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rdf:type |
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lifeskim:mentions |
umls-concept:C0009015,
umls-concept:C0015127,
umls-concept:C0017262,
umls-concept:C0026882,
umls-concept:C0027746,
umls-concept:C0184304,
umls-concept:C0185117,
umls-concept:C0240795,
umls-concept:C0301625,
umls-concept:C0392756,
umls-concept:C1314792,
umls-concept:C2003941,
umls-concept:C2911684
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pubmed:issue |
5
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|
pubmed:dateCreated |
1997-6-30
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pubmed:databankReference |
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pubmed:abstractText |
The mouse vibrator mutation causes an early-onset progressive action tremor, degeneration of brain stem and spinal cord neurons, and juvenile death. We cloned the vibrator mutation using an in vivo positional complementation approach and complete resequencing of the resulting 76 kb critical region from vibrator and its parental chromosome. The mutation is an intracisternal A particle retroposon insertion in intron 4 of the phosphatidylinositol transfer protein alpha gene, causing a 5-fold reduction in RNA and protein levels. Expression of neurofilament light chain is also reduced in vibrator, suggesting one signaling pathway that may underlie vibrator pathology. The vibrator phenotype is suppressed in one intercross. We performed a complete genome scan and mapped a major suppressor locus (Mvb-1) to proximal chromosome 19.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0896-6273
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pubmed:author |
pubmed-author:BronsonR TRT,
pubmed-author:GaleA MAM,
pubmed-author:HamiltonB ABA,
pubmed-author:HawkinsT LTL,
pubmed-author:KerrebrockA WAW,
pubmed-author:KruglyakLL,
pubmed-author:LanderE SES,
pubmed-author:MuellerK LKL,
pubmed-author:NemhauserJ LJL,
pubmed-author:ReeveM PMP,
pubmed-author:RubinE MEM,
pubmed-author:SmithD JDJ,
pubmed-author:van BerkelVV
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pubmed:issnType |
Print
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pubmed:volume |
18
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pubmed:owner |
NLM
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|
pubmed:authorsComplete |
Y
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pubmed:pagination |
711-22
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:9182797-Alleles,
pubmed-meshheading:9182797-Amino Acid Sequence,
pubmed-meshheading:9182797-Animals,
pubmed-meshheading:9182797-Atrophy,
pubmed-meshheading:9182797-Brain Stem,
pubmed-meshheading:9182797-Carrier Proteins,
pubmed-meshheading:9182797-Chromosome Mapping,
pubmed-meshheading:9182797-Cloning, Molecular,
pubmed-meshheading:9182797-Female,
pubmed-meshheading:9182797-Gene Expression Regulation,
pubmed-meshheading:9182797-Genetic Complementation Test,
pubmed-meshheading:9182797-Genome,
pubmed-meshheading:9182797-Homozygote,
pubmed-meshheading:9182797-Male,
pubmed-meshheading:9182797-Membrane Proteins,
pubmed-meshheading:9182797-Mice,
pubmed-meshheading:9182797-Mice, Inbred C3H,
pubmed-meshheading:9182797-Mice, Inbred C57BL,
pubmed-meshheading:9182797-Mice, Inbred DBA,
pubmed-meshheading:9182797-Mice, Neurologic Mutants,
pubmed-meshheading:9182797-Molecular Sequence Data,
pubmed-meshheading:9182797-Nerve Degeneration,
pubmed-meshheading:9182797-Nervous System Diseases,
pubmed-meshheading:9182797-Neurofilament Proteins,
pubmed-meshheading:9182797-Open Reading Frames,
pubmed-meshheading:9182797-Phosphatidylinositols,
pubmed-meshheading:9182797-Phospholipid Transfer Proteins,
pubmed-meshheading:9182797-Sequence Analysis, DNA,
pubmed-meshheading:9182797-Spinal Cord
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|
pubmed:year |
1997
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|
pubmed:articleTitle |
The vibrator mutation causes neurodegeneration via reduced expression of PITP alpha: positional complementation cloning and extragenic suppression.
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pubmed:affiliation |
Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, Non-P.H.S.,
Research Support, Non-U.S. Gov't
|
