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  • 18th International Mouse Genome Conference (2004)
    Center Memphis TN United States 2 Department of Computer Science University of Tennessee Knoxville TN United States 3 Oak Ridge National Laboratory Oak Ridge TN United States In our ongoing microarray based analysis of genetic regulation of gene transcription in recombinant inbred strains generated by crossing C57BL 6J and DBA 2J BXD RI we have identified a small number of chromosomal loci that modulate mRNA abundance of several hundred transcripts each These loci were detected using a novel application of clique analysis for dimension reduction of microarray data Many of these results can be explored using new tools and external links in WebQTL www webqtl org search html which allows users to rapidly examine multiple traits and interpret their relations and patterns of covariance Using a combination of genetic correlation analysis clique analysis Quantitative trait locus QTL analysis and Gene Ontology category representation analysis we have identified loci that modulate expression of components of the synaptic vesicle cycling system Using Batch Sequence Analysis we have identified putative novel conserved regulatory sequences for one highly co regulated group of transcripts Specific candidate genes that reside at some of these regulatory loci have been identified A single locus has been identified that

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file165.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    of Tokyo Tokyo Japan 3 National Institute of Infectious diseases Tokyo Japan 4 RIKEN Bioresource Center Ibaraki Japan YPC is a mutant mouse strain with defective hair growth characterized by thin short hairs and poorly developed hair bulbs and dermal papillae To identify the gene responsible for the phenotype we performed genome wide linkage analysis using 1 010 backcross progeny and 123 microsatellite markers covering all chromosomes The mutant locus ypc was mapped to a 0 2 cM region in the proximal part of mouse chromosome 1 This 0 2 cM region corresponds to a 450 kb region of genome sequence that contains two genes with known functions and five ESTs or predicted genes with unknown functions Sequence analysis revealed a single C to A nucleotide substitution at nucleotide 1 382 in the Sgkl gene causing a nonsense mutation at codon 461 Sgkl encodes serum and glucocorticoid inducible kinase like kinase SGKL which belongs to a subfamily of serine threonine protein kinases and has been suggested to have a role downstream of lipid signals produced by activation of phosphoinositide 3 kinase PI3K In the mutant SGKL a serine residue in the C terminal end of the protein Ser486 which is

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file166.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    Plenary Presentations Oral Presentations Poster Abstracts Photos Verne Chapman Memorial Lecture Table of Contents Attendees Awards POSTER 115 MOUSE CHROMOSOME 11 ANALYSIS AND ANNOTATION THE HIGHLIGHTS Ashurst J Frankish A Gibson R Grocock R Hart L Laird G Loveland J Mudge J Sehra H Steward C Swarbreck D Wilming L Wellcome Trust Sanger Institute Hinxton United Kingdom Mouse chromosome 11 finished and sequenced from clone based contigs as opposed to

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file167.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    biology pathways has increased exponentially in the last decade One impetus for this has been the completion of sequence drafts for human mouse and recently the rat genomes The complexity depth and associated high cost of information which can now be acquired from exploring mouse model systems mean that strict stable genetic standards are paramount The genomes of all living organisms including inbred mice are however continually evolving Any genetic change in a strain can potentially lead to phenotypic change For example it was reported that a C57BL 6 substrain from Olac Harlan Sprague Dawley UK was supplied for a few years with an undetected spontaneous deletion of more than 97kb covering in part the alpha synuclein locus a gene implicated in a number of neurodegenerative diseases These naturally occurring accumulated genetic variations genetic drift can lead to unexpected results and confound deep data acquisition making reliable comparative analysis on large data sets derived over time difficult Furthermore genetic contamination of inbred strains can occur even in the best mouse house leading to unexpected and confounding outcomes It is therefore critical for any research organization to ensure that mice used are of the correct genotype and have not become a

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file168.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    E Luo G Case Western Reserve University Cleveland United States Homologous recombination HR is important for both mitotic and meiotic cells HR can lead to either crossover or gene conversion without crossover upon completion In somatic cells crossovers can cause genome rearrangements and must be suppressed by specific mechanisms Previous studies have shown that BLM a RecQ DNA helicase has important roles in such suppression Mutations in the BLM gene in humans cause Bloom syndrome BS a disorder with unusually high tumor susceptibility The elevated frequency of mitotic crossovers in BS cells leads to a significantly increased frequency of sister chromatid exchange SCE as well as triradial and quadriradial structures Interestingly while BLM is the only known gene to suppress mitotic crossovers in mammals recent studies in yeast suggest additional mechanisms exist Therefore it is important to investigate whether other pathways are also present in mammals In addition to our previously reported mouse model for BS we generated knockout mice for another RecQ family member Recql5 Analysis in Recql5 cells revealed that the frequency of spontaneous SCE increased to a comparable level of that observed in Blm cells Triradial and quadriradial structures were also seen in these cells Frequency of

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file169.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    Lamb BT Department of Genetics Case Western Reserve University and University Hospitals of Cleveland Cleveland United States The APOE e 4 allele is the most significant genetic risk factor associated with Alzheimer s disease to date Epidemiological studies have demonstrated that inheritance of one or more e 4 alleles affects both the age of onset and severity of pathology development Dosage of APOE e 2 and e 3 alleles however appear to be protective against the effects of e 4 Although much of the biology of APOE in peripheral cholesterol metabolism is understood its role in brain cholesterol metabolism and its impact on AD development is less defined Several studies have shown that cholesterol may be an independent risk factor for AD and can directly affect the production of A b the constituent of senile plaques We have characterized APOE knock in KI mice which express each human allele under endogenous regulatory elements on a defined C57BL6 J background These mice have significantly different serum cholesterol levels and steady state brain APOE levels yet have equivalent brain cholesterol levels However the presence of human APOE significantly increases brain A b levels in a genomic based model of AD irrespective of

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file170.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    for hearing loss This phenotype is the result of loss or dysfunction in the plasma membrane calcium ATPase isoform 2 PMCA2 which is critical for calcium extrusion in the stereocilia of hair cells in the organ of Corti Mice homozygous for a mutation in the gene encoding this protein are profoundly deaf and ataxic heterozygotes display partial hearing loss in a haplo insufficient manner In young animals this hearing loss

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file171.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    in T cells of IL 15R a its high affinity receptor remains unclear We found that IL 15R a CD4 T cells hyperproliferated in response to TCR stimulation in vitro and in vivo and displayed a lower TCR activation threshold than wild type wt CD4 T cells TCR induced activation of Zap70 and of the PLC g 1 Ca NFATp Ras ERK c Fos and Rac JNK c Jun pathways

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file172.shtml (2016-02-17)
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