"Genetic analysis of the human disease-causing gene ATM in yeast Tel1 and Mec1 mutants"
MetadataShow full item record
SubjectAtaxia telangiectasia.; Ataxia--Genetic aspects.; Yeast fungi--Genetics.; Saccharomyces--Genetics.; Genetics.; Radiation.
Ataxia-telangiectasia (A-T) is a recessive human disorder characterized by hypersensitivity to radiation, elevated risk of cancer development, nervous degeneration, premature senescence, and immune deficiencies. A-T is caused by mutation of the ATM gene located on human chromosome 11. The large protein product of ATM is a member of the phosphatidylinositol-3-kinase (PI3K) protein family. PI3K's are important for cellular response to DNA damage and are involved in DNA repair, genetic recombination, apoptosis, and cell cycle regulation. Human protein ATR and yeast proteins Mec1 and Tel1 are also PI3K's. Yeast tel1 mutants display chromosome instability and telomere shortening, and yeast mec1 mutants display sensitivity to DNA damaging agents, checkpoint misregulation, chromosome loss, and chromosome rearrangement. The defects observed in human cancer cells are similar to those observed in yeast mec1 and tel1 mutants. Previous research has shown that the human ATR protein can functionally complement the radiation sensitivity of a yeast mec1 mutant. Similarly, yeast tel1 p can partially functionally complement the human A-T phenotype, reducing recombination, apoptosis, and telomere shortening in A-T cells. However, Tel1 p does not reverse the A-T defects in cell cycle checkpoints and sensitivity to radiation, suggesting that these two processes may be regulated by Mec1 p. To determine whether the human ATM gene can functionally complement mec1 and tel1 in yeast, the full length ATM gene and ATM PI3K domain are being cloned and tested for functional complementation of tel1 and mec1 defects.
Showing items related by title, author, creator and subject.
Leeson, Stephanie; Fatland, Sarah; Bellani, Denisa; Scolaro, Eric; Wood, Abby; Young, Chris; Sleister, Heidi (2006-05-05)Accurate transmission of chromosomes during cell division requires that chromosomes are fully replicated and free of damage prior to cell division. Furthermore, cellular processes that separate chromosomes must be functional. ...
Bjordahl, Ryan; Davison, Rob; Hatz, Daniel; Kostelc, Kate; Larew, Robbie; Miller, Adam; Rusdianto, Eveline; Sawaya, Elizabeth; Sleister, Heidi (2006-06-07)The process of cell division is highly regulated in eukaryotic cells. Failure to transmit chromosomes accurately during cell division can result in cell death or abnormal growth (e.g., tumors). Proteins that associate in ...
Lethal and Semilethal Mutation Frequency of the First and Second Chromosomes in Two Natural Populations of "Drosophila melanogaster" Krick, Frederick M. (Drake University, 1986-08)The problem. The present study was undertaken to examine potential genetic diversity as measured by the lethal gene frequencies between two natural populations of "Drosophila melanogaster". High levels of trichloroethylene ...