PMS1 homolog 1 pre-mRNA (PMS1 pre-mRNA)

PMS1 pre-mRNA is the immediate RNA transcript produced from the PMS1 gene, containing both exons and introns, and requires splicing to generate mature PMS1 mRNA. The PMS1 gene encodes a protein involved in the DNA mismatch repair pathway. While PMS1 pre-mRNA itself is not a conventional drug target, recent research demonstrates that therapeutically relevant small molecules (e.g., branaplam, risdiplam) can modulate alternative splicing of PMS1 pre-mRNA, generating truncated, likely inactive protein products. This pharmacological manipulation is being explored to indirectly suppress disease-related repeat expansions, such as in Huntington’s disease, by reducing functional PMS1 levels. The correct biomedical target is typically considered the PMS1 protein, not its pre-mRNA[1][2][3][4]. "PMS1 pre-mRNA" is not a standard drug target; the actual target is PMS1 gene/protein. The pre-mRNA is only targeted indirectly via splice modulation in research or preclinical drug studies[1][2][3][4].

Other names

precursor PMS1 mRNAPMS1 primary transcriptPMS1 heterogenous nuclear RNA (PMS1 hnRNA)

Splice modulation leading to truncated PMS1 protein (due to inclusion of a pseudoexon, reducing functional PMS1 and affecting repeat instability in disease models)