Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1993-2-8
pubmed:databankReference
pubmed:abstractText
Friedreich ataxia (FRDA) is an autosomal recessive degenerative disorder that affects the cerebellum, spinal cord, and peripheral nerves. The FRDA gene was localized in 9q13-q21 within 0.7 centimorgan of the D9S5 and D9S15 loci. One recently reported recombination event and haplotype analysis in a population with a founder effect suggested that the FRDA locus is on the D9S5 side. Using a conserved probe from the D9S5 locus, we have now identified an approximately 7-kilobase (kb) transcript and report cloning of its cDNA. The corresponding gene, X11, extends at least 80 kb in a direction opposite D9S15. The gene is expressed in the brain, including the cerebellum, but is not detectable in several nonneuronal tissues and cell lines. In situ hybridization of adult mouse brain sections showed prominant expression in the granular layer of the cerebellum. Expression was also found in the spinal cord. The cDNA contains an open reading frame encoding a 708-amino acid sequence that shows no significant similarity to other known proteins but contains a unique, 24-residue-long, putative transmembrane segment. On the basis of its genomic localization and its neuronal site of expression, particularly in the cerebellum, this "pioneer" gene represents a candidate for FRDA. Direct evidence of its involvement in FRDA will require a search for causative point mutations in patients.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-1347194, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-1353054, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-16453446, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-1916823, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-1968638, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-2004770, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-2231712, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-2294745, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-2378348, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-2423876, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-2438557, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-2563350, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-2648158, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-2876518, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-2899844, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-2929596, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-2935194, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-2983426, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-3838905, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-487306, http://linkedlifedata.com/resource/pubmed/commentcorrection/7678331-6502707
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0027-8424
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
90
pubmed:geneSymbol
FRDA, X11
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
109-13
pubmed:dateRevised
2010-9-13
pubmed:meshHeading
pubmed-meshheading:7678331-Adaptor Proteins, Signal Transducing, pubmed-meshheading:7678331-Amino Acid Sequence, pubmed-meshheading:7678331-Animals, pubmed-meshheading:7678331-Base Sequence, pubmed-meshheading:7678331-Brain, pubmed-meshheading:7678331-Cells, Cultured, pubmed-meshheading:7678331-Chromosome Banding, pubmed-meshheading:7678331-Chromosome Mapping, pubmed-meshheading:7678331-Chromosomes, Human, Pair 9, pubmed-meshheading:7678331-Cloning, Molecular, pubmed-meshheading:7678331-DNA, pubmed-meshheading:7678331-Fetus, pubmed-meshheading:7678331-Friedreich Ataxia, pubmed-meshheading:7678331-Gene Library, pubmed-meshheading:7678331-Humans, pubmed-meshheading:7678331-In Situ Hybridization, pubmed-meshheading:7678331-Mice, pubmed-meshheading:7678331-Molecular Sequence Data, pubmed-meshheading:7678331-Nerve Tissue Proteins, pubmed-meshheading:7678331-Nervous System, pubmed-meshheading:7678331-Nervous System Physiological Phenomena, pubmed-meshheading:7678331-Oligodeoxyribonucleotides, pubmed-meshheading:7678331-Organ Specificity, pubmed-meshheading:7678331-Polymerase Chain Reaction, pubmed-meshheading:7678331-RNA, pubmed-meshheading:7678331-Restriction Mapping, pubmed-meshheading:7678331-Spinal Cord
pubmed:year
1993
pubmed:articleTitle
Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system.
pubmed:affiliation
Département de Génétique Humaine, Centre National de la Recherche Scientifique, U.184 de l'Institut National de la Santé et de la Recherche Médicale, Faculté de Médecine, Strasbourg, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't