Article Title: Genome wide mitochondrial DNA sequence variations and lower expression of OXPHOS genes predict mitochondrial dysfunction in oral cancer tissue

Journal name: Tumor Biology

Authors: Esita Chattopadhyay, Navonil De Sarkar1, Richa Singh, Anindita Ray, Roshni Roy, Ranjan Rashmi Paul2, Mousumi Pal2, Sandip Ghose3, Subhrendu Ghosh4, Debajyoti Kabiraj4, Raja Banerjee4,5 and Bidyut Roy*

Address and corresponding author: Bidyut Roy, Human Genetics, Unit, Indian Statistical Institute, 203 BT Road, Kolkata 700108, India. +91-33-25753213,

Supplementary Table 2: Distribution of variations in control regions of D-loop in cancer tissues

D-loop positions / Nucleotide change / Type of variation / No. of patients having the SNPs / Functional region
16 / A>T / SNP / 1 / 7S DNA
73 / A>G / SNP / 8 / HVS2, 7S DNA
89 / T>C / SNP / 1 / HVS2, 7S DNA
93 / A>G / SNP / 1 / HVS2, 7S DNA
114 / C>A / SNP / 1 / HVS2, OHR
150 / C>T / SNP / 3 / HVS2, OHR, 7S DNA
152 / T>C / SNP / 3 / HVS2, OHR, 7S DNA
195 / T>C / SNP / 1 / HVS2, OHR
199 / T>C / SNP / 2 / HVS2, OHR
204 / T>C / SNP / 1 / HVS2, OHR
207 / G>A / SNP / 1 / HVS2, OHR
228 / G>A / SNP / 1 / HVS2, OHR, CSB1
234 / A>G / SNP / 1 / HVS2, OHR, CSB1, TFX
263 / A>G / SNP / 8 / HVS2, OHR
373 / A>G / SNP / 1 / MT-4H
482 / T>C / SNP / 2 / HVS3
483 / C>T / SNP / 1 / HVS3
489 / T>C / SNP / 4 / HVS3
575 / C>T / SNP / 1 / -
16051 / A>G / SNP / 5 / HVS1
16126 / T>C / SNP / 1 / HVS1, 7S DNA
16129 / G>A / SNP / 3 / HVS1, 7S DNA
16145 / G>A / SNP / 1 / HVS1, 7S DNA
16168 / C>T / SNP / 1 / HVS1, 7S DNA, TAS
16189 / T>C / SNP / 1 / HVS1, 7S DNA
16223 / C>T / SNP / 4 / HVS1, 7S DNA
16224 / T>C / SNP / 1 / HVS1, 7S DNA
16234 / C>T / SNP / 2 / HVS1, 7S DNA
16247 / A>G / SNP / 1 / HVS1, 7S DNA
16254 / A>G / SNP / 1 / HVS1, 7S DNA
16266 / C>T / SNP / 1 / HVS1, 7S DNA
16290 / C>T / SNP / 1 / HVS1, 7S DNA
16311 / T>C / SNP / 1 / HVS1, 7S DNA
16318 / A>G / SNP / 1 / HVS1, 7S DNA
16320 / C>T / SNP / 1 / HVS1, 7S DNA
16357 / T>C / SNP / 1 / HVS1, 7S DNA
16362 / T>C / SNP / 1 / HVS1, 7S DNA
16363 / C>T / SNP / 1 / HVS1, 7S DNA
16519 / T>C / SNP / 5 / 7S DNA
16540 / C>T / Somatic mutation / 1 / 7S DNA

NT: Nucleotide; HVS1: Hypervariable segment 1; HVS2: Hypervariable segment 2; HVS3: Hypervariable segment 3; OHR: H-strand origin; CSB1: Conserved sequence block 1; TFX: mitochondrial transcription factor 1 binding site; MT-4H: mt4 H strand control element; TAS: Termination associated sequence