Article
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.
Human molecular genetics - 1 Mar 2016
Wilson Ian J, Carling Phillipa J, Alston Charlotte L, Floros Vasileios I, Pyle Angela, Hudson Gavin, Sallevelt Suzanne C E H, Lamperti Costanza, Carelli Valerio, Bindoff Laurence A, Samuels David C, Wonnapinij Passorn, Zeviani Massimo, Taylor Robert W, Smeets Hubert J M, Horvath Rita, Chinnery Patrick F
Abstract excerpt
With a combined carrier frequency of 1:200, heteroplasmic mitochondrial DNA (mtDNA) mutations cause human disease in ∼1:5000 of the population. Rapid shifts in the level of heteroplasmy seen within a single generation contribute to the wide range in the severity of clinical phenotypes seen in families transmitting mtDNA disease, consistent with a genetic bottleneck during transmission. Although preliminary...
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