tailieunhanh - Báo cáo khoa học: Genomic organization, tissue distribution and deletion mutation of human pyridoxine 5¢-phosphate oxidase

We used a combined computer and biochemical approach to characterize human pyridoxine 5¢-phosphate oxidase (PNPO).The human PNPOgene is composed of seven exons and six introns, and spans approximately 8 exon/intron junctions contain the gt/ag consensus splicing absence of TATA-like sequences, the presence of Sp1-binding sites and more importantly, the presence of CpG islands in the regulatory region of thePNPOgene are characteristic features of housekeeping genes. | Eur. J. Biochem. 271 2452-2461 2004 FEBS 2004 doi Genomic organization tissue distribution and deletion mutation of human pyridoxine 5 -phosphate oxidase Jeong Han Kang1 Mi-Lim Hong1 Dae Won Kim2 Jinseu Park2 Tae-Cheon Kang3 Moo Ho Won3 Nam-In Baek4 Byung Jo Moon1 Soo Young Choi2 and Oh-Shin Kwon1 1 Department of Biochemistry College of Natural Sciences Kyungpook National University Taegu Korea department of Genetic Engineering Division of Life Sciences and 3Department of Anatomy College of Medicine Hallym University Chunchon Korea 4Graduate School of Biotechnology Plant Metabolism Research Center Kyunghee University Suwon Korea We used a combined computer and biochemical approach to characterize human pyridoxine 5 -phosphate oxidase PNPO . The umnnn PNPO gene is composed of seven exons and six introns and spans approximately 8 kb. Alli exon intron junctions contain the gt ag consensus splicing site. The ahsnnee of TATAllike sequenees. the presenee ff Sp1-binding sites and more importantly the presence of CpG islands in the regulatory region of the PNPO gene are characteristic features of housekeeping genes. Northern blot analyses showed two species of poly A RNA of w and w kb at identical intensity whereas Western blot analysis showed that no protein isoform exists in any of the tissues examined. CCR-nesed nmdyste led to toe ÍVm toat two messages are transcribed from a single copy gene and that the size difference is due to differential usage of the polyadenylation signal. The major sties of PNPO expression are liver skeletal muscle and kidneys while a very weak signal was detected in lung. The mRNA matter dot-boot lor mU--tiple human tissues provided a complete map of the tissue distribution not only for PNPO but also for pyridoxal kinase and pyridoxal phosphatase. The dirt a mditaite toat mRNA expression of all three enzymes essential for vitamin B6 metabolism is ubiquitous but is highly regulated at the level of .

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