The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A
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 sho...
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| Veröffentlicht in: | Nature genetics 1992-06, Vol.1 (3), p.166-170 |
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| creator | Valentijn, L. J. Bolhuis, P. A. Zorn, I. Hoogendijk, J. E. van den Bosch, N. Hensels, G. W. Stanton, V. P. Housman, D. E. Fischbeck, K. H. Ross, D. A. Nicholson, G. A. Meershoek, E. J. Dauwerse, H. G. van Ommen, G. -J. B. Baas, F. |
| description | 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. |
| doi_str_mv | 10.1038/ng0692-166 |
| format | Article |
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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.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/ng0692-166</identifier><identifier>PMID: 1303229</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Agriculture ; Animal Genetics and Genomics ; Base Sequence ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Charcot-Marie-Tooth Disease - classification ; Charcot-Marie-Tooth Disease - genetics ; DNA - genetics ; Gene Expression ; Gene Function ; Human Genetics ; Humans ; Molecular Sequence Data ; Multigene Family ; Myelin Proteins - genetics ; Polymerase Chain Reaction ; Repetitive Sequences, Nucleic Acid</subject><ispartof>Nature genetics, 1992-06, Vol.1 (3), p.166-170</ispartof><rights>Springer Nature America, Inc. 1992</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c415t-8dfb70995d87c1939edd8c00976b10f708832a2aeb177c60e8babbf6aa06465d3</citedby><cites>FETCH-LOGICAL-c415t-8dfb70995d87c1939edd8c00976b10f708832a2aeb177c60e8babbf6aa06465d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/ng0692-166$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/ng0692-166$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1303229$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Valentijn, L. J.</creatorcontrib><creatorcontrib>Bolhuis, P. A.</creatorcontrib><creatorcontrib>Zorn, I.</creatorcontrib><creatorcontrib>Hoogendijk, J. E.</creatorcontrib><creatorcontrib>van den Bosch, N.</creatorcontrib><creatorcontrib>Hensels, G. W.</creatorcontrib><creatorcontrib>Stanton, V. P.</creatorcontrib><creatorcontrib>Housman, D. E.</creatorcontrib><creatorcontrib>Fischbeck, K. H.</creatorcontrib><creatorcontrib>Ross, D. A.</creatorcontrib><creatorcontrib>Nicholson, G. A.</creatorcontrib><creatorcontrib>Meershoek, E. J.</creatorcontrib><creatorcontrib>Dauwerse, H. G.</creatorcontrib><creatorcontrib>van Ommen, G. -J. B.</creatorcontrib><creatorcontrib>Baas, F.</creatorcontrib><title>The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><addtitle>Nat Genet</addtitle><description>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.</description><subject>Agriculture</subject><subject>Animal Genetics and Genomics</subject><subject>Base Sequence</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Charcot-Marie-Tooth Disease - classification</subject><subject>Charcot-Marie-Tooth Disease - genetics</subject><subject>DNA - genetics</subject><subject>Gene Expression</subject><subject>Gene Function</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Molecular Sequence Data</subject><subject>Multigene Family</subject><subject>Myelin Proteins - genetics</subject><subject>Polymerase Chain Reaction</subject><subject>Repetitive Sequences, Nucleic Acid</subject><issn>1061-4036</issn><issn>1546-1718</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkLFOwzAURS0EKlBY2JE8MYBCn-PEdsaqgoJERSXKHDnxSxuUJsFOhm78A3_Il2CUSixITO9K97wzXEIuGNwy4GpSr0EkYcCEOCAnLI5EwCRThz6DYEEEXByTU-feAFgUgRqREePAwzA5IWa1QdqiLdsNWl3R7Q6rsqZrrJEuF8uvj88wnMynLz5wWjpq-rYqc92hoR6bbbTNm86XC21L9HfVNN2GmtKhdki7XYuUTc_IUaErh-f7Oyav93er2UPw9Dx_nE2fgjxicRcoU2QSkiQ2SuYs4Qkao3KARIqMQSFBKR7qUGPGpMwFoMp0lhVCaxCRiA0fk6vB29rmvUfXpdvS5VhVusamd6nkMROSR_-Cnoq8MfTg9QDmtnHOYpG2ttxqu0sZpD_bp8P2_kN4-HJv7bMtml90GNv3N0PvfFOv0aZvTW9rv8hftm8aV48z</recordid><startdate>19920601</startdate><enddate>19920601</enddate><creator>Valentijn, L. J.</creator><creator>Bolhuis, P. A.</creator><creator>Zorn, I.