Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
20
pubmed:dateCreated
1989-12-1
pubmed:databankReference
pubmed:abstractText
We determined the nucleotide sequences of junctional regions associated with large deletions of mitochondrial DNA found in four unrelated individuals with a phenotype of chronic progressive external ophthalmoplegia. In each patient, the deletion breakpoint occurred within a directly repeated sequence of 13-18 base pairs, present in different regions of the normal mitochondrial genome-separated by 4.5-7.7 kilobases. In two patients, the deletions were identical. When all four repeated sequences are compared, a consensus sequence of 11 nucleotides emerges, similar to putative recombination signals, suggesting the involvement of a recombinational event. Partially deleted and normal mitochondrial DNAs were found in all tissues examined, but in very different proportions, indicating that these mutations originated before the primary cell layers diverged.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-2563557, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-2711184, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-2824459, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-2830540, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-2841928, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-2849368, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-2895391, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-2898614, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-2902791, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-2903984, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-3172236, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-3282169, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-3412580, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-3478691, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-3779373, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-3818645, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-3856104, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-4365762, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-4580084, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-5516343, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-6288254, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-6432847, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-6453653, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-6985477, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-7005693, http://linkedlifedata.com/resource/pubmed/commentcorrection/2813377-7219534
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0027-8424
pubmed:author
pubmed:issnType
Print
pubmed:volume
86
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
8059-62
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1989
pubmed:articleTitle
Directly repeated sequences associated with pathogenic mitochondrial DNA deletions.
pubmed:affiliation
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't