Literature DB >> 2886418

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

V Ramesh, R Eddy, G A Bruns, V E Shih, T B Shows, J F Gusella.   

Abstract

We have used a full length cDNA clone to determine the chromosomal location of the gene encoding human ornithine aminotransferase (OAT), a mitochondrial matrix enzyme. Southern blot analysis of Sca I-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.

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Year:  1987        PMID： 2886418     DOI： 10.1007/bf00284906

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  20 in total

1.  Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers.

Authors:  R L Nussbaum; R A Lewis; J G Lesko; R Ferrell
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

2.  Raised plasma-ornithine and gyrate atrophy of the choroid and retina.

Authors:  O Simell; K Takki
Journal:  Lancet       Date:  1973-05-12       Impact factor: 79.321

3.  "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1984-02       Impact factor: 3.365

4.  A polymorphic DNA marker genetically linked to Huntington's disease.

Authors:  J F Gusella; N S Wexler; P M Conneally; S L Naylor; M A Anderson; R E Tanzi; P C Watkins; K Ottina; M R Wallace; A Y Sakaguchi
Journal:  Nature       Date:  1983 Nov 17-23       Impact factor: 49.962

5.  Linkage between the X-linked retinitis pigmentosa locus and the L1.28 locus.

Authors:  S Mukai; T P Dryja; G A Bruns; J F Aldridge; E L Berson
Journal:  Am J Ophthalmol       Date:  1985-08-15       Impact factor: 5.258

6.  L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy.

Authors:  A J Janssen; T Plakké; F J Trijbels; R C Sengers; L A Monnens
Journal:  Clin Chim Acta       Date:  1981-06-18       Impact factor: 3.786

7.  Assignment of the beta-glucuronidase structural gene to the pter leads to q22 region of chromosome 7 in man.

Authors:  T B Shows; J A Brown; L L Haley; M G Byers; R L Eddy; E S Cooper; A P Goggin
Journal:  Cytogenet Cell Genet       Date:  1978

8.  Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics.

Authors:  I Sipilä; O Simell; J J O'Donnell
Journal:  J Clin Invest       Date:  1981-06       Impact factor: 14.808

9.  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.

Authors:  P Wieacker; K E Davies; H J Cooke; P L Pearson; R Williamson; S Bhattacharya; J Zimmer; H H Ropers
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

10.  Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.

Authors:  D Valle; M I Kaiser-Kupfer; L A Del Valle
Journal:  Proc Natl Acad Sci U S A       Date:  1977-11       Impact factor: 11.205
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  18 in total

Review 1.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M R Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

2.  Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.

Authors:  J B Bateman
Journal:  Trans Am Ophthalmol Soc       Date:  1992

Review 3.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

4.  Assignment of the functional gene for human adrenodoxin to chromosome 11q13----qter and of adrenodoxin pseudogenes to chromosome 20cen----q13.1.

Authors:  Y Morel; J Picado-Leonard; D A Wu; C Y Chang; T K Mohandas; B C Chung; W L Miller
Journal:  Am J Hum Genet       Date:  1988-07       Impact factor: 11.025

5.  Gyrate atrophy of the choroid and retina: assignment of the ornithine aminotransferase structural gene to human chromosome 10 and mouse chromosome 7.

Authors:  J J O'Donnell; K Vannas-Sulonen; T B Shows; D R Cox
Journal:  Am J Hum Genet       Date:  1988-12       Impact factor: 11.025

6.  Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.

Authors:  A I McClatchey; D L Kaufman; E L Berson; A J Tobin; V E Shih; J F Gusella; V Ramesh
Journal:  Am J Hum Genet       Date:  1990-11       Impact factor: 11.025

Review 7.  Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

Authors:  P J Rosenfeld; V A McKusick; J S Amberger; T P Dryja
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

8.  Linkage analysis of Norrie disease with an X-chromosomal ornithine aminotransferase locus.

Authors:  J B Bateman; T L Kojis; R M Cantor; C Heinzmann; J T Ngo; M A Spence; G Inana; J D Kivlin; D Curtis; R S Sparkes
Journal:  Trans Am Ophthalmol Soc       Date:  1993

9.  Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.

Authors:  V Ramesh; A I McClatchey; N Ramesh; L A Benoit; E L Berson; V E Shih; J F Gusella
Journal:  Proc Natl Acad Sci U S A       Date:  1988-06       Impact factor: 11.205

10.  Sex chromosome evolution: platypus gene mapping suggests that part of the human X chromosome was originally autosomal.

Authors:  J M Watson; J A Spencer; A D Riggs; J A Graves
Journal:  Proc Natl Acad Sci U S A       Date:  1991-12-15       Impact factor: 11.205
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