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This Week in Science: Aug 19, 2011

MIT's Angelika Amon and her colleagues report in Science this week that aneuploidy leads to genomic instability in yeast. The researchers studied 13 haploid Saccharomyces cerevisiae strains that had extra copies of a single chromosome, and whether those strains had segregation fidelity. Compared to a control, those strains had an increased rate of mis-segregation. Amon et al. then found that aneuploid strains had a higher mutation rate as well as an increased number of double-stranded breaks during replication. "This study establishes that missegregation of a single chromosome is sufficient to induce the hallmarks of genomic instability, including whole-chromosome instability, mutagenesis, and sensitivity to genotoxic stress," Amon and her colleagues write.

Also in Science, Georgetown University School of Medicine's Todd Waldman and his team found that inactivation of STAG2, a gene that encodes a cohesin complex subunit, causes aneuploidy in human cancer. Targeted inactivation of STAG2 in a human cell line with a stable karyotype led to chromatid cohesion defects and aneuploidy, the researchers report, while targeted correction of mutant STAG2 alleles led to chromosomal stability in glioblastoma cell lines. "We postulate that STAG2 is likely to function as a 'caretaker' tumor suppressor gene that when inactivated results in chromosomal instability, similar to other caretaker genes," Waldman's team writes.

A commentary on both the above papers notes that chromosomal abnormalities like aneuploidy are hallmarks of cancer and that these studies "show that aneuploidy enhances genetic recombination and defective DNA damage repair, thereby providing a mechanistic link between aneuploidy and genomic instability."

In Science Translational Medicine, Atul Butte at Stanford University and his colleagues report a new computational approach to repositioning drugs. "We integrated gene expression measurements from 100 diseases and gene expression measurements on 164 drug compounds, yielding predicted therapeutic potentials for these drugs," Butte et al. say. The researchers add they found many established drug-diseases relationships, and they experimentally validated a prediction that the antiulcer drug cimetidine could treat lung adenocarcinoma.

The Scan

US Booster Eligibility Decision

The US CDC director recommends that people at high risk of developing COVID-19 due to their jobs also be eligible for COVID-19 boosters, in addition to those 65 years old and older or with underlying medical conditions.

Arizona Bill Before Judge

The Arizona Daily Star reports that a judge is weighing whether a new Arizona law restricting abortion due to genetic conditions is a ban or a restriction.

Additional Genes

Wales is rolling out new genetic testing service for cancer patients, according to BBC News.

Science Papers Examine State of Human Genomic Research, Single-Cell Protein Quantification

In Science this week: a number of editorials and policy reports discuss advances in human genomic research, and more.