlov AI, Efremov GD, Coppa A, Novelletto A, Scozzari R. 2007. Tracing past human male movements in Northern/Eastern Africa and West Eurasia: new clues from Y-chromosomal haplogroups E-M78 and J-M12. Mol Biol Evol 24:1300-1311.
14. Cunliffe B. 2008. Europe between the oceans: 9000 BC-AD 1000. New Haven: Yale University Press.
15. Dubief J. 1999. L'Ajjer, Sahara central. Paris: Karthala Editions. Edwards MC, Gibbs RA. 1992. A human dimorphism resulting from loss of an Alu. Genomics 14:590-597.
16. Esteban E, González-Pérez E, Harich N, López-Alomar A, Via M, Luna F, Moral P. 2004. Genetic relationships among Berbers and South Spaniards based on CD4 microsatellite/Alu haplotypes. Ann Hum Biol 31:202-212.
17. Esteban E, Rodon N, Via M, González-Pérez E, Santamaria J, Dugoujon JM, El Chennawi F, Melhaoui M, Cherkaoui M, Vona G, Harich N, Moral P. 2006. Androgen receptor CAG and GGC polymorphisms in Mediterraneans: repeat dynamics and population relationships. J Hum Genet 51:129-136.
18. Excoffier L, Laval G, Schneider S. 2005. ARLEQUIN ver. 3.0: an integrated software package for population genetics data analysis. Evol Bioinform Online 1:47-50.
19. Fadhlaoui-Zid K, Plaza S, Calafell F, Ben Amor M, Comas D, Bennamar El gaaied A. 2004. Mitochondrial DNA heterogeneity in Tunisian Berbers. Ann Hum Genet 68:222-233.
20. Fakhry A. 1973. Siwa oasis. Cairo: The American University in Cairo Press.
21. Flores C, Maca-Meyer N, Gonzalez AM, Cabrera VM. 2000. Northwest African distribution of the CD4/Alu microsatellite haplotypes. Ann Hum Genet 64:321-327.
22. Flores C, Maca-Meyer N, Perez JA, Cabrera VM. 2001. The peopling of the Canary Islands: a CD4/Alu Microsatellite haplotype perspective. Hum Immunol 62:949-953.
23. Gaspar P, Seixas S, Rocha J. 2004. Genetic variation in a compound short tandem repeat/Alu haplotype system at the SB19.3 locus: properties and Interpretation. Hum Biol 76:277-287.
24. Gerard 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.
25. Goldstein DB, Ruiz-Linares A, Cavalli-Sforza LL, Feldman MW. 1995. An evaluation of genetic distances for use with microsatellite loci. Genetics 139:463-471.
26. González-Pérez E, Moral P, Via M, Vona G, Varesi L, Santamaria J, Gayà-Vidal M, Esteban E. 2007. The ins and outs of population relationships in West Mediterranean Islands: data from autosomal Alu polymorphisms and Alu/STR compound systems. J Hum Genet 52:999-1010.
27. González-Pérez E, Via M, Esteban E, López-Alomar A, Mazieres S, Harich N, Kandil M, Dugoujon JM, Moral P. 2003. Alu insertions in the Iberian Peninsula and NW Africa: genetic boundaries or melting pot? Coll Antropol 27:491-500.
28. Guo S, Thomson E. 1992. Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics 48:361-372.
29. Kimura M, Ohta T. 1973. The age of a neutral mutant persisting in a finite population. Genetics 75:199-212.
30. JZ, Absher DM, Tang H, Southwick AM, Casto AM, Ramachandran S, Cann HM, Barsh GS, Feldman M, Cavalli-Sforza LL, Myers RM. 2008. Worldwide human relationships inferred from genome-wide patterns of variation. Science 319:1100-1104.
31. Mateus Pereira LH, Socorro A, Fernandez I, Masleh M, Vidal D, Bianchi NO, Bonatto SL, Salzano FM, Herrera RJ. 2005. Phylogenetic information in polymorphic L1 and Alu insertions from East Asians and Native American populations. Am J Phys Anthropol 128:171-184.
