Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.

ABSTRACT: 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 evidence from human pedigrees points towards a random drift process underlying the shifting heteroplasmy, some reports describe differences in segregation pattern between different mtDNA mutations. However, based on limited observations and with no direct comparisons, it is not clear whether these observations simply reflect pedigree ascertainment and publication bias. To address this is

SUBMITTER: Wilson IJ 

PROVIDER: S-EPMC4754047 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature