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The defining variants of these highlander-specific lineages may have played a role in the adaptation of all the individuals carrying them.
Among all the 36,914 sequences analyzed, 6,857 haplogroups contained at least 4 haplotypes and 3 samples, of which defining variants were also detected for pathogenic mutations.
Therefore, we searched the defining variants of the 22 highlander-specific lineages in the database of pathogenic mutations described in MITOMAP (updated on Jan, 8th, 2015, with synonymous and HVS mutations removed, 568 mutations in total) to identify mutations that may lead to radical changes in RNA or protein function.
We searched the defining variants of the 22 highlander-specific lineages in the database of pathogenic mutations described in MITOMAP (568 pathogenic mutations in total, updated on Jan, 8th, 2015, with synonymous and HVS mutations removed)35 to identify mutations that lead to radical changes in RNA or protein function.
In the absence of a biphasic skyline plot, we can calculate first approximations of the time necessary to generate the defining variants for the New World mithochondrial founding haplogroups.
As is evident from the calculations, there is a wide range of estimates for the time necessary to generate the New World defining variants, i.e. averages range from ∼6,000 to ∼25,000 years.
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The length of the CA microsatellite in the promoter has not only been implicated in transcription of PARP-1 but has also been described as the haplotype defining variant of the whole PARP-1 promoter polymorphism (Pascual et al, 2003).
Then one defines variants of other notions: the cartesian product, functions, etc.
We also provide an estimate for the duration of the period of population isolation required for the generation of New World founder haplogroup-defining variants.
The existence of mitochondrial New World-defining variants that are widespread throughout the Americas has been noted in numerous publications most recently [6], [12] and indicates that there must have been a period of isolation during which time these variants arose.
The screening for other structural variations revealed putative clade-defining variants.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com