Alan Saghatelian

Determining the complete repertoire and functional significance of protein-coding genes in the human genome remains one of the most fundamental challenges in modern biology. Through the integration of state-of-the-art proteomics and genomics approaches, our research has uncovered thousands of previously unidentified protein-coding genes within the human genome. These genes were systematically overlooked by conventional gene annotation algorithms due to their encoding of proteins with fewer than 100 amino acids (microproteins), exposing a critical limitation in standard small open reading frame (smORF) detection methodologies. Our comprehensive functional characterization of several microproteins, including CYREN, PIGBOS1, and SLC35A4, has revealed novel regulatory pathways with significant implications for diverse cellular processes. These findings collectively establish the existence of a vast and largely unexplored class of functional protein-coding genes in the human genome. The identification and characterization of these microproteins not only enhances our understanding of human genomic complexity but also presents promising opportunities for therapeutic intervention and biomarker development.

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