NDLI: Detection of heterozygous truncating mutations in the BRCA1 and APC genes by using a rapid screening assay in yeast.

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Detection of heterozygous truncating mutations in the BRCA1 and APC genes by using a rapid screening assay in yeast.

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Detection of heterozygous truncating mutations in the BRCA1 and APC genes by using a rapid screening assay in yeast.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Krainer, M. Isselbacher, K. J. Suzuki, T. Shimodaira, H. Nomizu, T. Kanamaru, R. Ishioka, C. Shimada, A. Haber, D. Fitzgerald, M.
Description	Author Affiliation: Ishioka C ( Department of Clinical Oncology, Institute of Development, Aging and Cancer, Tohoku University, Aoba-ku, Sendai, Japan. chikashi@idac.tohoku.ac.jp);
Abstract	The detection of inactivating mutations in tumor suppressor genes is critical to their characterization, as well as to the development of diagnostic testing. Most approaches for mutational screening of germ-line specimens are complicated by the fact that mutations are heterozygous and that missense mutations are difficult to interpret in the absence of information about protein function. We describe a novel method using Saccharomyces cerevisiae for detecting protein-truncating mutations in any gene of interest. The PCR-amplified coding sequence is inserted by homologous recombination into a yeast URA3 fusion protein, and transformants are assayed for growth in the absence of uracil. The high efficiency of homologous recombination in yeast ensures that both alleles are represented among transformants and achieves separation of alleles, which facilitates subsequent nucleotide sequencing of the mutated transcript. The specificity of translational initiation of the URA3 gene leads to minimal enzymatic activity in transformants harboring an inserted stop codon, and hence to reliable distinction between specimens with wild-type alleles and those with a heterozygous truncating mutation. This yeast-based stop codon assay accurately detects heterozygous truncating mutations in the BRCA1 gene in patients with early onset of breast cancer and in the APC gene in patients with familial adenomatous polyposis. This approach offers a rapid and reliable method for genetic diagnosis in individuals at high risk for germ-line mutations in cancer susceptibility genes.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	6
Volume Number	94
Language	English
Publisher	National Academy of Sciences
Publisher Date	1997-04-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Frameshift Mutation Genes, APC Genes, BRCA1 Sequence Deletion Cloning, Molecular Codon DNA Primers Gene Deletion Heterozygote Detection Molecular Sequence Data Polymerase Chain Reaction Saccharomyces Cerevisiae Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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