32. Moral P, Esteban E, DeGrado M. 2006. Genetics of a human cultural and geographic isolate: the Pas Valley population from the North of the Iberian Peninsula. Human Genetic Isolates: 29-37. Carla Caló and Giuseppe Vona Ed.
33. Myles S, Bouzekri N, Haverfield E, Cherkaoui M, Dugoujon JM, Ward R. 2005. Genetic evidence in support of a shared Eurasian-North African dairying origin. Hum Genet 117:34-42.
34. Nei M. 1987. Molecular evolutionary genetics. New York: Columbia University Press.
35. Nishimura DY, Murray JC. 1992. A tetranucleotide repeat for the F13B locus. Nucleic Acid Res 20:1167.
36. Norwich JJ. 2007. The Middle Sea: a history of the Mediterranean. London: Secker and Warburg.
37. Olesa Muñ ido F. 1968. La organización naval de los estados mediterráneos, y en especial de España durante los siglos XVI y XVII. Madrid.
38. Olivieri A, Achilli A, Pala M, Battaglia V, Fornarino S, Al-Zahery N, Scozzari R, Cruciani F, Behar DM, Dugoujon JM, Coudray C, Santachiara- Benerecetti AS, Semino O, Bandelt HJ, Torroni A. 2006. The mtDNA legacy of the Levantine Early Upper Palaeolithic in Africa. Science 314:1767-1770.
39. Pakendorf B, Stoneking M. 2005. Mitochondrial DNA and human evolution. Annu Rev Genomics Hum Genet 6:497-429.
40. Plaza S, Calafell F, Helal A, Bouzerna N, Lefranc G, Bertranpetit J, Comas D. 2003. Joining the pillars of Hercules: mtDNA sequences show multidirectional gene flow in the Western Mediterranean. Ann Hum Genet 67:312-328.
41. 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.
42. Ramakrishnan U, Mountain JL. 2004. Precision and accuracy of divergence time estimates from STR and SNPSTR variation. Mol Biol Evol 21:1960-1971.
43. Raymond M, Rousset F. 1995. GENEPOP (version 1.2): population genetics software for exact tests and ecumenicism. J Hered 86:248-249.
44. Relethford JH. 2008. Geostatistics and spatial analysis in biological anthropology. Am J Phys Anthropol 136:1-10.
45. Reynolds J, Weir BS, Cockerman CC. 1983. Estimation of the coancestry coefficient: basis for a short term genetic distance. Genetics 105:767-779.
46. Simoni L, Gueresi P, Pettener D, Barbujani G. 1999. Patterns of gene flow inferred from genetic distances in the Mediterranean region. Hum Biol 71:399-415.
47. Slatkin M. 1995. A measure of population subdivision based on microsatellite allele frequencies. Genetics 139:457-462.
48. Slatkin M, Rannala B. 2000. Estimating allele age. Annu Rev Genomics Hum Genet 1:225-49.
49. Tishkoff SA, Dietzsch E, Speed W, Pakstis AJ, Kidd JR, Cheung K, Bonné-Tamir B, Santachiara-Benerecetti AS, Moral P, Krings M. 1996. Global patterns of linkage disequilibrium at the CD4 locus and modern human origins. Science 271:1380-1387.
50. Tomas C, Sanchez JJ, Barbaro A, Brandt-Casadevall C, Hernandez A, Ben Dhiab M, Ramon M, Morling N. 2008. X-chromosome SNP analyses in 11 human Mediterranean populations show a high overall genetic homogeneity except in North-west Africans (Moroccans). BMC Evol Biol 8:75.
51. Wang J. 2003. Maximum-likelihood estimation of admixture proportions from genetic data. Genetics 164:747-765.
52. Watkins WS, Ricker CE, Bamshad MJ, Carroll ML, Nguyen SV, Batzer MA, Harpending HC, Rogers AR, Jorde L. 2001. Patterns of ancestral human diversity: an analysis of Alu-insertion and restriction-site polymorphisms. Am J Hum Genet 68:738-752.
53. Wilkins JF. 2006. Unraveling male and female histories from human genetic data. Curr Opin Genet Dev 16:611-617.