Purkinje Cell Degeneration (pcd) Phenotypes Caused by Mutations in the Axotomy-Induced Gene, Nna1
The classical recessive mouse mutant, Purkinje cell degeneration (pcd), exhibits adult-onset degeneration of cerebellar Purkinje neurons, retinal photoreceptors, olfactory bulb mitral neurons, and selected thalamic neurons, and has defective spermatogenesis. Here we identify Nna1 as the gene mutated...
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| Veröffentlicht in: | Science (American Association for the Advancement of Science) 2002-03, Vol.295 (5561), p.1904-1906 |
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| container_title | Science (American Association for the Advancement of Science) |
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| creator | Fernandez-Gonzalez, Angeles La Spada, Albert R. Treadaway, Jason Higdon, Jason C. Harris, Belinda S. Sidman, Richard L. Morgan, James I. Zuo, Jian |
| description | The classical recessive mouse mutant, Purkinje cell degeneration (pcd), exhibits adult-onset degeneration of cerebellar Purkinje neurons, retinal photoreceptors, olfactory bulb mitral neurons, and selected thalamic neurons, and has defective spermatogenesis. Here we identify Nna1 as the gene mutated in the original pcd and two additional pcd alleles (pcd2Jand pcd3J). Nna1 encodes a putative nuclear protein containing a zinc carboxypeptidase domain initially identified by its induction in spinal motor neurons during axonal regeneration. The present study suggests an unexpected molecular link between neuronal degeneration and regeneration, and its results have potential implications for neurodegenerative diseases and male infertility. |
| doi_str_mv | 10.1126/science.1068912 |
| format | Article |
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Here we identify Nna1 as the gene mutated in the original pcd and two additional pcd alleles (pcd2Jand pcd3J). Nna1 encodes a putative nuclear protein containing a zinc carboxypeptidase domain initially identified by its induction in spinal motor neurons during axonal regeneration. The present study suggests an unexpected molecular link between neuronal degeneration and regeneration, and its results have potential implications for neurodegenerative diseases and male infertility.</description><identifier>ISSN: 0036-8075</identifier><identifier>EISSN: 1095-9203</identifier><identifier>DOI: 10.1126/science.1068912</identifier><identifier>PMID: 11884758</identifier><identifier>CODEN: SCIEAS</identifier><language>eng</language><publisher>Washington, DC: American Society for the Advancement of Science</publisher><subject>Adults ; Alleles ; Anatomy ; Animals ; Axotomy ; Biological and medical sciences ; Blotting, Northern ; Brain ; Brain - metabolism ; carboxypeptidase ; Carboxypeptidases ; Cell death ; Chromosome Mapping ; Crosses, Genetic ; Development. Senescence. Regeneration. Transplantation ; Exons ; Female ; Fundamental and applied biological sciences. Psychology ; Gene Expression ; Gene mutation ; Gene mutations ; Genes ; Genetic aspects ; Genetic mutation ; Genomics ; GTP-Binding Proteins - chemistry ; GTP-Binding Proteins - genetics ; GTP-Binding Proteins - physiology ; House mouse ; In Situ Hybridization ; Introns ; Male ; Messenger RNA ; Mice ; Mice, Neurologic Mutants ; Molecular Sequence Data ; Mutation ; Nerve Degeneration - genetics ; Nerve Regeneration ; Nervous system ; Neurology ; Neurons ; Neurons - metabolism ; Nna1 gene ; Nucleotides ; Phenotype ; Photoreceptors ; Purkinje cells ; Purkinje Cells - cytology ; Purkinje Cells - physiology ; Retina - metabolism ; RNA, Messenger - genetics ; RNA, Messenger - metabolism ; Rodents ; Serine-Type D-Ala-D-Ala Carboxypeptidase ; Spermatogenesis ; Testes ; Testis - metabolism ; Vertebrates: nervous system and sense organs</subject><ispartof>Science (American Association for the Advancement of Science), 2002-03, Vol.295 (5561), p.1904-1906</ispartof><rights>Copyright 2002 American Association for the Advancement of Science</rights><rights>2002 INIST-CNRS</rights><rights>COPYRIGHT 