Table 1.

MtDNA control region (CR) sequences of eleven maternally related family members and the mtDNA coding region (codR) sequence of individual IV.3. MtDNA CR sequences span rCRS (30) nucleotide positions (ntps) 16024–576 and were generated from blood, buccal, bone and intestinal tissue samples. The mtDNA codR sequence (ntps 577–16023) was generated from a blood sample of individual IV.3. by direct sequencing of PCR products. In buccal cells and the intestinal tissue the hg V mitotype (nested in hg HV0) was the quantitatively dominant type, whereas the hg U4c1 (U) mitotype was present as the minor component at the limit of detection for Sanger sequencing (<20%; Figure 1 and Supplementary Figure S3). In blood, the U mitotype generally exceeded the lower detection limits. Individuals IV.7, III.6 and I.2 showed only the V mitotype in blood, buccal cells and bone. Direct CR and full mitogenome long-range PCR Sanger sequencing of the DNA extracted from ρ° cells of individual III.4 exclusively yielded the U mitotype. Signature variants for hg estimation are color-coded: hg V (HV0) – blue; hg U (U4c1) – green