Abstract
In this study, we investigate the forensic and population genetics properties of 21 X-chromosome markers (9 X-Alu insertions and 12 X-STRs) in a dataset composed of 716 individuals from 11 Western Mediterranean populations. The high values of combined forensic parameters indicate that this 21 X-loci panel can complement autosomal or uniparental markers in kinship analysis and complex deficient paternity testing in the populations studied. Population analyses revealed a lower differentiation between Western Mediterranean human groups for X-STRs than for X-Alu insertion polymorphisms. Moreover, X-chromosome markers suggest a sex-biased migration rate, confirming the predominance of patrilocality in this area.
Similar content being viewed by others
References
Pimenta J, Lopes AM, Comas D, Amorim A, Arenas M (2017) Evaluating the Neolithic expansion at both shores of the Mediterranean Sea. Mol Biol Evol 34(12):3232–3242
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(1):75
Hernández CL, Pita G, Cavadas B, López S, Sánchez-Martínez LJ, Dugoujon JM, Novelletto A, Cuesta P, Pereira L, Calderón R (2020) Human genomic diversity where the Mediterranean joins the Atlantic. Mol Biol Evol 37(4):1041–1055
Zalloua PA, Platt DE, El Sibai M et al (2008) Identifying genetic traces of historical expansions: Phoenician footprints in the Mediterranean. Am J Hum Genet 83(5):633–642
Botigué LR, Henn BM, Gravel S et al (2013) Gene flow from North Africa contributes to differential human genetic diversity in southern Europe. Proc Natl Acad Sci U S A 110(29):11791–11796
Larmuseau MH, Ottoni C (2018) Mediterranean Y-chromosome 2.0—why the Y in the Mediterranean is still relevant in the postgenomic era. Ann Hum Biol 45(1):20–33
De Angelis F, Scorrano G, Martínez-Labarga C, Scano G, Macciardi F, Rickards O (2018) Mitochondrial variability in the Mediterranean area: a complex stage for human migrations. Ann Hum Biol 45(1):5–19
Santamaría J, Álvarez-Álvarez MM, Esteban ME, Ramon-Gurrea E, Moral P (2018) Dinucleotide (CA) n tandem repeats on the human X-chromosome and the history of the Mediterranean populations. Ann Hum Biol 45(1):72–76
Biagini SA, Solé-Morata N, Matisoo-Smith E, Zalloua P, Comas D, Calafell F (2019) People from Ibiza: an unexpected isolate in the Western Mediterranean. Eur J Hum Genet 27(6):941–951
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(1):17–24
Schaffner SF (2004) The X chromosome in population genetics. Nat Rev Genet 5(1):43–51
Bustamante CD, Ramachandran S (2009) Evaluating signatures of sex-specific processes in the human genome. Nat Genet 41(1):8–10
Gomes I, Pinto N, Antão-Sousa S, Gusmão L, Gomes V, Amorim A (2020) Twenty years later: a comprehensive review of the X chromosome use in forensic genetics. Front Genet 11:926
Ferragut JF, Bentayebi K, Pereira R, Castro JA, Amorim A, Ramon C, Picornell A (2017) Genetic portrait of Jewish populations based on three sets of X-chromosome markers: Indels, Alu insertions and STRs. Forensic Sci Int Genet 31:e5–e11
Singh G, Sandhu HS, Srinivas Y, Matharoo K, Bhanwer AJS (2019) Genetic portrait of North-West Indian population based on X chromosome Alu insertion markers. Int J Legal Med 134(5):1655–1657
Callinan PA, Hedges DJ, Salem AH, Xing J, Walker JA, Garber RK, Watkins WS, Bamshad MJ, Jorde LB, Batzer MA (2003) Comprehensive analysis of Alu-associated diversity on the human sex chromosomes. Gene 317:103–110
Bentayebi K, Picornell A, Bouabdeallah M, Castro JA, Aboukhalid R, Squalli D, Misericòrdia M, Amzazi S (2012) Genetic diversity of 12 X-chromosomal short tandem repeats in the Moroccan population. Forensic Sci Int Genet 6(1):e48–e49
Ferragut JF, Bentayebi K, Castro JA, Ramon C, Picornell A (2015) Genetic analysis of 12 X-chromosome STRs in Western Mediterranean populations. Int J Legal Med 129(2):253–255
Bentayebi K, Ramon MM, Castro JA, Barbaro A, Bouabdeallah M, Amzazi S, Picornell A (2011) Inferring ethnicity from the X-chromosome ALU insertions: data from Western Mediterranean human groups. Forensic Sci Int Genet Suppl Ser 3(1):e27–e28
Mantel N (1967) The detection of disease clustering and a generalized regression approach. Cancer Res 27(2 Part 1):209–220
Excoffier L, Lischer HE (2010) Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows. Mol Ecol Resour 10(3):564–567
Sumita DR, Whittle MR (2009) Updated allelic structures of the DXS10135 and DXS10078 STR loci. Forensic Sci Int Genet Suppl Ser 2(1):51–52
Bosch E, Calafell F, Pérez-Lezaun A, Clarimón J, Comas D, Mateu E, Martínez-Arias R, Morera B, Brakez Z, Akhayat O, Sefiani A, Hariti G, Cambon-Thomsen A, Bertranpetit J (2000) Genetic structure of north-west Africa revealed by STR analysis. Eur J Hum Genet 8(5):360–366
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(2):157–171
Rasteiro R, Bouttier PA, Sousa VC, Chikhi L (2012) Investigating sex-biased migration during the Neolithic transition in Europe, using an explicit spatial simulation framework. Proc Biol Sci 279(1737):2409–2416
Robino C, Lacerenza D, Aneli S, Di Gaetano C, Matullo G, Robledo R, Calò C (2018) Allele and haplotype diversity of 12 X-STRs in Sardinia. Forensic Sci Int Genet 33:e1–e3
Acknowledgements
We are grateful to Maria Trinidad Garcia (from the Serveis Cientificotècnics of the Universitat de les Illes Balears) for her assistance and help with capillary electrophoresis procedures and Meryl Jones for the English language corrections. We would also like to sincerely thank all the people who volunteered to participate in this study.
Funding
This work was partially supported by grant AAEE133/09 from the Direcció General de R + D + I (Comunitat Autònoma de les Illes Balears) and European Regional Development Fund (ERDF). KB was a recipient of an AVERROES grant (Erasmus MUNDUS, European Commission).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
All participants provided written informed consent statements in accordance with the approval of the respective local committees: Italian Law D.lgs. 196/2003 (and subsequent supplement) and SIMEF internal procedures, Ethical Committee of the University of Mohammed V-Agdal (Morocco), and the Direcció General de R + D + I (Government of Balearic Islands, Spain) (procedure AAEE133/2009). The anonymity of the recruited samples was preserved throughout the study.
Conflict of interest
The authors declare that they have no conflict of interest.
Additional information
Publisher’s note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Ferragut, J.F., Bentayebi, K., Barbaro, A. et al. Exploring the Western Mediterranean through X-chromosome. Int J Legal Med 135, 787–790 (2021). https://doi.org/10.1007/s00414-020-02498-4
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00414-020-02498-4