2002 American Association for the Advancement of Science</rights><rights>Copyright American Association for the Advancement of Science Mar 8, 2002</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c598t-94fead0deab978b13ad6ea588694172eb054448679af832098fbd789c2b8d2ec3</citedby><cites>FETCH-LOGICAL-c598t-94fead0deab978b13ad6ea588694172eb054448679af832098fbd789c2b8d2ec3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.jstor.org/stable/pdf/3076228$$EPDF$$P50$$Gjstor$$H</linktopdf><linktohtml>$$Uhttps://www.jstor.org/stable/3076228$$EHTML$$P50$$Gjstor$$H</linktohtml><link.rule.ids>314,776,780,799,2871,2872,27901,27902,57992,58225</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13570030$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11884758$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Fernandez-Gonzalez, Angeles</creatorcontrib><creatorcontrib>La Spada, Albert R.</creatorcontrib><creatorcontrib>Treadaway, Jason</creatorcontrib><creatorcontrib>Higdon, Jason C.</creatorcontrib><creatorcontrib>Harris, Belinda S.</creatorcontrib><creatorcontrib>Sidman, Richard L.</creatorcontrib><creatorcontrib>Morgan, James I.</creatorcontrib><creatorcontrib>Zuo, Jian</creatorcontrib><title>Purkinje Cell Degeneration (pcd) Phenotypes Caused by Mutations in the Axotomy-Induced Gene, Nna1</title><title>Science (American Association for the Advancement of Science)</title><addtitle>Science</addtitle><description>The classical recessive mouse mutant, Purkinje cell degeneration (pcd), exhibits adult-onset degeneration of cerebellar Purkinje neurons, retinal photoreceptors, olfactory bulb mitral neurons, and selected thalamic neurons, and has defective spermatogenesis. Here we identify Nna1 as the gene mutated in the original pcd and two additional pcd alleles (pcd2Jand pcd3J). Nna1 encodes a putative nuclear protein containing a zinc carboxypeptidase domain initially identified by its induction in spinal motor neurons during axonal regeneration. The present study suggests an unexpected molecular link between neuronal degeneration and regeneration, and its results have potential implications for neurodegenerative diseases and male infertility.</description><subject>Adults</subject><subject>Alleles</subject><subject>Anatomy</subject><subject>Animals</subject><subject>Axotomy</subject><subject>Biological and medical sciences</subject><subject>Blotting, Northern</subject><subject>Brain</subject><subject>Brain - metabolism</subject><subject>carboxypeptidase</subject><subject>Carboxypeptidases</subject><subject>Cell death</subject><subject>Chromosome Mapping</subject><subject>Crosses, Genetic</subject><subject>Development. Senescence. Regeneration. 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cytology</subject><subject>Purkinje Cells - physiology</subject><subject>Retina - metabolism</subject><subject>RNA, Messenger - genetics</subject><subject>RNA, Messenger - metabolism</subject><subject>Rodents</subject><subject>Serine-Type D-Ala-D-Ala Carboxypeptidase</subject><subject>Spermatogenesis</subject><subject>Testes</subject><subject>Testis - metabolism</subject><subject>Vertebrates: nervous system and sense organs</subject><issn>0036-8075</issn><issn>1095-9203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqF0s9v0zAUB3ALgVgpnLkgZCGBQFo2_4hj-1hlMCYNtgOcI8d52VJSu9iOtP7389aISVyqyMrBHz_bz1-E3lJyQimrTqMdwFk4oaRSmrJnaEGJFoVmhD9HC0J4VSgixRF6FeOakDyn-Ut0RKlSpRRqgcz1FP4Mbg24hnHEZ3ADDoJJg3f489Z2X_D1LTifdluIuDZThA63O_xjSo8m4sHhdAt4deeT3-yKC9dNNpvzXOYY_3SGvkYvejNGeDP_l-j3t6-_6u_F5dX5Rb26LKzQKhW67MF0pAPTaqlayk1XgRFKVbqkkkFLRFmWqpLa9IozolXfdlJpy1rVMbB8iT7t626D_ztBTM1miDZfyjjwU2wkFZSVWh-EvKKVEJIehCy3MX_sIKSKSSYet_7wH1z7KbjcllyMC5XNQ7XjPboxIzSDs94luEvWj2N-nSY3rb5qVqqkgvM8luh0z23wMQbom20YNibsGkqah5A0c0iaOSR5xfv5FFO7ge7Jz6nI4OMMTLRm7INxdohPjguZo0Wye7d365h8-DfPiawYU_weRX_Mew</recordid><startdate>20020308</startdate><enddate>20020308</enddate><creator>Fernandez-Gonzalez, Angeles</creator><creator>La Spada, Albert R.</creator><creator>Treadaway, Jason</creator><creator>Higdon, Jason C.</creator><creator>Harris, Belinda S.