The Research Roundup provides an overview of the past week’s research from Mayo Medical Laboratories consultants, including featured abstracts and complete list of published studies and reviews.
Somatic mosaicism in the human brain may alter function of individual neurons. Mayo Clinic researchers analyzed genomes of single cells from the forebrains of three human fetuses (15 to 21 weeks post-conception) using clonal cell populations. They detected 200-400 single nucleotide variations (SNVs) per cell. SNV patterns resembled those found in cancer cell genomes, indicating a role of background mutagenesis in cancer. SNVs with a frequency of less than 2% in brain were shared with the spleen, revealing a pregastrulation origin. Researchers reconstructed cell lineages for the first five post-zygotic cleavages and calculated a mutation rate of approximately 1.3 per division per cell. Later in development, during neurogenesis, the mutation spectrum shifted toward oxidative damage and the mutation rate increased. Both neurogenesis and early embryogenesis exhibit drastically more mutagenesis than adulthood. The study was published in Science.