Nonsense-mediated mRNA decay: novel mechanistic insights and biological impact.

A recent study comparing AS‐NMD events that are conserved between human and mouse brain cortex revealed, besides transcripts involved in mRNA metabolism, a highly significant enrichment of transcripts encoding chromatin modifiers. 135 An interesting example of an unusual AS‐NMD circuit was recently reported for HPS1, a subunit of a guanine nucleotide exchange factor that is essential for biogenesis of lysosome‐related organelles and mutated in patients with Hermansky–Pudlak syndrome 136 : PTBP1 promotes utilization of an intrinsically weak 5′ splice site in the HPS1 pre‐mRNA, giving rise to stable mRNA encoding full‐length HPS1 protein.

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