Systemic lupus erythematosus is inherited as a complex polygenic trait. Four genomic intervals containing major SLE-susceptibility loci were previously identified by interval mapping in the NZM2410 mouse model. In this paper, we utilized a marker-assisted selection protocol to produce four congenic mouse strains, each carrying an NZM2410-derived SLE-susceptibility interval on a C57BL/6-resistant background. Each strain carries only one susceptibility allele derived from this polygenic model and consequently can be used to characterize the specific component phenotypes contributed by individual SLE-susceptibility genes. We illustrate the efficacy of this approach with phenotypic data for one of our congenic strains, B6.NZMH2(z). Our results indicate that this single genomic interval from Chromosome (Chr) 17 of NZM2410 can mediate increased levels of IgG autoantibodies specific for chromatin and that, similar to results obtained in our original genetic cross, B6.NZMH2(z/b) heterozygotes are more prone than B6.NZMH2(z) homozygotes to the development of humoral autoimmunity to nuclear antigens. These results illustrate the feasibility of using congenic strains to dissect the complex pathogenic mechanisms that mediate polygenic SLE. These congenic strains will be valuable tools in the genetic analysis of SLE susceptibility. In future studies, these congenic strains will be interbred to produce bi- and tri-congenic strains in order to assess the role of genetic interactions in the expression of specific components of SLE pathogenesis. They will also be instrumental to the positional cloning and identification of the genes responsible for SLE susceptibility, via the production of congenic recombinants.
Gene length and organization are important attributes of genomics. With a large amount of sequence data becoming available, statistical analyses can be applied to this data and will offer beneficial output to research communities. Previous work in this field has focused on protein length and its coding region, while we are also investigating the non-coding regions, as well as trying to uncover any potential correlation that may exist between the regions. Analysis on the Arabidopsis thaliana found there was a strong correlation between the coding sequence length and the 3 UTR region, conditional on the 5 UTR ratios. These results seemed consistent over all chromosomes and data that either contained or lacked introns. Classification of proteins into functional classes presented several interesting results. It was found that the number of proteins in a specific functional category decreased as the value of the 5 UTR ratio length, separated into eight subsets, increased. This work has revealed some possible correlations between different gene regions.
The availability of genomic DNA and cDNA sequence data has escalated the data mining and genomics era. We aim to investigate the length distributions of the non-coding and coding regions of protein genes of two model organisms, Arabidopsis thaliana and Drosophila melanogaster. A non-linear functional relationship model was applied and strong correlation was found between the Coding Sequence (CDS) and non-coding sequence regions, conditional on the 5' UTR data. Significant differences were found between the protein functional classes and each gene region. Examination of the non-coding and coding regions of these organisms has revealed possible correlations.
INTRODUCTION The supplementation of caffeine is often used to elicit an enhancement of focus, arousal, or performance; however, intra‐individual response to caffeine has been shown to vary the effects of caffeine. Genetic variation of the adenosine receptor, 1976T>C (ADORA2A), has been linked to caffeine sensitivity and is a potential target for understanding individual differences. The TT genotype demonstrates an increased sensitivity to caffeine compared to the TC/CC genotype. The anxiogenic effects, genetic influences, and pharmacological interactions play a role in the ergogenic effects of caffeine. PURPOSE To examine the effects of caffeine and ADORA2A genetic variants on anaerobic performance during a 30s Wingate test. METHODS Sixteen trained subjects (age=19.8±0.5 years, weight=70.5±10.3 kg, height=175.8±8.8 cm) volunteered for a randomized, counterbalanced, and double‐blind study. Sixty minutes prior to testing, the subjects ingested a gelatin capsule containing either caffeine (CAF), 5mg·kg−1 bodyweight (BW), or a proportional placebo (PLA) of maltodextrin. The 30‐second Wingate Test (WAnT30) trials were performed on a Velotron cycle ergometer at 0.075 kg·BW−1 resistance and were separated by a minimum of 48 hours. Anaerobic power (AP) (W·kg−1), anaerobic capacity (AC) (W·kg−1), and total power (TP) (W) were determined for each condition. Genotype was determined using a mouth rinse of 0.9% NaCl to obtain buccal epithelial cells, which were lysed using proteinase k. DNA was extracted using QiAmp Mini spin columns. The allelic determination of ADORA2A was identified using TaqMan® SNP Assay (rs5751876) and 40 thermocycles for amplification with a One‐Step qPCR (Life Technologies, Carlsbad, CA). The data was analyzed using a 2 (condition) × 2 (genotype) ANOVA with repeated measures, p < 0.05. RESULTS Genotypic distribution resulted in 6 TT and 10 TC/CC individuals. The main effect of condition, PLA vs CAF, produced no significant ergogenic effect for AP (P=0.52), AC (p=0.67), or TP (p=0.85). The main effect of ADORA2A, TT vs TC/CC, produced no significant difference for AP (p=0.95), AC (p=0.49), or TP (p=0.95). The interaction effect of condition x genotype showed no significant differences for AP (p=0.65), AC (p=0.94), or TP (p=0.95). Although follow up simple effect tests showed no significant differences for AP, individuals with the TT genotype showed a 4.5% (11.2±1.12 to 11.7±1.3), PLA to CAF, improvement compared to the 0.81% (11.4±1.4 to 11.5±1.3) improvement of the TC/CC individuals. Likewise, for TP (W), TT individuals improved by 1.8% (192975±25911 to 196525±21111) while TC/CC individuals increased only 0.94% (194787±48699 to 196635±44092). CONCLUSION Caffeine did not elicit a significant anaerobic ergogenic effect for the WAnt30. However, the results indicate that individuals with the TT genotype did experience larger percent improvement than their TC/CC counterparts. As such, future research should continue to investigate these inter‐individual differences by increasing sample size and identifying...
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.