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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
|
pubmed:dateCreated |
1993-6-23
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pubmed:abstractText |
Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a DNA duplication at chromosome 17p11.2. In view of the point mutation in the gene for peripheral myelin protein pmp-22/gas-3 in Trembler mice, a murine model for CMT1A, we have analysed whether this gene is altered in CMT1A. Here we show that the human homologue of the murine pmp-22 gene is located within the CMT1A DNA duplication, which is a direct repeat and does not interrupt the coding region of PMP-22. Expression of PMP-22 in CMT1A fibroblasts is similar to expression in control fibroblasts. Increased gene dosage or altered PMP-22 expression in the peripheral nervous system are therefore possible mechanisms by which PMP-22 is involved in CMT1A.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
Jun
|
pubmed:issn |
1061-4036
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
1
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pubmed:owner |
NLM
|
pubmed:authorsComplete |
N
|
pubmed:pagination |
166-70
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:1303229-Base Sequence,
pubmed-meshheading:1303229-Charcot-Marie-Tooth Disease,
pubmed-meshheading:1303229-DNA,
pubmed-meshheading:1303229-Gene Expression,
pubmed-meshheading:1303229-Humans,
pubmed-meshheading:1303229-Molecular Sequence Data,
pubmed-meshheading:1303229-Multigene Family,
pubmed-meshheading:1303229-Myelin Proteins,
pubmed-meshheading:1303229-Polymerase Chain Reaction,
pubmed-meshheading:1303229-Repetitive Sequences, Nucleic Acid
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pubmed:year |
1992
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pubmed:articleTitle |
The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.
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pubmed:affiliation |
Department of Neurology, Academical Medical Center, Amsterdam, The Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|