Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease
X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was mapped to chromosome Xq13.1. The gene for the gap junction protein connexin32 is located in the same chromosomal segment, which led to its consideration as a candidate gene...
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| Veröffentlicht in: | Science (American Association for the Advancement of Science) 1993-12, Vol.262 (5142), p.2039-2042 |
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| creator | Bergoffen, J. Scherer, S. S. Wang, S. Scott, M. Oronzi Bone, L. J. Paul, D. L. Chen, K. Lensch, M. W. Chance, P. F. Fischbeck, K. H. |
| description | X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was mapped to chromosome Xq13.1. The gene for the gap junction protein connexin32 is located in the same chromosomal segment, which led to its consideration as a candidate gene for CMTX. With the use of Northern (RNA) blot and immunohistochemistry technique, it was found that connexin32 is normally expressed in myelinated peripheral nerve. Direct sequencing of the connexin32 gene showed seven different mutations in affected persons from eight CMTX families. These findings, a demonstration of inherited defects in a gap junction protein, suggest that connexin32 plays an important role in peripheral nerve. |
| doi_str_mv | 10.1126/science.8266101 |
| format | Article |
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S. ; Wang, S. ; Scott, M. Oronzi ; Bone, L. J. ; Paul, D. L. ; Chen, K. ; Lensch, M. W. ; Chance, P. F. ; Fischbeck, K. H.</creator><creatorcontrib>Bergoffen, J. ; Scherer, S. S. ; Wang, S. ; Scott, M. Oronzi ; Bone, L. J. ; Paul, D. L. ; Chen, K. ; Lensch, M. W. ; Chance, P. F. ; Fischbeck, K. H.</creatorcontrib><description>X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was mapped to chromosome Xq13.1. The gene for the gap junction protein connexin32 is located in the same chromosomal segment, which led to its consideration as a candidate gene for CMTX. With the use of Northern (RNA) blot and immunohistochemistry technique, it was found that connexin32 is normally expressed in myelinated peripheral nerve. Direct sequencing of the connexin32 gene showed seven different mutations in affected persons from eight CMTX families. These findings, a demonstration of inherited defects in a gap junction protein, suggest that connexin32 plays an important role in peripheral nerve.</description><identifier>ISSN: 0036-8075</identifier><identifier>EISSN: 1095-9203</identifier><identifier>DOI: 10.1126/science.8266101</identifier><identifier>PMID: 8266101</identifier><identifier>CODEN: SCIEAS</identifier><language>eng</language><publisher>Washington, DC: American Society for the Advancement of Science</publisher><subject>550400 - Genetics ; Amino Acid Sequence ; Animals ; Base Sequence ; BASIC BIOLOGICAL SCIENCES ; Biological and medical sciences ; CELL CONSTITUENTS ; CELL MEMBRANES ; Cellular biology ; central nervous system diseases ; Charcot-Marie-Tooth disease ; Charcot-Marie-Tooth Disease - genetics ; Chromosome Mapping ; CHROMOSOMES ; connexin ; Connexins ; Connexins - analysis ; Connexins - genetics ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; demyelination ; Disease ; DISEASES ; Female ; Gap Junction beta-1 Protein ; Gap junctions ; Gels ; GENE MUTATIONS ; Genes ; Genetic aspects ; Genetic disorders ; Genetic Linkage ; GENETIC MAPPING ; Genetic mutation ; Genetics ; HETEROCHROMOSOMES ; HUMAN CHROMOSOMES ; HUMAN X CHROMOSOME ; Humans ; Male ; man ; MAPPING ; Medical genetics ; Medical research ; Medical sciences ; MEMBRANE PROTEINS ; MEMBRANES ; Molecular Sequence Data ; Mutation ; MUTATIONS ; MYELIN ; Nerve Fibers, Myelinated - chemistry ; Nerve Tissue Proteins - analysis ; Nervous system ; NERVOUS SYSTEM DISEASES ; Neurology ; Neurons ; ORGANIC COMPOUNDS ; Peripheral nerves ; Peripheral Nerves - chemistry ; PROTEINS ; Rats ; RNA ; X CHROMOSOME</subject><ispartof>Science (American Association for the Advancement of Science), 1993-12, Vol.262 (5142), p.2039-2042</ispartof><rights>Copyright 1993 American Association for the Advancement of Science</rights><rights>1994 INIST-CNRS</rights><rights>Copyright American Association for the Advancement of Science Dec 24, 1993</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c587t-39a663582524a0146acb678495caed148941903e7603cbf781a632ab79499dbb3</citedby><cites>FETCH-LOGICAL-c587t-39a663582524a0146acb678495caed148941903e7603cbf781a632ab79499dbb3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.jstor.org/stable/pdf/2882981$$EPDF$$P50$$Gjstor$$H</linktopdf><linktohtml>$$Uhttps://www.jstor.org/stable/2882981$$EHTML$$P50$$Gjstor$$H</linktohtml><link.rule.ids>230,314,780,784,803,885,2884,2885,27924,27925,58017,58250</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3876357$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8266101$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/5216044$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>Bergoffen, J.