New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle East

The Alps are one of the most significant geographical barriers in Europe and several isolated Swiss and Italian valleys retain the distinctive Ladin and Romansch languages, alongside the modern majority of Italian and German languages. Linguistically, Ladin belongs to the Romance languages, but some studies on mitochondrial DNA (mtDNA) variation have suggested a major Middle Eastern component to their genealogical origin. Furthermore, an observed high degree of within-population diversity has been interpreted as reflecting long-standing differentiation from other European populations and the absence of a major bottleneck in Ladin population history. To explore these issues further, we examined Y chromosome and mtDNA variation in two samples of Ladin speakers, two samples of German speakers and one sample of metropolitan Italian speakers. Our results (1) indicate reduced diversity in the Ladin-speaking and isolated German-speaking populations when compared to a sample of metropolitan Italian speakers, (2) fail to identify haplotypes that are rare in other European populations that other researchers have identified, and (3) indicate different Middle Eastern components to Ladin ancestry in different localities. These new results, in combination with Bayesian estimation of demographic parameters of interest (population size, population growth rate, and Palaeolithic/Neolithic admixture proportions) and phylogeographic analysis, suggest that the Ladin groups under study are small genetically isolated populations (subject to strong genetic drift), having a predominantly European ancestry, and in one locality, may have a greater Palaeolithic component to that ancestry than their neighbours.

[1]  J. Gower Some distance properties of latent root and vector methods used in multivariate analysis , 1966 .

[2]  F. Sanger,et al.  Sequence and organization of the human mitochondrial genome , 1981, Nature.

[3]  B S Weir,et al.  Estimation of the coancestry coefficient: basis for a short-term genetic distance. , 1983, Genetics.

[4]  Nitin R. Patel,et al.  ALGORITHM 643: FEXACT: a FORTRAN subroutine for Fisher's exact test on unordered r×c contingency tables , 1986, TOMS.

[5]  M. Nei Molecular Evolutionary Genetics , 1987 .

[6]  Merritt Ruhlen,et al.  A Guide to the World''s Languages: Volume 1 , 1987 .

[7]  Josef Fontana Geschichte des Landes Tirol , 1990 .

[8]  G. Pellegrini La genesi del retoromanzo (o ladino) , 1991 .

[9]  L. Excoffier,et al.  Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. , 1992, Genetics.

[10]  M Slatkin,et al.  A measure of population subdivision based on microsatellite allele frequencies. , 1995, Genetics.

[11]  F. Rousset,et al.  AN EXACT TEST FOR POPULATION DIFFERENTIATION , 1995, Evolution; international journal of organic evolution.

[12]  G. Bertorelle,et al.  High mitochondrial sequence diversity in linguistic isolates of the Alps. , 1996, American journal of human genetics.

[13]  M. Jobling,et al.  Evaluation of Y-chromosomal STRs: a multicenter study , 1997, International Journal of Legal Medicine.

[14]  Francesc Calafell,et al.  Population Genetics of Y-Chromosome Short Tandem Repeats in Humans , 1997, Journal of Molecular Evolution.

[15]  G. Barbujani,et al.  Mitochondrial lineages in Ladin–speaking communities of the eastern Alps , 1998, Proceedings of the Royal Society of London. Series B: Biological Sciences.

[16]  C. Tyler-Smith,et al.  Network analyses of Y-chromosomal types in Europe, northern Africa, and western Asia reveal specific patterns of geographic distribution. , 1998, American journal of human genetics.

[17]  Hans-Jürgen Bandelt,et al.  Evolutionary Network Analysis of Word Lists: Visualising the Relationships between Alpine Romance Languages , 1998, J. Quant. Linguistics.

[18]  A. Torroni,et al.  The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs. , 1999, American journal of human genetics.

[19]  C. Tyler-Smith,et al.  Variation in short tandem repeats is deeply structured by genetic background on the human Y chromosome. , 1999, American journal of human genetics.

[20]  A. Torroni,et al.  Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations. , 1999, American journal of human genetics.

[21]  R J Mitchell,et al.  Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. , 2000, American journal of human genetics.

[22]  A. Di Rienzo,et al.  Tracing European founder lineages in the Near Eastern mtDNA pool. , 2000, American journal of human genetics.

[23]  D. Goldstein,et al.  Y chromosomes traveling south: the cohen modal haplotype and the origins of the Lemba--the "Black Jews of Southern Africa". , 2000, American journal of human genetics.

[24]  Mark George Thomas,et al.  America Past, America Present: Genes and Languages in the Americas and Beyond, The Genetic Origins of Old Testament Priests , 2000 .

[25]  M. Beaumont,et al.  Estimation of admixture proportions: a likelihood-based approach using Markov chain Monte Carlo. , 2001, Genetics.

[26]  H. Bandelt,et al.  Detecting errors in mtDNA data by phylogenetic analysis , 2001, International Journal of Legal Medicine.

[27]  N. Maca-Meyer,et al.  Major genomic mitochondrial lineages delineate early human expansions , 2001, BMC Genetics.

[28]  P. Forster,et al.  An annotated mtDNA database , 2001, International Journal of Legal Medicine.

[29]  R. Villems,et al.  Continental and subcontinental distributions of mtDNA control region types , 2002, International Journal of Legal Medicine.

[30]  Mark G. Thomas,et al.  Armenian Y chromosome haplotypes reveal strong regional structure within a single ethno-national group , 2001, Human Genetics.

[31]  Lounès Chikhi,et al.  Y genetic data support the Neolithic demic diffusion model , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[32]  Mark G Thomas,et al.  Y chromosome evidence for Anglo-Saxon mass migration. , 2002, Molecular biology and evolution.

[33]  Alexei J Drummond,et al.  Estimating mutation parameters, population history and genealogy simultaneously from temporally spaced sequence data. , 2002, Genetics.

[34]  D. Goldstein,et al.  Founding mothers of Jewish communities: geographically separated Jewish groups were independently founded by very few female ancestors. , 2002, American journal of human genetics.

[35]  H. Bandelt,et al.  The fingerprint of phantom mutations in mitochondrial DNA data. , 2002, American journal of human genetics.

[36]  A. Redd,et al.  A nomenclature system for the tree of human Y-chromosomal binary haplogroups. , 2002, Genome research.

[37]  G. Bertorelle,et al.  Mitochondrial Diversity in Linguistic Isolates of the Alps: A Reappraisal , 2002, Human biology.

[38]  David J. Balding,et al.  Inferences from DNA data: population histories, evolutionary processes and forensic match probabilities , 2003 .

[39]  D. Goldstein,et al.  A Y Chromosome Census of the British Isles , 2003, Current Biology.

[40]  C. Flores,et al.  The place of the Basques in the European Y-chromosome diversity landscape , 2005, European Journal of Human Genetics.

[41]  H. Kishino,et al.  Dating of the human-ape splitting by a molecular clock of mitochondrial DNA , 2005, Journal of Molecular Evolution.

[42]  I. Pichler,et al.  Population Isolates in South Tyrol and Their Value for Genetic Dissection of Complex Diseases , 2006, Annals of human genetics.

[43]  G. Barbujani,et al.  Origins and evolution of the Europeans' genome: evidence from multiple microsatellite loci , 2006, Proceedings of the Royal Society B: Biological Sciences.