Comparative analyses of the Smith−Magenis syndrome protein RAI1 in mice and common marmoset monkeys

To extend knowledge of RAI1 function to nonhuman primates, the Huang lab characterized the spatiotemporal distribution and molecular interactions of RAI1 in the common marmoset (Callithrix jacchus), an emerging nonhuman primate model.

By performing comparative immunocytochemistry analyses using marmosets and mice, the Huang lab identified unique and shared patterns of RAI1 expression between these species. Biochemistry experiments using marmoset and mouse brains revealed that RAI1 forms a protein complex in both species with a paralogous protein TCF20 and two other chromatin-binding proteins, PHF14 and HMG20A. Using human cells, the Huang lab found that TCF20 regulates the stability of RAI1. The lab’s work reveals the developmental and adult expression profile of RAI1 in marmoset brains and improves their understanding of the cellular basis of SMS.