A hypervariable region (HVR) is a location within nuclear DNA or the D-loop of mitochondrial DNA in which base pairs of nucleotides repeat (in the case of nuclear DNA) or have substitutions (in the case of mitochondrial DNA). Changes or repeats in the hypervariable region are highly polymorphic.
There are two mitochondrial hypervariable regions used in human mitochondrial genealogical DNA testing. HVR1 is considered a "low resolution" region and HVR2 is considered a "high resolution" region. Getting HVR1 and HVR2 DNA tests can help determine one's haplogroup. HVR1 locations are numbered 16001-16568. HVR2 locations are numbered 001-574.
In some bony fishes, for example certain Protacanthopterygii and Gadidae, the mitochondrial control region evolves remarkably slowly. Even functional mitochondrial genes accumulate mutations faster and more freely. It is not known whether such hypovariable control regions are more widespread. In the Ayu (Plecoglossus altivelis), an East Asian protacanthopterygian, control region mutation rate is not markedly lowered, but sequence differences between subspecies are far lower in the control region than elsewhere. This phenomenon completely defies explanation at present.
- Cambridge Reference Sequence
- Genealogical DNA test
- Human mitochondrial DNA haplogroup
- mtDNA control region
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