Skip to main content
Log in

Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Askanas V, Valle D, Kaiser-Kupfer MI, Takki K, Engel WK, Blumenkopf B (1980) Cultured muscle fibers of gyrate atrophy patients: tubules, ornithine toxicity and OAT deficiency. Neurology (NY) 30:368

    Google Scholar 

  • Bhattacharya SS, Wright AF, Clayton JF, Price WH, Phillips CI, McKeown CME,Jay M, Bird AC, Pearson PL, Southern EM, Evans HJ (1984) Close linkage between X-linked retinitis pigmentosum and a restriction fragment polymorphism identified by recombinant DNA probe L1 28. Nature 309:253–255

    Google Scholar 

  • Bruns GAP, Gusella JF, Keys C, Leary AC, Housman D, Gerald PS (1982) Isolation of X-chromosome DNA sequences. Adv Exp Med Biol 154:60–72

    Google Scholar 

  • Feinberg AP, Vogelstein B (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 137:266–267

    Google Scholar 

  • Gal A, Bleeker-Wagemakers L, Wienker TF, Warburg M, Ropers HH (1985) Localization of the gene for Norrie disease by linkage to the DXS7 locus. Cytogenet Cell Genet 40:633

    Google Scholar 

  • Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins P, Ottina K, Wallace MR, Sakaguchi AY, Young AB, Shoulson I, Bonilla E, Martin JB (1983) A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306:234–238

    Google Scholar 

  • Hofker MH, Bergen AAB, Skraastad MI, Bakker E, Francke U, Wieringa B, bartley J, van Ommen GJB, Pearson PL (1986) Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS 148 near the locus for Duchenne muscular dystrophy. Hum Genet 74:275–279

    Google Scholar 

  • Janssen AJM, Plakke T, Trijbels FJM, Sengers RCA, Monnens LAH (1981) L-ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy. Clin Chim Acta 113:213–216

    Google Scholar 

  • Lindgren V, de Martinville B, Horwich AL, Rosenberg LE, Francke U (1984) Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. Science 226:698–700

    Google Scholar 

  • Mohandas T, Shapiro LJ, Sparkes RS, Sparkes MC (1979) Regional assignment of the steroid sulfatase-X-linkedichthyosis locus: implications for a noninactivated region on the region on the short arm of the human X chromosome. Proc Natl Acad Sci USA 76: 5779–5783

    Google Scholar 

  • Mukai S, Dryja TP, Bruns GAP, Aldridge JF, Berson EL (1985) Linkage between the X-linked retinitis pigmentosa locus and the L1.28 locus. Am J Ophthalmol 100:225–229

    Google Scholar 

  • Nussbaum RL, Lewis RA, Lesko JG, Ferrell R (1985) Mapping X-linked ophthalmic disease. II. Linkage relationships of X-linked retinitis pigmentosa to X chromosome short arm markers. Hum Genet 70:45–50

    Google Scholar 

  • O'Donnell JJ, Sandman RP, Martin SR (1977) Deficient L-ornithine 2-oxoacid aminotransferase activity in cultured fibroblasts from a patient with gyrate atrophy of the retina. Biochem Biophys Res Commun 79:396–399

    Google Scholar 

  • O'Donnell JJ, Vannas-Sulonen KM, Shows TB, Cox DR (1985) Ornithine aminotransferase (OAT) maps to human chromosome 10 and mouse chromosome 7. Cytogenet Cell Genet 40:716

    Google Scholar 

  • Owerbach D, Bell GI, Rutter WJ, Brown JA, Shows TB (1981) The insulin gene is located on the short arm of chromosome 11 in humans. Diabetes 30:267–270

    Google Scholar 

  • Ramesh V, Shaffer M, Allaire J, Shih V, Gusella JF (1986) Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase. DNA 5:493–501

    Google Scholar 

  • Shih VE, Berson EL, Mandell R, Schmidt SY (1978) Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina. Am J Hum Genet 30:174–179

    Google Scholar 

  • Shows TB, Brown JA, Haley LL, Byers MG, Eddy RL, Cooper ES, Goggin AP (1978) Assignment of the beta glucuronidase structural gene to the pter→q22 region of chromosome 7 in man. Cytogenet Cell Genet 21:99–109

    Google Scholar 

  • Shows TB, Eddy R, Haley L, Byers M, Henry M, Fujita T, Matsui H, Taniguchi T (1984) Interleukin 2 (IL2) is assigned to human chromosome 4. Somatic Cell Mol Genet 16:315–318

    Google Scholar 

  • Simell O, Takki K (1973) Raised plasma ornithine and gyrate atrophy of the choroid and retina. Lancet I:1030–1033

    Google Scholar 

  • Sipila I, O'Donnell JJ, Simell O (1981) Gyrate atrophy of the choroid and retina with hyperonithinemia. J Clin Invest 67:1805–1807

    Google Scholar 

  • Takki K (1974) Gyrate atrophy of the choroid and retina associated with hyperornithinemia. Br J Ophthalmol 58:3–23

    Google Scholar 

  • Valle D, Kaiser-Kupfer MI, Del Valle LA (1977) Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes. Proc Natl Acad Sci USA 74:5159–5161

    Google Scholar 

  • Wieacker P, Davies KE, Cooke HJ, Pearson PL, Williamson R, Bhattacharya S, Zimmaer J, Ropers HH (1984) Toward a complete linkage map of the human X-chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids. Am J Hum Genet 36:265–276

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Ramesh, V., Eddy, R., Bruns, G.A. et al. Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes. Hum Genet 76, 121–126 (1987). https://doi.org/10.1007/BF00284906

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00284906

Keywords

Navigation