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PMID:9153393
| Citation |
Wong, PC, Zheng, H, Chen, H, Becher, MW, Sirinathsinghji, DJ, Trumbauer, ME, Chen, HY, Price, DL, Van der Ploeg, LH and Sisodia, SS (1997) Presenilin 1 is required for Notch1 and DII1 expression in the paraxial mesoderm. Nature 387:288-92 |
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| Abstract |
Approximately 10% of cases of Alzheimer's disease are familial and associated with autosomal dominant inheritance of mutations in genes encoding the amyloid precursor protein, presenilin 1 (PS1) and presenilin 2 (PS2). Mutations in PS1 are linked to about 25% of cases of early-onset familial Alzheimer's disease. PS1, which is endoproteolytically processed in vivo, is a multipass transmembrane protein and is a functional homologue of SEL-12, a Caenorhabditis elegans protein that facilitates signalling mediated by the Notch/LIN-12 family of receptors. To examine potential roles for PS1 in facilitating Notch-mediated signalling during mammalian embryogenesis, we generated mice with targeted disruptions of PS1 alleles (PS1-/- mice). PS1-/- embryos exhibited abnormal patterning of the axial skeleton and spinal ganglia, phenotypes traced to defects in somite segmentation and differentiation. Moreover, expression of mRNA encoding Notch1 and Dll1 (delta-like gene 1), a vertebrate Notch ligand, is markedly reduced in the presomitic mesoderm of PS1-/- embryos compared to controls. Hence, PS1 is required for the spatiotemporal expression of Notch1 and Dll1, which are essential for somite segmentation and maintenance of somite borders. |
| Links |
PubMed Online version:10.1038/387288a0 |
| Keywords |
Animals; Body Patterning/genetics; Body Patterning/physiology; Central Nervous System/blood supply; Central Nervous System/embryology; Embryonic and Fetal Development/genetics; Embryonic and Fetal Development/physiology; Gene Targeting; Intracellular Signaling Peptides and Proteins; Membrane Proteins/biosynthesis; Membrane Proteins/genetics; Membrane Proteins/physiology; Mesoderm/metabolism; Mice; Presenilin-1; Protein Precursors/physiology; Receptor, Notch1; Receptors, Cell Surface; Transcription Factors |
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Significance
Annotations
| Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
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