When RNA-derived and DNA-derived heteroplasmy disagree
by Luca Senn
Single-cell transcriptomic heteroplasmy and bulk DNA heteroplasmy can differ even in the same tissue. The former depends on mitochondrial transcript abundance, allele-specific expression, cell state, and per-site coverage; the latter averages DNA molecules across the sampled cell mixture.
For the single-cell study, were variant fractions compared with matched DNA measurements from the same tissue or cell populations? Cells lacking coverage should also remain distinct from cells in which the alternate allele was assayed but not detected. Discordant RNA and DNA estimates could reflect biological expression differences, cell composition, or measurement thresholds, and those explanations are not interchangeable.
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