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PMID: 2886418 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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

Human genetics ·Vol. 76 ·No. 2 ·1987-06-00 ·Pages 121-6

Ramesh V, Eddy R, Bruns GA, Shih VE, Shows TB, Gusella JF

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.

MeSH Terms
Animals Base Sequence Chromosome Mapping Chromosomes, Human, Pair 10 DNA/genetics DNA Restriction Enzymes Deoxyribonucleases, Type II Site-Specific Genetic Markers Humans Hybrid Cells Mice Ornithine-Oxo-Acid Transaminase/genetics Polymorphism, Restriction Fragment Length Transaminases/genetics X Chromosome
Chemicals
Genetic Markers DNA Transaminases Ornithine-Oxo-Acid Transaminase DNA Restriction Enzymes endodeoxyribonuclease ScaI Deoxyribonucleases, Type II Site-Specific
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Ramesh V
Eddy R
Bruns G A
Shih V E
Shows T B
Gusella J F
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00284906
Published
1987-06-00
Pages
121-6
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
Grants
NEI NIH HHS · EYO5633 · United States
NINDS NIH HHS · NS05096 · United States
NINDS NIH HHS · NS20012 · United States
External Links
PubMed source DOI: 10.1007/BF00284906 View journal details
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