title: A novel first exon of the Patched1 gene is upregulated by Hedgehog signaling resulting in a protein with pathway inhibitory functions.
abstract: Patched homolog 1 (PTCH1) is a key component of the Hedgehog (HH) signaling pathway with three alternative first exons, but only exon 1B transcription depending on HH activation. Here, we show that in both human and mouse a novel PTCH1 first exon (1C) is expressed. Exon 1C transcription is upregulated by HH signaling, but the resulting PTCH1-1C protein has a lower capacity for pathway inhibition than PTCH1-1B.
authors.affiliation: Department of Biosciences at Novum, Karolinska Institute, Huddinge 141 57, Sweden.
authors.forename: Takashi
authors.initials: T
authors.lastname: Shimokawa
authors.forename: Fahimeh
authors.initials: F
authors.lastname: Rahnama
authors.forename: Peter G
authors.initials: PG
authors.lastname: Zaphiropoulos
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D005091:Exons; D005786:Gene Expression Regulation; D053823:Hedgehog Proteins; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D008969:Molecular Sequence Data; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface; D015398:Signal Transduction / Q000502:physiology*; D014018:Tissue Distribution; D015534:Trans-Activators / Q000235:genetics / Q000378:metabolism*; D014158:Transcription, Genetic; D015854:Up-Regulation
chemical_list: D053823:Hedgehog Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; C000606240:Ptch1 protein, mouse; D011956:Receptors, Cell Surface; D015534:Trans-Activators