Skeleton of the global C1b phylogeny.
The C1b1i clade represented by the haplotype found in the Inca mummy is also located in the phylogeny. There is one mitogenome (JX413043) that belongs to haplogroup C1b13b sampled in a Spanish individual, although born in Talagante (Chile); therefore we labeled it here as originating in America. TMRCA are indicated above haplogroup labels. An asterisk to the right of the haplogroup labels identifies sub-clades that were newly identified in this study, compared to the last version of Phylotree (Build 16). The position of the revised Cambridge reference sequence (rCRS) is indicated for reading sequence motifs17. Mitochondrial DNA variants are indicated along the branches of the phylogenetic tree. Mutations are transitions unless a suffix A, C, G, or T indicates a transversion. Other suffixes indicate insertions (+), synonymous substitution (s), mutational changes in tRNA (−t), mutational changes in rRNA (−r), noncoding variant located in the mtDNA coding region (−nc) and an amino acid replacement (indicated in round brackets). Variants underlined represent recurrent mutations in this tree, while a prefix ‘@’ indicates a back mutation. Mutational hotspot variants at positions 16182, 16183 and 16519, as well as variation around position 310 and length or point heteroplasmies were not considered for the phylogenetic reconstruction. The numbers in small squares attached above haplogroup labels indicate the number of occurrences (mitogenomes) of the corresponding haplogroups available in the public domain (literature and/or GenBank); the color of the squares indicates their geographic origin according to the legend inset. More details on the geographic or ethnic origin of all the mitogenomes used in this network are provided in Supplemental Data Table S1. The bottom-right inset shows a network of HVS-I sequences that potentially belong to haplogroup C1bi (left) and a map of South America showing their geographic location (right). The map was built using a blank map based on GPS coordinates and the SAGA v. 2.1.1 (http://www.saga-gis.org/; see methods).