</creator><creator>Sidman, Richard L.</creator><creator>Morgan, James I.</creator><creator>Zuo, Jian</creator><general>American Society for the Advancement of Science</general><general>American Association for the Advancement of Science</general><general>The American Association for the Advancement of Science</general><scope>IQODW</scope><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>0-V</scope><scope>3V.</scope><scope>7QF</scope><scope>7QG</scope><scope>7QL</scope><scope>7QP</scope><scope>7QQ</scope><scope>7QR</scope><scope>7SC</scope><scope>7SE</scope><scope>7SN</scope><scope>7SP</scope><scope>7SR</scope><scope>7SS</scope><scope>7T7</scope><scope>7TA</scope><scope>7TB</scope><scope>7TK</scope><scope>7TM</scope><scope>7U5</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88B</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8BQ</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ALSLI</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BEC</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>BKSAR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>CJNVE</scope><scope>D1I</scope><scope>DWQXO</scope><scope>F28</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H8D</scope><scope>H8G</scope><scope>H94</scope><scope>HCIFZ</scope><scope>JG9</scope><scope>JQ2</scope><scope>K9-</scope><scope>K9.</scope><scope>KB.</scope><scope>KR7</scope><scope>L6V</scope><scope>L7M</scope><scope>LK8</scope><scope>L~C</scope><scope>L~D</scope><scope>M0K</scope><scope>M0P</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>M2P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>MBDVC</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PCBAR</scope><scope>PDBOC</scope><scope>PQEDU</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>Q9U</scope><scope>R05</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20020308</creationdate><title>Purkinje Cell Degeneration (pcd) Phenotypes Caused by Mutations in the Axotomy-Induced Gene, Nna1</title><author>Fernandez-Gonzalez, Angeles ; La Spada, Albert R. ; Treadaway, Jason ; Higdon, Jason C. ; Harris, Belinda S. ; Sidman, Richard L. ; Morgan, James I. ; Zuo, Jian</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c598t-94fead0deab978b13ad6ea588694172eb054448679af832098fbd789c2b8d2ec3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Adults</topic><topic>Alleles</topic><topic>Anatomy</topic><topic>Animals</topic><topic>Axotomy</topic><topic>Biological and medical sciences</topic><topic>Blotting, Northern</topic><topic>Brain</topic><topic>Brain - metabolism</topic><topic>carboxypeptidase</topic><topic>Carboxypeptidases</topic><topic>Cell death</topic><topic>Chromosome Mapping</topic><topic>Crosses, Genetic</topic><topic>Development. 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Psychology</topic><topic>Gene Expression</topic><topic>Gene mutation</topic><topic>Gene mutations</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic mutation</topic><topic>Genomics</topic><topic>GTP-Binding Proteins - chemistry</topic><topic>GTP-Binding Proteins - genetics</topic><topic>GTP-Binding Proteins - physiology</topic><topic>House mouse</topic><topic>In Situ Hybridization</topic><topic>Introns</topic><topic>Male</topic><topic>Messenger RNA</topic><topic>Mice</topic><topic>Mice, Neurologic Mutants</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Nerve Degeneration - genetics</topic><topic>Nerve Regeneration</topic><topic>Nervous system</topic><topic>Neurology</topic><topic>Neurons</topic><topic>Neurons - metabolism</topic><topic>Nna1 gene</topic><topic>Nucleotides</topic><topic>Phenotype</topic><topic>Photoreceptors</topic><topic>Purkinje cells</topic><topic>Purkinje Cells - cytology</topic><topic>Purkinje Cells - physiology</topic><topic>Retina - metabolism</topic><topic>RNA, Messenger - genetics</topic><topic>RNA, Messenger - metabolism</topic><topic>Rodents</topic><topic>Serine-Type D-Ala-D-Ala Carboxypeptidase</topic><topic>Spermatogenesis</topic><topic>Testes</topic><topic>Testis - metabolism</topic><topic>Vertebrates: nervous system and sense organs</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Fernandez-Gonzalez, Angeles</creatorcontrib><creatorcontrib>La Spada, Albert R.