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The characterization of atm-1 in Caenorhabditis elegans

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dc.contributor.author Huang, Chin
dc.date.accessioned 2011-06-08T22:23:54Z
dc.date.available 2011-06-08T22:23:54Z
dc.date.copyright 2011 en
dc.date.issued 2011-06-08T22:23:54Z
dc.identifier.uri http://hdl.handle.net/2429/35326
dc.description.abstract Loss of function of ATM (ataxia-telangiectasia, mutated) was discovered to be the genetic cause of the human disorder Ataxia-Telangiectasia (A-T). A-T is a rare, autosomal recessive human disorder that presents with multiple symptoms, including ataxia, telangiectasia, neurodegeneration, immunodeficiency, radiosensitivity, genomic instability, and a predisposition to developing cancer. The predicted ATM orthologue in Caenorhabditis elegans (C. elegans) is the gene atm-1. C. elegans is a model system that is easily amendable to molecular and genetic research. In this thesis, I have characterized the structure of atm-1 and examined its mutant phenotype. The predicted gene model for atm-1 was smaller than known orthologues. Using cDNA analysis and sequencing, I have shown that the three gene predictions atm-1, K10E9.1, and F56C11.4 make up the complete coding region. I observed differences from the original prediction including unpredicted splice sites and exonic sequences. A single atm-1 mutant allele, gk186, exists. I have shown that the gk186 deletion produces two alternative transcripts, one of which retains the protein kinase domain. Thus, in contrast to previous expectations that this mutation generated a loss of function phenotype, it is likely that it produces a protein with kinase function. The phenotype of the mutant is radiation sensitivity, as expected, but is not as sensitive as brd-1, another loss of function mutant in the same double strand break repair pathway. This result is consistent with partial function retention of atm-1. In addition, mutant atm-1 showed chromosomal instability in X-chromosome loss and subsequent sterility. Some of the mutational events were captured as lethals using the eT1 balancer system documenting a mutator phenotype of atm-1. Characterization of atm-1 gene function in C. elegans may provide additional information about its function in other organisms including humans. en
dc.language.iso eng en
dc.publisher University of British Columbia en
dc.title The characterization of atm-1 in Caenorhabditis elegans en
dc.type Electronic Thesis or Dissertation en
dc.degree.name Master of Science - MSc en
dc.degree.discipline Medical Genetics en
dc.degree.grantor University of British Columbia en
dc.date.graduation 2011-11 en
dc.degree.campus UBCV en
dc.description.scholarlevel Graduate en

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