Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes
- 1 June 1987
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 76 (2) , 121-126
- https://doi.org/10.1007/bf00284906
Abstract
We have used a full length cDNA clone to determine the chromosomal location ofthegene encoding human ornithine aminotransferase (OAT), a mitochondrial matrix enzyme. Southern blot analysis of ScaI-digested DNA from 34 human-mouse somatic cell hybrids revealed 11 human fragments. Three fragments mapped to chromosome 10q23-10qter, confirming the previous provisional assignment of the functional gene to this autosome by analysis of OAT expression in somatic cell hybrids (O'Donnell et al. 1985). The remaining eight fragments were assigned to the X chromosome, and regionally assigned to Xp21-Xp11 by use of an X-chromosome mapping panel. These X chromosome sequences could represent pseudogenes, or related members of a multigene family. Two of the X chromosome fragments are alternate alleles of a restriction fragment length polymorphism (RFLP) making this OAT-related locus an excellent genetic marker. The RFLP may now be used to determine any possible relationship between this locus and several X-linked eye defects.Keywords
This publication has 21 references indexed in Scilit:
- Investigation of Gyrate Atrophy Using a cDNA Clone for Human Ornithine AminotransferaseDNA, 1986
- Human Ornithine Transcarbamylase Locus Mapped to Band Xp21.1 Near the Duchenne Muscular Dystrophy LocusScience, 1984
- Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28Nature, 1984
- A technique for radiolabeling DNA restriction endonuclease fragments to high specific activityAnalytical Biochemistry, 1984
- L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophyClinica Chimica Acta; International Journal of Clinical Chemistry, 1981
- Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics.Journal of Clinical Investigation, 1981
- Assignment of the β-glucuronidase structural gene to the pter→q22 region of chromosome 7 in manCytogenetic and Genome Research, 1978
- Deficient L-ornithine: 2-oxoacid aminotransferase activity in cultured fibroblasts from a patient with gyrate atrophy of the retinaBiochemical and Biophysical Research Communications, 1977
- Gyrate atrophy of the choroid and retina associated with hyperornithinaemia.British Journal of Ophthalmology, 1974
- RAISED PLASMA-ORNITHINE AND GYRATE ATROPHY OF THE CHOROID AND RETINAThe Lancet, 1973