In Science this week, a team led by Rockefeller University researchers report on the identification of key mutations in a gene encoding ribosomal protein SA, or RPSA, as the possible cause of isolated congenital asplenia — a rare condition in which a person is born without a spleen, which increases the risk of serious bacterial infection. The group conducted an unbiased analysis of the exome sequences of a group of ICA patients and found seven mutations on RPSA, resulting in the expression of about half the normal level of its protein.
Meanwhile, in Science Translational Medicine, researchers from the Baylor College of Medicine and the University of Texas MD Anderson Cancer Center publish a report on the identification and characterization of breast cancer circulating tumor cells involved in metastasis. Using CTCs from peripheral blood mononuclear cells of breast cancer patients, the team identified a potential genetic signature of brain metastasis and found that cells expressing the signature were highly invasive and capable of generating brain and lung metastases when xenografted in nude mice.
In Science Signaling, an international team reported a protein phosphorylation network in the abscisic acid, or ABA, signaling pathway in Arabidopsis thaliana. By integrating genetics with phosphoproteomics, the investigators were able to identify multiple components of the ABA-responsive protein phosphorylation network.