Supplementary Figure Legends from Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies

Figure Legends for Supplementary Figures 1-6</p

Supplementary Figure 4 from Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies

Supplementary Figure 4 illustrates that mtDNA mutations of different mtDNA genes have varied predicted pathogenicity.</p

Supplementary Figure 5 from Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies

Supplementary Figure 5 illustrates that mtDNA mutations in the mtDNA hypermutated pediatric tumor samples tend to occur at low heteroplasmy levels and are more likely to be benign in nature.</p

Supplementary Figure 2 from Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies

Supplementary Figure 2 illustrates that individual tumor cells showing the same mtDNA variants at different heteroplasmy levels as exhibited by the bulk tumor samples.</p

Supplementary Figure 6 from Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies

Supplementary Figure 6 show the distributions of the heteroplasmy levels of mtDNA mutations, depending on the gene and the location affected.</p

Supplementary Figure 3 from Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies

Supplementary Figure 3 illustrates how the observed dN/dS ratio varies by the heteroplasmy.</p

Supplementary Tables from Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies

Supplementary Tables 1-18 shows 1) mtDNA mutations found in 616 pediatric cancer samples, 2) calculation of expected dN/dS ratio, 3) mtDNA mutations found in 2202 tumor samples studied by two previous studies, 4) the number of nuclear and mtDNA somatic mutations found in 134 randomly selected tumor samples, 5) mtDNA genome coverage for all tumor samples studies, 6) mtDNA genome coverage for all matched normal samples studies, 7) samples with low mtDNA coverage, 8) mtDNA genome coverage for non-cancer children, 9) mtDNA variants found in matched normal samples, 10) mtDNA variants found in non-cancer samples, 11) samples with known pathogenic mtDNA variants, 12) mitochondrial haplogroups for all patients studies, 13) number of cancer patients by mtDNA haplogroup, 14) number of patients of each haplogroup by cancer subtype, 15) permutation results from meta-analysis, 16) meta-analysis of long homopolymer regions, 17) meta-analysis results of mtDNA tRNA mutations, 18) mtDNA mutations found in 5 mtDNA hypermutated cancer samples.</p

Supplementary Figure 1 from Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies

Supplementary Figure 1 illustrates single-cell ATAC-seq data contains sufficient mtDNA reads for interrogating mtDNA variants.</p

Supplementary Table S1 from Genomic Analysis Using High-Density Single Nucleotide Polymorphism-Based Oligonucleotide Arrays and Multiplex Ligation-Dependent Probe Amplification Provides a Comprehensive Analysis of <i>INI1/SMARCB1</i> in Malignant Rhabdoid Tumors

Supplementary Table S1 from Genomic Analysis Using High-Density Single Nucleotide Polymorphism-Based Oligonucleotide Arrays and Multiplex Ligation-Dependent Probe Amplification Provides a Comprehensive Analysis of INI1/SMARCB1 in Malignant Rhabdoid Tumor

A novel <i>HSD17B10</i> mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression

<p>We report a Caucasian boy with intractable epilepsy and global developmental delay. Whole-exome sequencing identified the likely genetic etiology as a novel p.K212E mutation in the X-linked gene <i>HSD17B10</i> for mitochondrial short-chain dehydrogenase/reductase SDR5C1. Mutations in <i>HSD17B10</i> cause the HSD10 disease, traditionally classified as a metabolic disorder due to the role of SDR5C1 in fatty and amino acid metabolism. However, SDR5C1 is also an essential subunit of human mitochondrial RNase P, the enzyme responsible for 5′-processing and methylation of purine-9 of mitochondrial tRNAs. Here we show that the p.K212E mutation impairs the SDR5C1-dependent mitochondrial RNase P activities, and suggest that the pathogenicity of p.K212E is due to a general mitochondrial dysfunction caused by reduction in SDR5C1-dependent maturation of mitochondrial tRNAs.</p