Document Detail


A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.
MedLine Citation:
PMID:  1301936     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Gyrate atrophy of the choroid and retina (GA) is an autosomal recessive disorder in which a deficiency of the mitochondrial matrix enzyme ornithine aminotransferase (OAT) leads to progressive blindness. Previously, we and others have reported a number of missense mutations and splice defects in the OAT gene associated with GA. In the present case, through sequencing of the PCR amplified cDNA products, we have detected a novel 15-bp deletion within exon 5 of the OAT gene which retains the original reading frame. The deleted PCR product is the only one produced from the patient's mRNA, while mRNA from the patient's mother yields both deleted and normal length PCR products. The alternate, apparently nonexpressing OAT allele in this patient was inherited from the father, who displays only the normal length PCR product. The codon at the deletion joint remains unaltered, predicting the loss of the pentapeptide Tyr-Thr-Val-Lys-Gly without any other amino acid change. The breakpoints are adjacent to or within two copies of a 4-bp direct repeat, which may have implications for the mechanism of deletion.
Authors:
J K Park; J J O'Donnell; V E Shih; J F Gusella; V Ramesh
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Human mutation     Volume:  1     ISSN:  1059-7794     ISO Abbreviation:  Hum. Mutat.     Publication Date:  1992  
Date Detail:
Created Date:  1993-06-10     Completed Date:  1993-06-10     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  293-7     Citation Subset:  IM    
Affiliation:
Molecular Neurogenetics Laboratory, Massachusetts General Hospital East, Charlestown.
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Sequence
Base Sequence
Child
DNA / genetics
DNA Mutational Analysis
Exons
Gyrate Atrophy / enzymology*,  genetics*
Humans
Male
Molecular Sequence Data
Ornithine-Oxo-Acid Transaminase / deficiency,  genetics*
Polymerase Chain Reaction
RNA, Messenger / genetics
Sequence Deletion*
Grant Support
ID/Acronym/Agency:
EY05633/EY/NEI NIH HHS; HG00169/HG/NHGRI NIH HHS; NS05096/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/RNA, Messenger; 9007-49-2/DNA; EC 2.6.1.13/Ornithine-Oxo-Acid Transaminase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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