The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool - PubMed (original) (raw)

Most-parsimonious tree of complete (pre-HV)1, HV*, HV1, pre-V, and H mtDNA sequences. The tree, rooted in haplogroup R, includes 62 mtDNAs (1–62) sequenced in this study and illustrates subhaplogroup affiliations. Phylogeny construction was performed by hand, following a parsimony approach, and was confirmed by use of the program Network 4.0. We have applied the reduced median algorithm (

_r_=2

) (Bandelt et al. 1995), followed by the median-joining algorithm (

ɛ=0

) (Bandelt et al. 1999) and the MP (maximum parsimony) calculation option, as explained at the Fluxus Engineering Web site. For the phylogeny construction, half weight was assigned to the control-region positions, and the pathological mutations 1555, 3460, and 13513 (shown in italics) were excluded. Mutations are shown on the branches; they are transitions, unless the base change is explicitly indicated. Deletions are indicated by a “d” preceding the deleted nucleotides. Insertions are indicated by a “+” preceding the inserted nucleotide(s). Heteroplasmy is indicated by an “h” following the nucleotide position. Underlining indicates recurrent mutations, whereas mutations in boldface are diagnostic of the haplogroup/subhaplogroup. The asterisk (*) indicates the most recent common ancestor of the H mtDNAs. This differs from the reference sequence (Andrews et al. 1999), which belongs to H2, by mutations at the following positions: 263, 315+C, 750, 1438, 4769, 8860, and 15326. The variation in number of Cs at np 309 was not included in the phylogeny (mtDNAs 1, 4, 8, 12, 15, 24, 26, 29, 31–32, 34–35, 37, 39, 41, 45–48, 56, and 58–62 harbored 309+C, whereas the mtDNAs 2–3, 5–7, 14, 17–18, 20, 42, 53, and 57 harbored 309+CC). mtDNAs 2, 4–8, 10–21, 23, 25–31, 33, 35–37, 39–44, 46–47, 49, 51, and 54–62 are from Italian subjects; 9, 24, 45, 48, 50, and 52 are from Spanish subjects; 32 and 53 are from Georgian subjects; 22 and 38 are from Iraqi subjects; 1 is from a Sindhi (Pakistan); 3 is from a Druze subject; and 34 is from a Berber of Egypt.