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Illuminating dimerization
Proteins of the SMC family are chromosomal organizers involved in sister chromatid cohesion, chromosome condensation, and DNA repair. Unlike other eukaryotic family members, SMCHD1 forms homodimers, rather than heterodimers, and has a distinct domain architecture. Dysregulation of SMCHD1 function results in a form of muscular dystrophy and a developmental disorder. Chen et al. solved the x-ray crystal structure of the Smchd1 hinge domain, which is important for homodimerization and nucleic acid binding. Site-directed mutagenesis studies identified critical residues involved in SMCHD1 function in cells. Together, these data suggest how mutations in the SMCHD1 hinge domain contribute to human disease.
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