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Full-Text Articles in Life Sciences

Gene Discovery In Mendelian And Complex Diseases, Sali Farhan Aug 2016

Gene Discovery In Mendelian And Complex Diseases, Sali Farhan

Electronic Thesis and Dissertation Repository

Through the Finding of Rare Disease Genes in Canada (FORGE Canada) initiative, individuals affected with rare Mendelian diseases were clinically ascertained with a goal of identifying the genetic origin of their disease. Herein, I describe the methods for identifying the genetic basis of four Mendelian diseases. The application of next generation sequencing led to the discovery of non-synonymous variation in the DNA of individuals affected by rare diseases. The effects of the candidate variants were assessed using a series of functional experiments to complement the human genetics data. The variants observed in patients’ cells are extremely rare, were consistently predicted ...


Divergent Transcriptional Responses To Low Temperature Among Populations Of Alpine And Lowland Species Of New Zealand Stick Insects (Micrarchus)., Luke T Dunning, Alice B Dennis, Brent J Sinclair, Richard D Newcomb, Thomas R Buckley Jun 2014

Divergent Transcriptional Responses To Low Temperature Among Populations Of Alpine And Lowland Species Of New Zealand Stick Insects (Micrarchus)., Luke T Dunning, Alice B Dennis, Brent J Sinclair, Richard D Newcomb, Thomas R Buckley

Biology Publications

In widespread and genetically structured populations, temperature variation may lead to among-population differentiation of thermal biology. The New Zealand stick insect genus Micrarchus contains four species that inhabit different thermal environments, two of which are geographically widespread. RNA-Seq and quantitative PCR were used to investigate the transcriptional responses to cold shock among lowland and alpine species to identify cold-responsive transcripts that differ between the species and to determine whether there is intraspecific geographical variation in gene expression. We also used mitochondrial DNA, nuclear 28S ribosomal DNA and transcriptome-wide SNPs to determine phylogeographic structure and the potential for differences in genetic ...


Insights Into The Function Of The Fatc Domain Of Saccharomyces Cervisiae Tra1 Via Mutation And Suppressor Analysis, Samantha A. Pillon Aug 2013

Insights Into The Function Of The Fatc Domain Of Saccharomyces Cervisiae Tra1 Via Mutation And Suppressor Analysis, Samantha A. Pillon

Electronic Thesis and Dissertation Repository

The regulation of transcription is an important cellular function because it is the first step in gene regulation. In Saccharomyces cerevisiae, two protein complexes, SAGA and NuA4, act as regulators of transcription. A common protein shared between these two complexes, called Tra1, regulates transcriptional activation through its interaction with gene specific transcriptional activators. Tra1 is a member of the PIKK family of proteins, which are characterized by FAT, PI3K and FATC domains. The FATC domain encompasses the terminal 33-35 residues of the protein. Two mutations within the FATC domain, tra1-L3733A and tra1-F3744A, result in slow growth under stress conditions. Partially ...


Molecular Imaging To Target Transplanted Muscle Progenitor Cells, Kelly Gutpell, Rebecca Mcgirr, Lisa Hoffman Mar 2013

Molecular Imaging To Target Transplanted Muscle Progenitor Cells, Kelly Gutpell, Rebecca Mcgirr, Lisa Hoffman

Anatomy and Cell Biology Publications

Duchenne muscular dystrophy (DMD) is a severe genetic neuromuscular disorder that affects 1 in 3,500 boys, and is characterized by progressive muscle degeneration(1, 2). In patients, the ability of resident muscle satellite cells (SCs) to regenerate damaged myofibers becomes increasingly inefficient(4). Therefore, transplantation of muscle progenitor cells (MPCs)/myoblasts from healthy subjects is a promising therapeutic approach to DMD. A major limitation to the use of stem cell therapy, however, is a lack of reliable imaging technologies for long-term monitoring of implanted cells, and for evaluating its effectiveness. Here, we describe a non-invasive, real-time approach to evaluate ...


Ab Initio Exon Definition Using An Information Theory-Based Approach, Peter K. Rogan Mar 2009

Ab Initio Exon Definition Using An Information Theory-Based Approach, Peter K. Rogan

Biochemistry Publications

Transcribed exons in genes are joined together at donor and acceptor splice sites precisely and efficiently to generate mRNAs capa ble of being translated into proteins. The sequence variability in individual splice sites can be modeled using Shannon information theory. In the laboratory, the degree of individual splice site use is inferred from the structures of mRNAs and their relative abundance. These structures can be predicted using a bipartite information theory framework that is guided by current knowledge of biological mechanisms for exon recognition. We present the results of this analysis for the complete dataset of all expressed human exons.