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The Journal of Immunology, Vol 154, Issue 3 1239-1245, Copyright © 1995 by American Association of Immunologists

ARTICLES

Characterization of human Fas gene. Exon/intron organization and promoter region

J Cheng, C Liu, WJ Koopman and JD Mountz
Department of Medicine, University of Alabama at Birmingham.

Ligation of the Fas cell-surface molecule induces apoptosis. Defective Fas-mediated apoptosis has been associated with spontaneous autoimmunity in mice. Using human Fas/Apo-1 cDNA as a probe, we have molecularly cloned and characterized the human Fas chromosomal gene. The gene consists of nine exons and spans more than 26 kilobases of DNA. The lengths of introns vary from > 14 kilobases at the 5' end of the gene to 152 base pairs upstream of the exon encoding the transmembrane domain. The domain structure of the human Fas is encoded by an exon or a set of exons. Primer extension analysis revealed three major transcription initiation sites. The promoter region lacked canonical "TATA" and "CAAT" boxes but was a "GC-rich" sequence, and contained consensus sequences for AP-1, GF-1, NY-Y, CP-2, EBP20, and c- myb. These data provide the first characterization of the human Fas gene and insight into its regulatory region.


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