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One of the indica/aus-specific derived variants corresponds to a 69 bp deletion (#6) which is widely used to differentiate japonica (ancestral, non-deletion type) from indica/aus (derived, deletion type) in phylogenetic studies (Kanno et al. 1993; Garris et al. 2005).
We also suggest to teachers that this is a good place in the discussion to introduce or reinforce the idea that the tree depicts more closely related individuals as sharing more recently derived variants in the DNA sequences or inherited characters than more distant relatives.
Iversen et al. [18] measured IFNγ secretion by T cells specific for SLYNTVATL (SYL9), when they are stimulated with naturally occurring (i.e, patient derived) variants of SYL9.
A negative HFW indicates an excess of high frequency derived variants and an asymmetrical (unbalanced) tree which is typical of the spread of selectively favored mutations on a partially linked locus [49].
Although Tajima's D and HKA tests were not significant, the Fay and Wu's H test which is designed to be sensible to an excess of high frequency derived variants was significantly different from zero (H = −8.52, P = 0.04).
DNA diversity level among human sequences was measured using the program DnaSP to yield four mutation parameters: haplotype diversity Hd [60] equivalent to gene heterozygosity, nucleotide diversity π [61] measuring the average number of pairwise differences, Watterson's θ-W [62] based on the number of segregating sites, and θ-H [63] weighting the presence of high-frequency derived variants.
Similar(29)
To get a more comprehensive view of these frequency differences, we also present the frequency spectrum of the derived variant of polymorphic insertions and deletions.
Restricting the data to variation with only two variants where one of them is the same as the variant found in the outgroup (see above), the frequency of the derived variant was calculated by dividing the count of the derived variant by the total number of identified variants.
We used the data from the EHH analysis of the 864 Dutch individuals to obtain a crude estimate of the age of expansion of the derived variant as a result of recent selection, the so-called selective sweep.
In all four cases, NANOG carries the ancestral nucleotide, and the derived variant is in NANOGP8 (Table 2).
The maternally derived variant was a nonsense mutation in exon 19 causing truncation of the protein (c.3417_3418insTA; p.Lys1140X).
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