To give rise to the data observed in the present, the lineages
of the derived alleles must coalesce among each other before they coalesce to any non-derived lineage.
We did not find significant differences or deviations in a consistent direction in the frequency
of derived alleles in islands of divergence within O. c. cuniculus or in either subspecies when defining differentiation based on the proportion of fixed differences versus shared polymorphisms (Figure 3); however, intervals of high FST in O. c. algirus did show a significant skew towards high frequency derived alleles.
For each polymorphic site observed in a given horse sample, we defined the ancestral state using the donkey sequence data and computed a measure of genetic load as the product of the GERP score at each site and the number
of derived alleles carried by this individual at this site, averaged across sites for each individual.
We disregarded CGG10023, due to insufficient genome coverage and high error rate, and Twilight, which represents the Thoroughbred horse used for generating the EquCab2.0 assembly and is therefore expected to show a strong deficit
of derived alleles.
Arrow indicates the first appearance
of the derived allele at position 10,218, distinguishing clusters 2 and 3.
Not exact matches
Every gene in (almost) every cell
of the body is present in two variants — so called
alleles: one is
deriving from the mother, the other one from the father.
So, if a gene lies within a gene - dense, low - recombination region, then this means that a much larger number
of progeny from crosses must be examined to find those that
derive from rare recombinational events that separate the desired new
allele from undesirable forms
of neighboring genes.
As expected, European dogs share more
derived alleles with the ancient dogs than Indian village dogs, with ratios
of 1.186 — 1.217 for HXH and 1.195 — 1.231 for NGD (Supplementary Table 17).
The RNAi - mediated silencing
of both HTT
alleles in neural stem cells
derived from hESCs disrupted spindle orientation and led to the mislocalization
of dynein, the p150Glued subunit
of dynactin and the large nuclear mitotic apparatus (NuMA) protein.
«The most surprising and interesting part is that the authors detected
derived alleles in pathogen resistance genes,» commented Albert Zink, director
of the Institute for Mummies and the Iceman in Bolzano, Italy.
Finally,
allele - specific expression indicates that expression
of one
of the three NCAM genes has a two-fold reduction in expression when linked to the
derived «sand»
allele at the CNE.
It follows from the last point above that the vast majority
of common human genetic variation, i.e. SNPs with
derived allele frequencies
of at least 5 %, is neutral or nearly neutral with respect to fitness.
This locus contains a conserved non-coding element (CNE) upstream
of three neuronal cell adhesion molecule (NCAM) genes, where the
derived «sand»
allele appears to disrupt a neuronal transcription factor binding motif.
«One important insight stems from the observation that modern non-Africans and archaic populations share more
derived alleles than they should if there was no admixture between them,» Bohlender said, citing that sequencing
of complete Neanderthal and Denisovan genomes offers insights into human history.
Indeed, several admixture scenarios [44], [45] and selection at linked sites are expected to generate an excess
of high frequency
derived alleles, but the observation that most islands
of differentiation are not enriched for high frequency
derived alleles suggests that selection at linked sites is likely to have a relatively small contribution overall to the occurrence
of areas
of high differentiation.
Quantitative PCR analysis was carried out to monitor levels
of mRNA
derived from both targeted and untargeted
alleles of Hex (1f, 2r) or targeted
allele only (Bf, 1r).
By analyzing imputed data for a large number
of human traits, we empirically
derive a model that more accurately describes how heritability varies with minor
allele frequency (MAF), linkage disequilibrium (LD) and genotype certainty.
The gain -
of - function sup - 10 (n983)
allele [51] confers a rubberband phenotype with focus
of action in body wall muscles [52]; the focus
of action
of daf - 6 is in the amphid and phasmid sheath cells that
derive from ABp [53], and daf - 6 animals are defective in the dye - filling (Dyf phenotype)
of sensory neurons associated with these structures.
Although the newest edition
of the authoritative textbook, Vitamin D, claims that in humans calcidiol binds with equal affinity to the DBP whether it is
derived from vitamin D2 or vitamin D3, 37 the citation for this statement is the author's own PhD thesis, in which he reported results obtained from testing the DBP
of a mere two people.48 Since the gene for the DBP is one
of the most polymorphic known (meaning it exists in many forms), existing in three common
alleles and 124 known rarer
alleles (
alleles are specific forms
of the same gene), each
allele itself having many polymorphisms, 37 a sample size
of two is rather unconvincing.
The Role
of the Met66 Brain -
Derived Neurotrophic Factor
Allele in the Recovery
of Executive Functioning after Combat - Related Traumatic Brain Injury
Association
of the paternally transmitted copy
of common valine
allele of the Val66Met polymorphism
of the brain -
derived neurotrophic factor (BDNF) gene with susceptibility to ADHD
No evidence for preferential transmission
of common valine
allele of the Val66Met polymorphism
of the brain -
derived neurotrophic factor gene (BDNF) in ADHD