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This Week in Cell: Feb 11, 2015

Researchers from the National Institute of Allergy and Infectious Diseases and elsewhere describe a case of WHIM syndrome that appears to have "cured" itself through chromosome shattering, or chromothripsis. The team used genotyping and other approaches to assess samples from a woman with WHIM syndrome — an inherited condition characterized by recurrent warts, infections, and other immune problems — who hadn't exhibited symptoms in two decades, along with her affected daughters, who still had symptoms. Results from the analysis indicated that the woman had lost a stretch of chromosome 2 in a sub-population of hematopoietic stem cells that eventually repopulated the myeloid branch of the immune system.

For another Cell study, a Broad Institute-led team looked at the interactions between tumors and anti-tumor cells of the cytolytic immune cells that neighbor them. Using RNA sequencing data for thousands of solid tumor samples assessed through the Cancer Genome Atlas project, the investigators tracked cytolytic activity in tumors from 18 cancer types. Their results suggested that cytolytic immune activity tends to coincide with specific gene mutations and the presence of major histocompatibility complex class I neoantigens, which varied in some cancers. "Our results suggest that neoantigens and viruses are likely to drive cytolytic activity," the study's authors say, "and reveal known and novel mutations that enable tumors to resist immune attack."

By doing chromatin immunoprecipitation sequencing on liver samples from 20 mammalian species, researchers from the UK, the US, and Denmark mapped chromatin marks associated with promoter or enhancer sites in the genome. Their results pointed to relatively rapid enhancer evolution across the mammalian lineage, often from ancestral sequences, with many of the most quickly evolving enhancers falling in and around genes showing signs of selection in a given species. GenomeWeb has more on the study here.