Here we describe the characterization of the human glycosaminoglycan glucuronyltransferase I gene (GlcAT-I) and a related pseudogene. The GlcAT-I gene was localized to human chromosome 11q12–q13 by in situ hybridization of metaphase chromosomes. GlcAT-I spanned 7kb of human genomic DNA and was divided into five exons. Northern blot analysis showed that GlcAT-I exhibited ubiquitous but markedly different expressions in the human tissues examined. The GlcAT-I promoter was approx. 3-fold more active in a melanoma cell line than in a hepatoma cell line, providing evidence for the differential regulation of the gene's expression. Stepwise 5′ deletions of the promoter identified a strong enhancer element between −303 and −153bp that included binding motifs for Ets, CREB (cAMP-response-element-binding protein) and STAT (signal transducers and activators of transcription). Screening of a human genomic library identified one additional distinct genomic clone containing an approx. 1.4kb sequence region that shared an overall 95.3% nucleotide identity with exons 1–5 of GlcAT-I. However, a lack of intron sequences, as well as the presence of several nucleotide mutations, insertions and deletions that disrupted the potential GlcAT-I reading frame, suggested that the clone contained a processed pseudogene. The pseudogene was localized to chromosome 3. The human genome therefore contains two related GlcAT-I genes that are located on separate chromosomes.
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September 2001
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Research Article|
September 10 2001
Human glycosaminoglycan glucuronyltransferase I gene and a related processed pseudogene: genomic structure, chromosomal mapping and characterization
Hiroshi KITAGAWA;
Hiroshi KITAGAWA
1
Department of Biochemistry, Kobe Pharmaceutical University, Higashinada-ku, Kobe 658-8558, Japan
1To whom correspondence should be addressed (e-mail kitagawa@kobepharma-u.ac.jp).
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Masateru TAOKA;
Masateru TAOKA
Department of Biochemistry, Kobe Pharmaceutical University, Higashinada-ku, Kobe 658-8558, Japan
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Yuko TONE;
Yuko TONE
Department of Biochemistry, Kobe Pharmaceutical University, Higashinada-ku, Kobe 658-8558, Japan
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Kazuyuki SUGAHARA
Kazuyuki SUGAHARA
Department of Biochemistry, Kobe Pharmaceutical University, Higashinada-ku, Kobe 658-8558, Japan
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Publisher: Portland Press Ltd
Received:
March 06 2001
Revision Received:
May 29 2001
Accepted:
July 16 2001
Online ISSN: 1470-8728
Print ISSN: 0264-6021
The Biochemical Society, London ©2001
2001
Biochem J (2001) 358 (3): 539–546.
Article history
Received:
March 06 2001
Revision Received:
May 29 2001
Accepted:
July 16 2001
Citation
Hiroshi KITAGAWA, Masateru TAOKA, Yuko TONE, Kazuyuki SUGAHARA; Human glycosaminoglycan glucuronyltransferase I gene and a related processed pseudogene: genomic structure, chromosomal mapping and characterization. Biochem J 15 September 2001; 358 (3): 539–546. doi: https://doi.org/10.1042/bj3580539
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