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. 1997 May 15;387(6630):288-92.
doi: 10.1038/387288a0.

Presenilin 1 is required for Notch1 and DII1 expression in the paraxial mesoderm

P C Wong  1 , H Zheng, H Chen, M W Becher, D J Sirinathsinghji, M E Trumbauer, H Y Chen, D L Price, L H Van der Ploeg, S S Sisodia
Affiliations

Presenilin 1 is required for Notch1 and DII1 expression in the paraxial mesoderm

P C Wong et al. Nature. .

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.

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