Although individual humans (and all diploid organisms) can only have two alleles for a given gene, multiple alleles may exist at the population level such that many combinations of two alleles are observed. Note that when many alleles exist for the same gene, the convention is to denote the ...
Finally, sequence comparison of the locus within populations and between species revealed a common origin of the allele controlling the blotched morph followed by a pattern of sequential appearance of derived alleles that gave rise to morph diversity. The coupling of the evolutionary history of this...
In this scenario, expression of the translocation allele dominates the expression landscape, and the RNA VAF reflects the proportion of translocation alleles with the FGFR3 mutation. Fig. 5: t(4;14) WHSC1 and FGFR3 expression and survival patterns. a Coexpression of WHSC1 and FGFR3, ...
Both alleles act by allowing for optimal binding in their own HLA pocket, resulting in antigen presentation in the former, and enhancement of CD8 activity due to cross-stimulation of myelin-reactive T-cell receptor in the latter. The imbalance between genes induces susceptibility to getting sick ...
In our ancestry path analysis, a substantial fraction of the fine-mapped MS-associated variants were not imputed in our ancient dataset, owing to quality-control filtering and the difficulty of accurately inferring HLA alleles in ancient samples18. To address this, we LD pruned genome-wide-signifi...
Alleles that confer multiple disease resistance (MDR) are valuable in crop improvement, although the molecular mechanisms underlying their functions remain largely unknown. A quantitative trait locus, qMdr 9.02 , associated with resistance to three important foliar maize diseases-southern leaf blight, gra...
Similarity in temperament between mother and offspring rhesus monkeys: Sex differences and the role of monoamine oxidase‐a and serotonin transporter promo... canonical correlations, whereas those possessing other alleles did not, suggesting differential genetic sensitivity to the normative early experience...
found that the minor alleles of rs2242652 and rs10069690, respectively, increase silencing and generate a truncated TERT splice variant,12 an observation that, again, is consistent with a down-regulatory effect of the polymorphism on the gene expression and activity. It is difficult to answer ...
[121], whereas the majority of patients in a Korean population had repeat expansions inTBP(TATA-box binding protein) (corresponding to SCA-17) [122]. It is unclear if the larger number of CAG repeats in normal alleles ofATXN1andATXN2amongst Caucasians is a contributory factor [123]. These...
Multiple sclerosis (MS) is the most common chronic inflammatory, demyelinating and neurodegenerative disease of the central nervous system in young adults. This disorder is a heterogeneous, multifactorial, immune-mediated disease that is influenced by bo