</creator><creator>Hoogendijk, J. E.</creator><creator>van den Bosch, N.</creator><creator>Hensels, G. W.</creator><creator>Stanton, V. P.</creator><creator>Housman, D. E.</creator><creator>Fischbeck, K. H.</creator><creator>Ross, D. A.</creator><creator>Nicholson, G. A.</creator><creator>Meershoek, E. J.</creator><creator>Dauwerse, H. G.</creator><creator>van Ommen, G. -J. B.</creator><creator>Baas, F.</creator><general>Nature Publishing Group US</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19920601</creationdate><title>The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A</title><author>Valentijn, L. J. ; Bolhuis, P. A. ; Zorn, I. ; Hoogendijk, J. E. ; van den Bosch, N. ; Hensels, G. W. ; Stanton, V. P. ; Housman, D. E. ; Fischbeck, K. H. ; Ross, D. A. ; Nicholson, G. A. ; Meershoek, E. J. ; Dauwerse, H. G. ; van Ommen, G. -J. B. ; Baas, F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c415t-8dfb70995d87c1939edd8c00976b10f708832a2aeb177c60e8babbf6aa06465d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>Agriculture</topic><topic>Animal Genetics and Genomics</topic><topic>Base Sequence</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Charcot-Marie-Tooth Disease - classification</topic><topic>Charcot-Marie-Tooth Disease - genetics</topic><topic>DNA - genetics</topic><topic>Gene Expression</topic><topic>Gene Function</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Molecular Sequence Data</topic><topic>Multigene Family</topic><topic>Myelin Proteins - genetics</topic><topic>Polymerase Chain Reaction</topic><topic>Repetitive Sequences, Nucleic Acid</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Valentijn, L. J.</creatorcontrib><creatorcontrib>Bolhuis, P. A.</creatorcontrib><creatorcontrib>Zorn, I.</creatorcontrib><creatorcontrib>Hoogendijk, J. E.</creatorcontrib><creatorcontrib>van den Bosch, N.</creatorcontrib><creatorcontrib>Hensels, G. W.</creatorcontrib><creatorcontrib>Stanton, V. P.</creatorcontrib><creatorcontrib>Housman, D. E.</creatorcontrib><creatorcontrib>Fischbeck, K. H.</creatorcontrib><creatorcontrib>Ross, D. A.</creatorcontrib><creatorcontrib>Nicholson, G. A.</creatorcontrib><creatorcontrib>Meershoek, E. J.</creatorcontrib><creatorcontrib>Dauwerse, H. G.</creatorcontrib><creatorcontrib>van Ommen, G. -J. B.</creatorcontrib><creatorcontrib>Baas, F.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Nature genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Valentijn, L. J.</au><au>Bolhuis, P. A.</au><au>Zorn, I.</au><au>Hoogendijk, J. E.</au><au>van den Bosch, N.</au><au>Hensels, G. W.</au><au>Stanton, V. P.</au><au>Housman, D. E.</au><au>Fischbeck, K. H.</au><au>Ross, D. A.</au><au>Nicholson, G. A.</au><au>Meershoek, E. J.</au><au>Dauwerse, H. G.</au><au>van Ommen, G. -J. B.</au><au>Baas, F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A</atitle><jtitle>Nature genetics</jtitle><stitle>Nat Genet</stitle><addtitle>Nat Genet</addtitle><date>1992-06-01</date><risdate>1992</risdate><volume>1</volume><issue>3</issue><spage>166</spage><epage>170</epage><pages>166-170</pages><issn>1061-4036</issn><eissn>1546-1718</eissn><abstract>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.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>1303229</pmid><doi>10.1038/ng0692-166</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
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| ispartof | Nature genetics, 1992-06, Vol.1 (3), p.166-170 |
| issn | 1061-4036 1546-1718 |
| language | eng |
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| source | MEDLINE; Nature; SpringerLink Journals - AutoHoldings |
| subjects | Agriculture Animal Genetics and Genomics Base Sequence Biomedical and Life Sciences Biomedicine Cancer Research Charcot-Marie-Tooth Disease - classification Charcot-Marie-Tooth Disease - genetics DNA - genetics Gene Expression Gene Function Human Genetics Humans Molecular Sequence Data Multigene Family Myelin Proteins - genetics Polymerase Chain Reaction Repetitive Sequences, Nucleic Acid |
| title | The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A |
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