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- Title
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.
- Authors
Yoshida, S.; Harada, H.; Nagai, H.; Fukino, K.; Teramoto, A.; Emi, M.
- 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 633bp 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 Spl, 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, Leul419Pro and Ile1522Met.
- Subjects
GENES; GENETIC polymorphisms
- Publication
Journal of Human Genetics, 2002, Vol 47, Issue 11, p614
- ISSN
1434-5161
- Publication type
Article
- DOI
10.1007/s100380200094