Abstract
The haplotypes at four polymorphic loci of theY chromosome were determined in 245 Caucasian males from 12 subpopulations. The data show that haplotype radiation occurred among Caucasians. Haplotype radiation was accompanied by recurrent mutations at STR loci that caused partial randomization of haplotype structure. The present distribution of alleles at short tandem repeats (STRs) can be explained by a mutation pattern similar to those described for autosomal STRs. The degree of variation among groups of subpopulations was assayed by using the Analysis of Molecular Variance. The results confirm a faster divergence of the Y chromosome as compared to the rest of the genome.
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References
Barbujani G, Sokal RR (1990) Zones of sharp genetic change in Europe are also linguistic boundaries. Proc Natl Acad Sci USA 87:1816–1819
Barbujani G, Sokal RR (1991) Genetic population structure of Italy II. Physical and cultural barriers to gene flow. Am J Hum Genet 48: 398–411
Bowcock AM, Kidd JR, Mountain JL, Herbert JM, Carotenuto L, Kidd KK, Cavalli-Sforza LL (1991) Drift, admixture and selection in human evolution: a study with DNA polymorphisms. Proc Natl Acad Sci USA 88:839–843
De Leo R, Deidda G, Novelletto A, El-Kalla S, Mathews A, Felicetti L (1995) Analysis of beta-thalassemia mutations in the United Arab Emirates provides evidence for recurrent origin of the IVS1 nt 5 (G-C) mutation. Hum Mutat (in press)
Di Rienzo A, Peterson AC, Garza JC, Valdes AM, Slatkin M, Freimer NB (1994) Mutational processes of simple sequence repeat loci in human populations. Proc Natl Acad Sci USA 91:3166–3170
Ellis N, Taylor A, Bengtsson BO, Kidd J, Rogers J, Goodfellow P (1989) Population structure of the pseudoautosomal boundary. Nature 344:663–665
Ellis N, Kidd J, Goodfellow PJ, Kidd J, Goodfellow PN (1990) Strong linkage disequilibrium between the XY274 polymorphism and the pseudoautosomal boundary. Am J Hum Genet 46:950–955
El-Kalla S, Mathews AR (1993) Molecular characterization of betathalassemia in the United Arab Emirates. Hemoglobin 17:355–362
Excoffier L, Smouse PE, Quattro JM (1992) Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. Genetics 131:479–491
Excoffier L, Smouse PE (1994) Using allele frequencies and geographic subdivision to reconstruct gene trees within a species: molecular variance parsimony. Genetics 136:343–359
Frontali M, Iodice C, Lulli P, Spadaro M, Cappellacci S, Giumi P, Malaspina P, Morellini M, Morocutti C, Novelletto A, Persichetti F, Trabace S, Anastasi R, Terrenato L (1991) Spinocerebellar ataxia SCAI in two large Italian kindreds: evidence in favour of a locus position distal to GLOI and the HLA cluster. Ann Hum Genet 55:7–15
Hammer MF (1994) A recent insertion of an Alu element on the Y chromosome is a useful marker for human population studies. Mol Biol Evol 11:7–15
Hammer MF, Horai S (1995) Y chromosomal DNA variation and the peopling of Japan. Am J Hum Genet 56:951–962
Jakubiczka S, Arnemann J, Cooke HJ, Krawczak M, Schmidtke J (1989) A search for restriction fragment length polymorphism on the human Y chromosome. Hum Genet 84:86–88
Malaspina P, Persichetti F, Novelletto A, Iodice C, Terrenato L, Wolfe J, Ferraro M, Prantera G (1990) The human Y chromosome shows a low level of DNA polymorphism. Ann Hum Genet 54:297–305
Mathias N, Bayes M, Tyler-Smith C (1994) Highly informative compound haplotypes for the human Y chromosome. Hum Mol Genet 3:115–123
Ngo KY, Vergnaud G, Johnsson C, Lucotte C, Weissenbach J (1986) A DNA probe detecting multiple haplotypes on the human Y chromosome. Am J Hum Genet 38:407–418
Persichetti F, Blasi P, Hammer M, Malaspina P, Jodice C, Terrenato L, Novelletto A (1992) Disequilibrium of multiple DNA markers on the human Y chromosome. Am Hum Genet 56:303–310
Piazza A, Cappello N, Olivetti E, Rendine S (1988) A genetic history of Italy. Ann Hum Genet 52:203–213
Roewer L, Arnemann J, Spurr NK, Grzeschik KH, Epplen IT (1992) Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts. Hum Genet 89:389–394
Santos FR, Peña SDJ, Epplen JT (1993) Genetic and population study of a Y-linked tetranucleotide repeat DNA polymorphism with a simple non-isotopic technique. Hum Genet 90:655–656
Seielstad MT, Hebert JM, Lin AA, Underhill PA, Ibrahim M, Vollrath D, Cavalli-Sforza LL (1994) Construction of human Y-chromosomal haplotypes using a new polymorphic A to G transition. Hum Mol Genet 3:2159–2161
Shimmin LC, Chang BH-J, Li W-H (1993) Male-driven evolution of DNA sequences. Nature 362:745–747
Spurdle AB, Hammer MF, Jenkins T (1994) The Y Alu polymorphism in Southern African population and its relationship to other Y-specific polymorphisms. Am J Hum Genet 54:319–330
Spurdle AB, Jenkins T (1992) The Y chromosome as a tool for studying human evolution. Curr Opin Genet Dev 2:487–491
Tyler-Smith C, Brown WRA (1987) Structure of the major alphoid satellite DNA on the human Y chromosome. J Mol Biol 195:457–470
Weber JL, Wong C (1993) Mutation in human short tandem repeats. Hum Mol Genet 2:1123–1128
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Correspondence to: A. Novelletto
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Ciminelli, B.M., Pompei, F., Malaspina, P. et al. Recurrent simple tandem repeat mutations during human Y-chromosome radiation in Caucasian subpopulations. J Mol Evol 41, 966–973 (1995). https://doi.org/10.1007/BF00173177
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DOI: https://doi.org/10.1007/BF00173177