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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
1988-3-18
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pubmed:abstractText |
Gyrate atrophy of the choroid and retina (GA) is an autosomal recessive chorioretinal degeneration caused by deficiency of the mitochondrial matrix enzyme, ornithine-delta-aminotransferase (OAT). To study the molecular basis of the mutations causing GA, we cloned and sequenced the human OAT cDNA and determined the intron-exon arrangement of the structural gene. Using the cDNA template, we synthesized antisense RNA probes and performed RNase A protection experiments with RNA from four Lebanese GA patients. We found a probe-target mismatch at the 5' end of the first coding exon and amplified this region of the patients' genomic DNA using the polymerase chain reaction. Sequence analysis showed a G----A transition, changing the initiator ATG (methionine) codon to ATA. This mutation segregates with the GA allele in both pedigrees. Initiation of translation at the closest in-frame methionine codon would truncate OAT by 138 amino acids, eliminating the entire mitochondrial leader sequence and 113 amino acids of the mature peptide.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-2415964,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-2438556,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-271968,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-2888005,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-2986678,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-2999980,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-3025214,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-3277257,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-3431465,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-3456579,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-3461561,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-3563511,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-3603027,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-3680504,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-3754226,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-3816496,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-4071043,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-518835,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-6091052,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-6301942,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-6312838,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-6343825,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-6390186,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-6490612,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3339136-7468647
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0021-9738
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
81
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
630-3
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
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pubmed:year |
1988
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pubmed:articleTitle |
An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.
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pubmed:affiliation |
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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