Poly(U)-binding-splicing factor PUF60

PUF60 (poly(U)-binding-splicing factor) is a DNA- and RNA-binding protein with roles in pre-mRNA splicing, transcription regulation, and apoptosis (UniProt: Q9UHX1). It functions in association with FUBP1 to regulate MYC transcription and modulates alternative splicing through binding to pyrimidine tracts and 3'-splice sites. The protein also interacts with the basal transcription factor core-TFIIH to regulate gene expression.

PUF60 is broadly expressed and implicated in nuclear processes across tissues. UniProt notes a disease association with Verheij syndrome (VRJS, MIM 615583), a developmental disorder characterized by growth retardation, psychomotor delay, dysmorphic features, and skeletal abnormalities.

In Alzheimer's Disease, PUF60 is significantly upregulated in post-mortem AD brain tissue compared to age-matched controls, with a mean log2 fold-change of 0.74 across subcellular fractions (Chaparral AD proteomics). This upregulation suggests altered splicing or transcriptional dysregulation may contribute to AD pathology, though the functional consequence remains to be determined.