Project description:This SuperSeries is composed of the following subset Series: GSE16360: Gene expression profiling of muscles from transgenic humanSODG93A mice at presymptomatic stage GSE16361: Gene expression profiling of muscles from transgenic humanSODG93A mice at symptomatic stage Refer to individual Series
Project description:We collected whole genome testis expression data from hybrid zone mice. We integrated GWAS mapping of testis expression traits and low testis weight to gain insight into the genetic basis of hybrid male sterility.
Project description:The transgenic mice expressing the human mutated form (G93A) of the SOD1 gene represent a valuable model of Amyotrophic Lateral Sclerosis (ALS). SOD1 is one of the main causative genes of familial ALS which accounts for 10% of cases. These transgenic animals develop a motorneuronal pathology that recapitulates well the neuropathological features occuring in ALS patients, and the progression of the disease can be monitored by a series of motor tests. Gastrocnemius is the first and most affected muscle in the disease, while triceps is relatively spared. Gene expression data of degenerating motor neurons at different disease stages are already available, while gene expression data on the muscle tissue are missing. Our aim is to define the role of muscle in motor neuron degeneration in ALS. Keywords: Single stage analysis (presymptomatic stage, 7 week-old mice) We considered two sets of muscle at presymptomatic stage (7 weeks): gastrocnemius and triceps from 4 transgenic SOD1G93A and 4 non-transgenic mice (NTg).
Project description:Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease that leads to the loss of motor neurons. The molecular mechanisms of motor neuron degeneration are largely unknown and there are currently no effective therapies to treat this disease. Cases of familial ALS have been linked to mutations in the profilin1 gene (PFN1) and here we utilize the in vivo mouse model of PFN1-related motor neuron disease, hPFN1G118V. We conducted whole transcriptome profiling of spinal cords of mutant transgenic hPFN1G118V mice and their wildtype transgenic hPFN1WT controls at 50 days, a presymptomatic stage and the earliest known time point at which aggregation of PFN1G118V occurs, and at end stage of disease, beginning around 180 days. The overall transcriptome profiles of spinal cord were highly similar while end stage hPFN1G118V mice had gene expression that clustered away from hPFN1WT and presymptomatic hPFN1G118V mice. Differential expression analysis revealed that end stage hPFN1G118V mice had 890 differentially expressed genes (747 up and 143 down) when compared to pre-symptomatic hPFN1G118V mice, and they had 836 differentially expressed genes (742 up and 94 down) when compared to their age-matched hPFN1WT controls. 50 day old hPFN1G118V mice were not significantly different from their age matched hPFN1WT controls. This is the first study that has utilized next generation RNA-sequencing to measure gene expression in pre-symptomatic and end-stage hPFN1G118V mice, and may lead to identification of molecular features that could become therapeutic targets for ALS.
Project description:Introgressed variants from other species can be an important source of genetic variation because they may arise rapidly, can include multiple mutations on a single haplotype, and have often been pretested by selection in the species of origin. Although introgressed alleles are generally deleterious, several studies have reported introgression as the source of adaptive alleles-including the rodenticide-resistant variant of Vkorc1 that introgressed from Mus spretus into European populations of Mus musculus domesticus. Here, we conducted bidirectional genome scans to characterize introgressed regions into one wild population of M. spretus from Spain and three wild populations of M. m. domesticus from France, Germany, and Iran. Despite the fact that these species show considerable intrinsic postzygotic reproductive isolation, introgression was observed in all individuals, including in the M. musculus reference genome (GRCm38). Mus spretus individuals had a greater proportion of introgression compared with M. m. domesticus, and within M. m. domesticus, the proportion of introgression decreased with geographic distance from the area of sympatry. Introgression was observed on all autosomes for both species, but not on the X-chromosome in M. m. domesticus, consistent with known X-linked hybrid sterility and inviability genes that have been mapped to the M. spretus X-chromosome. Tract lengths were generally short with a few outliers of up to 2.7 Mb. Interestingly, the longest introgressed tracts were in olfactory receptor regions, and introgressed tracts were significantly enriched for olfactory receptor genes in both species, suggesting that introgression may be a source of functional novelty even between species with high barriers to gene flow.