Mingkun Li; Rebecca Rothwell; Martijn Vermaat; Manja Wachsmuth; Roland Schröder; Jeroen F.J. Laros; Mannis van Oven; Paul I.W. de Bakker; Jasper A. Bovenberg; Cornelia M. van Duijn; Gert-Jan B. van Ommen; P. Eline Slagboom; Morris A. Swertz; Cisca Wijmenga; Genome of the Netherlands Consortium; Manfred Kayser; Dorret I. Boomsma; Sebastian Zöllner; Peter de Knijff; Mark Stoneking; Genome of the Netherlands Consortium; Manfred Kayser; Dorret I. Boomsma; Sebastian Zöllner; Peter de Knijff; Mark Stoneking

Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck

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Figure 1.

Minor allele frequency (MAF) changes between mothers and offspring. Red arrows indicate cases in which the MAF changed significantly between mother and offspring (P < 0.00001, Fisher's exact test). (A) MAF change for heteroplasmies detectable in both mothers and offspring. (B) MAF change for heteroplasmies detected in offspring but not in mothers. (C) MAF change for heteroplasmies detected in mothers but not in offspring. (D) Summary of the MAF changes observed for all heteroplasmies.