International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


POSTER 67 - THE MOUSE ORTHOLOG OF THE HUMAN FAC1 GENE: MOLECULAR AND FUNCTIONAL ANALYSIS OF A NOVEL GENE TRAP MOUSE LINE

Vauti F
Department of Cell- & Molecular Biology, Institute of Biochemistry and Biotechnology, Technical University of Braunschweig, Spielmannstrasse 7, D-38106 Braunschweig

Co-Authors: 1) Goller T, 1) Suresh Kumar R, 2) Ruiz P, 1) Arnold HH
Institutions: 1) Department of Cell & Molecular Biology, Institute of Biochemistry and Biotechnology, Technical University of Braunschweig, Spielmannstrasse 7, D-38106 Braunschweig, 2) Max-Planck-Institute for Molecular Genetics, Fabeckstraβe 60-62, D-14195 Berlin

The human FAC1 (fetal ALZ50 reactive clone 1) protein was first discovered by use of the monoclonal antibody ALZ50 in amyloid plaques of Alzheimer disease (AD) patients. FAC1 is a novel transcriptional regulator with DNA binding ability. Here we describe the characteristics of the mouse ortholog (85% homology to human) and the expression pattern during mouse development. The mouse Fac1 gene maps to chromosome 11 and, as in humans, consists of 10 exons. Although no alternatively spliced variants were reported for the human gene, we detected three splice variants in the mouse. Variant I contains all 10 exons, variant II lacks exon 6 and variant III lacks exons 5 and 6. Analysis of a gene trap mouse line in which the endogenous gene was interrupted and fused to a lacZ reporter gene shows developmentally regulated expression of Fac1. At E7.5 the gene is expressed in embryonic ectoderm. At E8.5 expression is detected in the neural fold. At later stages, expression occurs in heart (E9.5) and CNS (E10.5). At E16.5 the gene is widely expressed in nearly all tissues, whereas in adult organs the expression is limited. Homozygous Fac1GT/GT mutants die during early embryogenesis indicating that Fac1 has an essential role during development.


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