</creatorcontrib><creatorcontrib>Scherer, S. S.</creatorcontrib><creatorcontrib>Wang, S.</creatorcontrib><creatorcontrib>Scott, M. Oronzi</creatorcontrib><creatorcontrib>Bone, L. J.</creatorcontrib><creatorcontrib>Paul, D. L.</creatorcontrib><creatorcontrib>Chen, K.</creatorcontrib><creatorcontrib>Lensch, M. W.</creatorcontrib><creatorcontrib>Chance, P. F.</creatorcontrib><creatorcontrib>Fischbeck, K. H.</creatorcontrib><title>Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease</title><title>Science (American Association for the Advancement of Science)</title><addtitle>Science</addtitle><description>X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was mapped to chromosome Xq13.1. The gene for the gap junction protein connexin32 is located in the same chromosomal segment, which led to its consideration as a candidate gene for CMTX. With the use of Northern (RNA) blot and immunohistochemistry technique, it was found that connexin32 is normally expressed in myelinated peripheral nerve. Direct sequencing of the connexin32 gene showed seven different mutations in affected persons from eight CMTX families. These findings, a demonstration of inherited defects in a gap junction protein, suggest that connexin32 plays an important role in peripheral nerve.</description><subject>550400 - Genetics</subject><subject>Amino Acid Sequence</subject><subject>Animals</subject><subject>Base Sequence</subject><subject>BASIC BIOLOGICAL SCIENCES</subject><subject>Biological and medical sciences</subject><subject>CELL CONSTITUENTS</subject><subject>CELL MEMBRANES</subject><subject>Cellular biology</subject><subject>central nervous system diseases</subject><subject>Charcot-Marie-Tooth disease</subject><subject>Charcot-Marie-Tooth Disease - genetics</subject><subject>Chromosome Mapping</subject><subject>CHROMOSOMES</subject><subject>connexin</subject><subject>Connexins</subject><subject>Connexins - analysis</subject><subject>Connexins - genetics</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>demyelination</subject><subject>Disease</subject><subject>DISEASES</subject><subject>Female</subject><subject>Gap Junction beta-1 Protein</subject><subject>Gap junctions</subject><subject>Gels</subject><subject>GENE MUTATIONS</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic disorders</subject><subject>Genetic Linkage</subject><subject>GENETIC MAPPING</subject><subject>Genetic mutation</subject><subject>Genetics</subject><subject>HETEROCHROMOSOMES</subject><subject>HUMAN CHROMOSOMES</subject><subject>HUMAN X CHROMOSOME</subject><subject>Humans</subject><subject>Male</subject><subject>man</subject><subject>MAPPING</subject><subject>Medical genetics</subject><subject>Medical research</subject><subject>Medical sciences</subject><subject>MEMBRANE PROTEINS</subject><subject>MEMBRANES</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>MUTATIONS</subject><subject>MYELIN</subject><subject>Nerve Fibers, Myelinated - chemistry</subject><subject>Nerve Tissue Proteins - analysis</subject><subject>Nervous system</subject><subject>NERVOUS SYSTEM DISEASES</subject><subject>Neurology</subject><subject>Neurons</subject><subject>ORGANIC COMPOUNDS</subject><subject>Peripheral nerves</subject><subject>Peripheral Nerves - chemistry</subject><subject>PROTEINS</subject><subject>Rats</subject><subject>RNA</subject><subject>X CHROMOSOME</subject><issn>0036-8075</issn><issn>1095-9203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqFkUtvEzEUhS0EKqFlzQakCCFWTOvH-MWuGqBUStVNkdhZHuemcZjYxfZI5d_jaEbpsivLOp99zz0HoXcEnxNCxUV2HoKDc0WFIJi8QAuCNW80xewlWmDMRKOw5K_Rm5x3GFdNsxN0MuML9LWLIcCjD8ubsdjiY8jLevndrHz4A-tlt7XJxdLc2OShuYuxbJfffAab4Qy92tghw9v5PEW_fny_6342q9ur6-5y1TiuZGmYtkIwriinrcWkFdb1QqpWc2dhTVqlW6IxAykwc_1GKmIFo7aXutV63ffsFH2c_o25eFMXLuC27mDbFcMpEbhtK_R5gh5S_DtCLmbvs4NhsAHimI0UhGpe83gOJEJxxZh6GnsEd3FMoW5qKGGcc8pEhb5M0L0dwPhQbRV4LC4OA9yDqTl0t-aScMpbLmXFLybcpZhzgo15SH5v0z9DsDn0aeY-zVxQffFhdjH2e1gf-Sf906zb7OywSTY4n48YU7Jmfxj8fsJ2ucR0lKlSVCvC_gNbya35</recordid><startdate>19931224</startdate><enddate>19931224</enddate><creator>Bergoffen, J.</creator><creator>Scherer, S. 