title: Independent methods for evolutionary genetic dating provide insights into Y-chromosomal STR mutation rates confirming data from direct father-son transmissions.
abstract: Five datasets consisting of samples jointly typed for Y-chromosomal Unique Event Polymorphism (UEP) and simple tandem repeat (STR) markers were re-examined with independent methods for dating the different UEP-defined lineages. We report on the results obtained with an original program which performs comparative dating (BARCODE) in comparison with coalescent analyses performed with BATWING under various prior conditions. For the first time these are equalized across datasets. We also report on the results concerning STR mutability as obtained with both methods. The dating results for the entire series of sub-haplogroups are highly correlated. Within coalescent analyses, dating-estimates under a wide range of priors tend to converge. As to STR mutation rates the main findings are: (1) large variations among loci within the same dataset with both methods, also when the same prior was used for all loci; (2) figures in most cases above 1x10(-3) and often above 2x10(-3); (3) a few loci that mutate differently across studies. These results closely match those obtained from direct observation of father-son transmissions. Overall, this work supports the use of genetic dating procedures that take into account the complexity of the phenomenon, with a repertoire of priors tailored on the particular dataset.
authors.affiliation: Department of Cell Biology, University of Calabria, via P. Bucci, 87030, Rende, Italy. f.luca@unical.it
authors.forename: Francesca
authors.initials: F
authors.lastname: Luca
authors.forename: M
authors.initials: M
authors.lastname: Basile
authors.forename: F Di
authors.initials: FD
authors.lastname: Giacomo
authors.forename: A
authors.initials: A
authors.lastname: Novelletto
mesh_terms: D041322:Chromosomes, Human, Y / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D030541:Databases, Genetic; D019143:Evolution, Molecular; D006801:Humans; D008297:Male; D008957:Models, Genetic; D009154:Mutation; D011110:Polymorphism, Genetic; D040641:Quantitative Trait Loci; D012984:Software; D020080:Tandem Repeat Sequences / Q000235:genetics*