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Publication : Polymorphism of the ornithine transcarboxylase locus and control of gene expression.

First Author  Mullins LJ Year  1986
Journal  Mouse News Lett Volume  74
Pages  114 Mgi Jnum  J:14086
Mgi Id  MGI:62263 Citation  Mullins LJ, et al. (1986) Polymorphism of the ornithine transcarboxylase locus and control of gene expression. Mouse News Lett 74:114
abstractText  Full text of MNL contribution: Polymorphism of the ornithine transcarboxylase locus and control of gene expression. Ornithine transcarboxylase (OTC) is a mitochondrial native enzyme encoded by a gene located centromerically on the X chromosome. It is found almost exclusively in the liver of ureotelic animals and, thus, exhibits both tissue-specific inactivation and X-inactivation. A survey of wild and inbred mouse DNAs has revealed at least five polymorphic forms of the OTC gene (in Mus musculus (Denmark), Mus castaneus, Mus spretus and Mus hortulanus compared with inbred strains such as DBA/2J and C57BL/6). Using 5' and 3' cDNA probes (kindly supplied by T. Caskey and G. Veras), it has been possible to identify which regions of the gene exhibit polymorphism. The polymorphism will also allow mapping of the OTC gene with respect to other polymorphic markers on the X chromosome such as HPRT and PGK-1. Initial studies on the methylation of OTC have revealed an uncomplicated banding pattern on Southern analysis. Genomic clones, isolated from a Mus hortulanus library, exhibit a striking scarcity of potential methylation sites. Thus the OTC gene must have a low level of methylation over a large proportion of its length. Efforts are being made to establish methylation sites important in the control of tissue-specificity and X inactivation through the construction of hybrids carrying two distinguishable alleles but preferentially expressing only one allele. (L.J. Mullins and V. Chapman)
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