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Prion diseases</topic><topic>demyelination</topic><topic>Disease</topic><topic>DISEASES</topic><topic>Female</topic><topic>Gap Junction beta-1 Protein</topic><topic>Gap junctions</topic><topic>Gels</topic><topic>GENE MUTATIONS</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic disorders</topic><topic>Genetic Linkage</topic><topic>GENETIC MAPPING</topic><topic>Genetic mutation</topic><topic>Genetics</topic><topic>HETEROCHROMOSOMES</topic><topic>HUMAN CHROMOSOMES</topic><topic>HUMAN X CHROMOSOME</topic><topic>Humans</topic><topic>Male</topic><topic>man</topic><topic>MAPPING</topic><topic>Medical genetics</topic><topic>Medical research</topic><topic>Medical sciences</topic><topic>MEMBRANE PROTEINS</topic><topic>MEMBRANES</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>MUTATIONS</topic><topic>MYELIN</topic><topic>Nerve Fibers, Myelinated - chemistry</topic><topic>Nerve Tissue Proteins - analysis</topic><topic>Nervous system</topic><topic>NERVOUS SYSTEM DISEASES</topic><topic>Neurology</topic><topic>Neurons</topic><topic>ORGANIC COMPOUNDS</topic><topic>Peripheral nerves</topic><topic>Peripheral Nerves - chemistry</topic><topic>PROTEINS</topic><topic>Rats</topic><topic>RNA</topic><topic>X CHROMOSOME</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bergoffen, J.</creatorcontrib><creatorcontrib>Scherer, S. 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S.</au><au>Wang, S.</au><au>Scott, M. Oronzi</au><au>Bone, L. J.</au><au>Paul, D. L.</au><au>Chen, K.</au><au>Lensch, M. W.</au><au>Chance, P. F.</au><au>Fischbeck, K. H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease</atitle><jtitle>Science (American Association for the Advancement of Science)</jtitle><addtitle>Science</addtitle><date>1993-12-24</date><risdate>1993</risdate><volume>262</volume><issue>5142</issue><spage>2039</spage><epage>2042</epage><pages>2039-2042</pages><issn>0036-8075</issn><eissn>1095-9203</eissn><coden>SCIEAS</coden><abstract>X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was mapped to chromosome Xq13.1. The gene for the gap junction protein connexin32 is located in the same chromosomal segment, which led to its consideration as a candidate gene for CMTX. With the use of Northern (RNA) blot and immunohistochemistry technique, it was found that connexin32 is normally expressed in myelinated peripheral nerve. Direct sequencing of the connexin32 gene showed seven different mutations in affected persons from eight CMTX families. These findings, a demonstration of inherited defects in a gap junction protein, suggest that connexin32 plays an important role in peripheral nerve.</abstract><cop>Washington, DC</cop><pub>American Society for the Advancement of Science</pub><pmid>8266101</pmid><doi>10.1126/science.8266101</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0036-8075 |
| ispartof | Science (American Association for the Advancement of Science), 1993-12, Vol.262 (5142), p.2039-2042 |
| issn | 0036-8075 1095-9203 |
| language | eng |
| recordid | cdi_osti_scitechconnect_5216044 |
| source | American Association for the Advancement of Science; MEDLINE; JSTOR |
| subjects | 550400 - Genetics Amino Acid Sequence Animals Base Sequence BASIC BIOLOGICAL SCIENCES Biological and medical sciences CELL CONSTITUENTS CELL MEMBRANES Cellular biology central nervous system diseases Charcot-Marie-Tooth disease Charcot-Marie-Tooth Disease - genetics Chromosome Mapping CHROMOSOMES connexin Connexins Connexins - analysis Connexins - genetics Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases demyelination Disease DISEASES Female Gap Junction beta-1 Protein Gap junctions Gels GENE MUTATIONS Genes Genetic aspects Genetic disorders Genetic Linkage GENETIC MAPPING Genetic mutation Genetics HETEROCHROMOSOMES HUMAN CHROMOSOMES HUMAN X CHROMOSOME Humans Male man MAPPING Medical genetics Medical research Medical sciences MEMBRANE PROTEINS MEMBRANES Molecular Sequence Data Mutation MUTATIONS MYELIN Nerve Fibers, Myelinated - chemistry Nerve Tissue Proteins - analysis Nervous system NERVOUS SYSTEM DISEASES Neurology Neurons ORGANIC COMPOUNDS Peripheral nerves Peripheral Nerves - chemistry PROTEINS Rats RNA X CHROMOSOME |
| title | Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-20T23%3A44%3A38IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_osti_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Connexin%20Mutations%20in%20X-Linked%20Charcot-Marie-Tooth%20Disease&rft.jtitle=Science%20(American%20Association%20for%20the%20Advancement%20of%20Science)&rft.au=Bergoffen,%20J.&rft.date=1993-12-24&rft.volume=262&rft.issue=5142&rft.spage=2039&rft.epage=2042&rft.pages=2039-2042&rft.issn=0036-8075&rft.eissn=1095-9203&rft.coden=SCIEAS&rft_id=info:doi/10.1126/science.8266101&rft_dat=%3Cgale_osti_%3EA15254577%3C/gale_osti_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=213555236&rft_id=info:pmid/8266101&rft_galeid=A15254577&rft_jstor_id=2882981&rfr_iscdi=true |