Chromosomal Mapping, Isolation, and Characterization of the Mouse Xanthine Dehydrogenase Gene

Xanthine dehydrogenase (XD) is a key enzyme in the catabolism of purines. A recently isolated XD cDNA clone (Terao et al, Biochem. J. 283, 863-870, 1992) was used to analyze the genomic structure and chromosomal location of this gene. XD was found to be a single-copy gene approximately 70 kb long wi...

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Veröffentlicht in:Genomics (San Diego, Calif.) Calif.), 1994-09, Vol.23 (2), p.390-402
Hauptverfasser: Cazzaniga, Giovanni, Terao, Mineko, Lo Schiavo, Pietro, Galbiati, Ferruccio, Segalla, Fabio, Seldin, Michael F., Garattini, Enrico
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container_issue 2
container_start_page 390
container_title Genomics (San Diego, Calif.)
container_volume 23
creator Cazzaniga, Giovanni
Terao, Mineko
Lo Schiavo, Pietro
Galbiati, Ferruccio
Segalla, Fabio
Seldin, Michael F.
Garattini, Enrico
description Xanthine dehydrogenase (XD) is a key enzyme in the catabolism of purines. A recently isolated XD cDNA clone (Terao et al, Biochem. J. 283, 863-870, 1992) was used to analyze the genomic structure and chromosomal location of this gene. XD was found to be a single-copy gene approximately 70 kb long with 36 exons containing the transcribed sequence. The length of the mouse XD gene was much longer and the structure more complex than those of the Drosophila and Calliphora homologs. The locus encoding the XD gene (designated Xd) was mapped to the distal part of mouse chromosome 17 by haplotype analysis of 114 interspecific backcross mice. Although Xd inactivation may be responsible for xanthinuria, a rare human genetic disease, this genetic locus is not a candidate for any previously described mouse mutation. The transcription start site was defined by primer extension and RNase mapping analysis, using liver mRNA. No other transcription start sites were identified in the liver and a variety of other organs after treatment with an interferon inducer. Transient transfection analysis in NIH3T3, tend, and COS cells with an appropriate reporter gene demonstrated that a functional promoter is located within the first 268 bp preceding the transcriptional initiation site.
doi_str_mv 10.1006/geno.1994.1515
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subjects Amino Acid Sequence
Animals
Base Sequence
Biological and medical sciences
Chromosome Mapping
Cloning, Molecular
Crosses, Genetic
Diptera - enzymology
Diptera - genetics
DNA Primers - genetics
DNA, Complementary - genetics
Exons
Fundamental and applied biological sciences. Psychology
Genes. Genome
Genetic Markers
Humans
Introns
Mice
Mice, Inbred C3H
Molecular and cellular biology
Molecular genetics
Molecular Sequence Data
Muridae
Xanthine Dehydrogenase - genetics
title Chromosomal Mapping, Isolation, and Characterization of the Mouse Xanthine Dehydrogenase Gene
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