Presenilin 1 is required for Notch 1 and Dll1 expression in the paraxial mesoderm

Philip C. Wong, Hui Zheng, Hua Chen, Mark W. Becher, Dalip J. S. Sirinathsinghji, Myrna E. Trumbauer, Howard Y. Chen, Donald L. Price, Lex H. T. Van der Ploeg and Sangram S. Sisodia
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Philip C. Wong: The Johns Hopkins University School of Medicine
Hua Chen: The Johns Hopkins University School of Medicine
Mark W. Becher: The Johns Hopkins University School of Medicine
Donald L. Price: The Johns Hopkins University School of Medicine
Sangram S. Sisodia: The Johns Hopkins University School of Medicine

Nature, 1997, vol. 387, issue 6630, 288-292

Abstract: 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 protein1, presenilin 1 (PS1)2 and presenilin 2 (PS2)3,4. Mutations in PS1 are linked to about 25% of cases of early-onset familial Alzheimer's disease5. PS1, which is endoproteolytically processed in vivo6, is a multipass transmembrane protein and is a functional homologue of SEL-12 (ref. 7), a Caenorhabditis elegans protein that facilitates signalling mediated by the Notch/LIN-12 family of receptors8,9. 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 Notch 1 and DII 1 (delta-like gene I)10, 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 Notch 1 and Dll 1, which are essential for somite segmentation and maintenance of somite borders11–13.

Date: 1997
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DOI: 10.1038/387288a0

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