jirovecii typing, it did not provide evidence for or against features such as diploidy or mitochondrial heteroplasmy
There is typically heteroplasmy
with a mixture of wild-type and mutated mtDNA, and the mutations are acting in a recessive (loss of function) way.
Because the tandem repeat motif "CGTGCGTACA" could cause heteroplasmy
, we removed them out the mitogenome sequence before analysis.
Mosaicism and low levels of heteroplasmy
for mitochondrial DNA variants may not be detected, depending on the depth of sequence coverage and limit of detection that is validated.
One of the surprises as more sequencing information became available was the discovery of very high levels of heteroplasmy
within the mitochondrial genome of the blue crab (Feng et al.
Mitochondrial control region structure and single site heteroplasmy
in the razorbill (Alca torda; Aves).
Kang AR, Kim MJ, Park IA, Kim KY, Kim I (2016) Extent and divergence of heteroplasmy
of the DNA barcoding region in Anapodisma miramae (Orthoptera: Acrididae).
According to previous studies, the size of the deletion, the deletion heteroplasmy
level in skeletal muscle, and the location of the deletion were significantly correlated with age at onset of symptoms and progression of disease burden in KSS and other mtDNA deletion syndromes.
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
Mitochondrial DNA in the Bark Weevils: size, structure and heteroplasmy
The complete mitochondrial DNA sequence of the horse, Equuscaballus: Extensive heteroplasmy
of the control region.
In simple terms, homoplasmy is when all copies of the mitochondrial genome in a given cell/tissue/organ are identical, and heteroplasmy
is when there is a mixture of two or more mitochondrial genotypes.