Using Allen Brain Cell Atlas of the Human Brain to Gain Insights into the C-Terminal Binding Protein 1 (CTBP1)’s Potential Function

C-terminal binding proteins (CtBPs) dimerize and function predominantly as transcriptional corepressors by targeting various chromatin-modifying factors to promoter-bound repressors. Hypotonia, Ataxia, Developmental-Delay, and Tooth-Enamel Defects Syndrome (HADDTS) is a recently discovered neurodevelopmental disorder resulting from a heterozygous missense mutation in CTBP1. It is often associated with the early onset of profound cerebellar atrophy in patients. To understand CtBP1's role in brain function and the etiology of HADDTS, Allen Institute’s Allen Brain Cell (ABC) human brain atlas was used. Based on the ABC atlas, CTBP1 is highly expressed in the upper rhombic lip supercluster which gives rise to the majority of the cerebellar granule cells. The results correlate with the cerebellum related manifestations observed in HADDTS patients.