Abstract.
When characterizing the 5′ flanking region of the c-Jun NH2-terminal kinase 3 (JNK3) gene at 4q21–22, where frequent allelic losses and loss of expression had been detected in patients with brain tumors and hepatocellular carcinomas, we discovered that the Fas-associated phosphatase-1 (FAP-1) gene was located only 633 bp upstream from JNK3 in a head-to-head orientation. A short G/C-rich region between the cap sites of the two genes suggested that they might share a bidirectional promoter region that appeared to contain multiple cis elements, including Sp1, AP-1, AP-2, GATA-1, a GC box, and a CCAAT box. The FAP-1 gene, consisting of 48 exons, initiates transcription within exon 2 and terminates in exon 48. Exons 2–5, 21–23, 25–28, 29–30, 33–34, and 34–36 encode six Gly-Leu-Gly-Phe repeat domains, and exons 12–17 and 44–88 encode the membrane-binding and catalytic domains, respectively. Seven polymorphisms were identified within functional domains or the putative promoter region, including two with amino acid substitutions, Leu1419Pro and Ile1522Met.
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Received: April 5, 2002 / Accepted: July 25, 2002
Correspondence to:M. Emi
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Yoshida, S., Harada, H., Nagai, H. et al. Head-to-head juxtaposition of Fas-associated phosphatase-1 (FAP-1) and c-Jun NH2-terminal kinase 3 (JNK3) genes: genomic structure and seven polymorphisms of the FAP-1 gene. J Hum Genet 47, 614–619 (2002). https://doi.org/10.1007/s100380200094
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DOI: https://doi.org/10.1007/s100380200094
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