</creatorcontrib><creatorcontrib>Treadaway, Jason</creatorcontrib><creatorcontrib>Higdon, Jason C.</creatorcontrib><creatorcontrib>Harris, Belinda S.</creatorcontrib><creatorcontrib>Sidman, Richard L.</creatorcontrib><creatorcontrib>Morgan, James I.</creatorcontrib><creatorcontrib>Zuo, Jian</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE 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Science)</jtitle><addtitle>Science</addtitle><date>2002-03-08</date><risdate>2002</risdate><volume>295</volume><issue>5561</issue><spage>1904</spage><epage>1906</epage><pages>1904-1906</pages><issn>0036-8075</issn><eissn>1095-9203</eissn><coden>SCIEAS</coden><abstract>The classical recessive mouse mutant, Purkinje cell degeneration (pcd), exhibits adult-onset degeneration of cerebellar Purkinje neurons, retinal photoreceptors, olfactory bulb mitral neurons, and selected thalamic neurons, and has defective spermatogenesis. Here we identify Nna1 as the gene mutated in the original pcd and two additional pcd alleles (pcd2Jand pcd3J). Nna1 encodes a putative nuclear protein containing a zinc carboxypeptidase domain initially identified by its induction in spinal motor neurons during axonal regeneration. The present study suggests an unexpected molecular link between neuronal degeneration and regeneration, and its results have potential implications for neurodegenerative diseases and male infertility.</abstract><cop>Washington, DC</cop><pub>American Society for the Advancement of Science</pub><pmid>11884758</pmid><doi>10.1126/science.1068912</doi><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0036-8075 |
| ispartof | Science (American Association for the Advancement of Science), 2002-03, Vol.295 (5561), p.1904-1906 |
| issn | 0036-8075 1095-9203 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_71512499 |
| source | American Association for the Advancement of Science; Jstor Complete Legacy; MEDLINE |
| subjects | Adults Alleles Anatomy Animals Axotomy Biological and medical sciences Blotting, Northern Brain Brain - metabolism carboxypeptidase Carboxypeptidases Cell death Chromosome Mapping Crosses, Genetic Development. Senescence. Regeneration. Transplantation Exons Female Fundamental and applied biological sciences. Psychology Gene Expression Gene mutation Gene mutations Genes Genetic aspects Genetic mutation Genomics GTP-Binding Proteins - chemistry GTP-Binding Proteins - genetics GTP-Binding Proteins - physiology House mouse In Situ Hybridization Introns Male Messenger RNA Mice Mice, Neurologic Mutants Molecular Sequence Data Mutation Nerve Degeneration - genetics Nerve Regeneration Nervous system Neurology Neurons Neurons - metabolism Nna1 gene Nucleotides Phenotype Photoreceptors Purkinje cells Purkinje Cells - cytology Purkinje Cells - physiology Retina - metabolism RNA, Messenger - genetics RNA, Messenger - metabolism Rodents Serine-Type D-Ala-D-Ala Carboxypeptidase Spermatogenesis Testes Testis - metabolism Vertebrates: nervous system and sense organs |
| title | Purkinje Cell Degeneration (pcd) Phenotypes Caused by Mutations in the Axotomy-Induced Gene, Nna1 |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-05T06%3A53%3A54IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_proqu&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Purkinje%20Cell%20Degeneration%20(pcd)%20Phenotypes%20Caused%20by%20Mutations%20in%20the%20Axotomy-Induced%20Gene,%20Nna1&rft.jtitle=Science%20(American%20Association%20for%20the%20Advancement%20of%20Science)&rft.au=Fernandez-Gonzalez,%20Angeles&rft.date=2002-03-08&rft.volume=295&rft.issue=5561&rft.spage=1904&rft.epage=1906&rft.pages=1904-1906&rft.issn=0036-8075&rft.eissn=1095-9203&rft.coden=SCIEAS&rft_id=info:doi/10.1126/science.1068912&rft_dat=%3Cgale_proqu%3EA84153315%3C/gale_proqu%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=213585992&rft_id=info:pmid/11884758&rft_galeid=A84153315&rft_jstor_id=3076228&rfr_iscdi=true |