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01-05-2021 | Population Data

Exploring the Western Mediterranean through X-chromosome

Authors: J. F. Ferragut, K. Bentayebi, A. Barbaro, M. Ramírez, A. Y. Saguillo, C. Ramon, A. Picornell

Published in: International Journal of Legal Medicine | Issue 3/2021

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.

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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):3232–3242CrossRef

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):75CrossRef

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):1041–1055CrossRef

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):633–642CrossRef

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):11791–11796CrossRef

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):20–33CrossRef

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):5–19CrossRef

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):72–76CrossRef

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):941–951CrossRef

10.

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):17–24CrossRef

11.

Schaffner SF (2004) The X chromosome in population genetics. Nat Rev Genet 5(1):43–51CrossRef

12.

Bustamante CD, Ramachandran S (2009) Evaluating signatures of sex-specific processes in the human genome. Nat Genet 41(1):8–10CrossRef

13.

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 11:926CrossRef

14.

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–e11CrossRef

15.

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):1655–1657CrossRef

16.

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 317:103–110CrossRef

17.

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–e49CrossRef

18.

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):253–255CrossRef

19.

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–e28CrossRef

20.

Mantel N (1967) The detection of disease clustering and a generalized regression approach. Cancer Res 27(2 Part 1):209–220PubMed

21.

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):564–567CrossRef

22.

Sumita DR, Whittle MR (2009) Updated allelic structures of the DXS10135 and DXS10078 STR loci. Forensic Sci Int Genet Suppl Ser 2(1):51–52CrossRef

23.

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):360–366CrossRef

24.

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):157–171CrossRef

25.

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):2409–2416PubMedPubMedCentral

26.

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–e3CrossRef

Title: Exploring the Western Mediterranean through X-chromosome
Authors: J. F. Ferragut
K. Bentayebi
A. Barbaro
M. Ramírez
A. Y. Saguillo
C. Ramon
A. Picornell
Publication date: 01-05-2021
Publisher: Springer Berlin Heidelberg
Published in: International Journal of Legal Medicine / Issue 3/2021
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI: https://doi.org/10.1007/s00414-020-02498-4

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