Academic Journal
Gene Copy-Number Variation in Haploid and Diploid Strains of the Yeast Saccharomyces cerevisiae
| العنوان: | Gene Copy-Number Variation in Haploid and Diploid Strains of the Yeast Saccharomyces cerevisiae |
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| المؤلفون: | Zhang, Hengshan, Zeidler, Ane F B, Song, Wei, Puccia, Christopher M, Malc, Ewa, Greenwell, Patricia W, Mieczkowski, Piotr A, Petes, Thomas D, Argueso, Juan Lucas |
| المصدر: | Genetics ; volume 193, issue 3, page 785-801 ; ISSN 1943-2631 |
| بيانات النشر: | Oxford University Press (OUP) |
| سنة النشر: | 2013 |
| الوصف: | The increasing ability to sequence and compare multiple individual genomes within a species has highlighted the fact that copy-number variation (CNV) is a substantial and underappreciated source of genetic diversity. Chromosome-scale mutations occur at rates orders of magnitude higher than base substitutions, yet our understanding of the mechanisms leading to CNVs has been lagging. We examined CNV in a region of chromosome 5 (chr5) in haploid and diploid strains of Saccharomyces cerevisiae. We optimized a CNV detection assay based on a reporter cassette containing the SFA1 and CUP1 genes that confer gene dosage-dependent tolerance to formaldehyde and copper, respectively. This optimized reporter allowed the selection of low-order gene amplification events, going from one copy to two copies in haploids and from two to three copies in diploids. In haploid strains, most events involved tandem segmental duplications mediated by nonallelic homologous recombination between flanking direct repeats, primarily Ty1 elements. In diploids, most events involved the formation of a recurrent nonreciprocal translocation between a chr5 Ty1 element and another Ty1 repeat on chr13. In addition to amplification events, a subset of clones displaying elevated resistance to formaldehyde had point mutations within the SFA1 coding sequence. These mutations were all dominant and are proposed to result in hyperactive forms of the formaldehyde dehydrogenase enzyme. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1534/genetics.112.146522 |
| الاتاحة: | http://dx.doi.org/10.1534/genetics.112.146522 https://academic.oup.com/genetics/article-pdf/193/3/785/42120496/genetics0785.pdf |
| Rights: | https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model |
| رقم الانضمام: | edsbas.7AC8F758 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1534/genetics.112.146522 |
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