Ontology highlight
ABSTRACT:
SUBMITTER: Carico ZM
PROVIDER: S-EPMC7990204 | biostudies-literature | 2021 Mar
REPOSITORIES: biostudies-literature
PLoS genetics 20210324 3
The cohesin complex spatially organizes interphase chromatin by bringing distal genomic loci into close physical proximity, looping out the intervening DNA. Mutation of cohesin complex subunits is observed in cancer and developmental disorders, but the mechanisms through which these mutations may contribute to disease remain poorly understood. Here, we investigate a recurrent missense mutation to the hinge domain of the cohesin subunit SMC1A, observed in acute myeloid leukemia. Engineering this ...[more]