In PLoS Genetics this week, a team led by investigators at the Australian National University reports its use of "chromosome painting and gene mapping to deconstruct the DFTD [Tasmanian devil facial tumor disease] karyotype and determine the chromosome and gene rearrangements involved in carcinogenesis." Through its analysis, the team produced detailed maps of both the devil and tumor karyotypes, which the researchers say will aid future genomic investigations into the transmissible cancer.
Elsewhere in the journal, researchers at the University of Southern California present "evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B" that positive selection for new disease mutations has occurred in the human germline. The USC team also says its study may be "useful for studying other disease mutations with similar characteristics and could uncover additional germline selection pathways or identify true mutation hot spots."
Over in PLoS Computational Biology, a separate team led by researchers at USC discusses the "use of gene ontology annotations to assess functional similarity among orthologs and paralogs." The researchers show there is a global ascertainment bias in experiment-based gene ontology annotations for human and mouse genes, and say that "GO annotations are often incomplete, potentially in a biased manner, and subject to an “open world assumption” (absence of an annotation does not imply absence of a function), and that conclusions drawn from a novel, large-scale GO analysis should whenever possible be supported by careful, in-depth examination of examples, to help ensure the conclusions have a justifiable biological basis."