Extended Data Fig. 7: Recurrent mtDNA D-loop amplification and host co-infection in CedBTN.
From: Somatic evolution of marine transmissible leukemias in the common cockle, Cerastoderma edule
a, Sequence read depth along the mitochondrial genome in representative samples from four CedBTN mtDNA lineages, showing the independent mtDNA amplifications identified in three mtDNA lineages within CedBTN1. A sample from BTN2-HT2 (top) is shown as representative of the read depth distribution in CedBTN2 samples. Amplification lengths are indicated. b, Schematic representation of the three mtDNA amplification events, two of which share the same start coordinate. Identity among the start sequences is marked by underlining, while overlapping microhomology at the boundaries of two of the amplified regions is highlighted in bold. c, Diagonal plots of position along long sequence reads (Oxford Nanopore) against mtDNA coordinate, showing the number of copies gained in each mtDNA lineage (duplication in BTN1-HT1, triplication in BTN1-HT4 and BTN1-HT5). d, mtDNA allele frequency plots evidencing the presence of two tumor mtDNA haplotypes (green/yellow) and one host haplotype (gray) in hemolymph (left) and adductor muscle (right) samples from three cockles presenting evidence of co-occurrence of multiple CedBTN lineages (top to bottom: ENCE17/4528, PACE17/970, EICE18/910; Supplementary Table 10). Each dot represents a mitochondrial SNV. Identified tumor mtDNA haplotypes are labeled as in Fig. 2a. As expected, tumor and host mtDNA haplotypes present lower and higher allele frequencies, respectively, in adductor muscle compared to hemolymph.
