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

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Figure 5.
Figure 5.

Transmission characteristics of heteroplasmies for novel versus polymorphic heteroplasmies. (A) Proportion of minor alleles observed in mothers that disappear entirely, decrease in frequency, or increase in frequency in the offspring for novel versus polymorphic heteroplasmies. (B) Distribution across genic regions of all heteroplasmies involving novel versus polymorphic heteroplasmies. (C) Distribution across genic regions for novel heteroplasmies that disappeared in the offspring [Novel(D)] compared to polymorphic heteroplasmies that disappeared in the offspring [Polymorphic(D)]. The MT-RNR1 and MT-RNR2 genes and the tRNA genes are overrepresented in the novel heteroplasmies.

This Article

  1. Published in Advance February 25, 2016, doi: 10.1101/gr.203216.115 Genome Res. 26: 417-426

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