title: Mitochondrial diversity in linguistic isolates of the Alps: a reappraisal.
abstract: In Stenico et al. (1996) we reported unusually high levels of mitochondrial diversity in the Alps. In particular, two communities of Ladin speakers appeared the most extreme European mitochondrial outliers at that time. Recently, it has been observed that some rare nucleotide substitutions occur repeatedly among those sequences, raising the possibility of systematic sequencing errors. No biological material was left from the previous study, and hence we had to sample new individuals from the same communities. Here, we present the HVSI sequence variation, along with haplogroup assignment based on restriction fragment length polymorphism (RFLP), in 20 Ladin speakers of Colle Santa Lucia. None of the new sequences displays substitutions at the sites viewed as problematic. However, Ladins still show high levels of mtDNA diversity, both within their community and with respect to other Europeans, and they can still be considered one of the main European mitochondrial outliers.
authors.affiliation: Dipartimento di Biologia, Università di Ferrara, Ferrara, Italy.
authors.forename: Cristiano
authors.initials: C
authors.lastname: Vernesi
authors.forename: Silvia
authors.initials: S
authors.lastname: Fuselli
authors.forename: Loredana
authors.initials: L
authors.lastname: Castrì
authors.forename: Giorgio
authors.initials: G
authors.lastname: Bertorelle
authors.forename: Guido
authors.initials: G
authors.lastname: Barbujani
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D005060:Europe; D018703:Founder Effect; D005787:Gene Frequency / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D005828:Genetics, Population; D005843:Geography; D006239:Haplotypes; D006801:Humans; D007558:Italy; D007802:Language; D010802:Phylogeny; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D013557:Switzerland
chemical_list: D004272:DNA, Mitochondrial