Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation
Murine cells homozygous for the severe combined immune deficiency mutation ( scid) and V3 mutant hamster cells fall into the same complementation group and show similar defects in V(D)J recombination and DNA double-stranded break repair. Here we show that both cell types lack DNA-dependent protein k...
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| Veröffentlicht in: | Cell 1995-03, Vol.80 (5), p.813-823 |
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| container_title | Cell |
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| creator | Blunt, Tracy Finnie, Nicholas J Taccioli, Guillermo E Smith, Graeme C.M Demengeot, Jocelyne Gottlieb, Tanya M Mizuta, Ryushin Varghese, A.J Alt, Frederick W Jeggo, Penny A Jackson, Stephen P |
| description | Murine cells homozygous for the severe combined immune deficiency mutation (
scid) and V3 mutant hamster cells fall into the same complementation group and show similar defects in V(D)J recombination and DNA double-stranded break repair. Here we show that both cell types lack DNA-dependent protein kinase (DNA-PK) activity owing to defects in DNA-PK
cs, the catalytic subunit of this enzyme. Furthermore, we demonstrate that yeast artificial chromosomes containing the DNA-PK
cs, gene complement both the DNA repair and recombination deficiencies of V3 cells, and we conclude that DNA-PK
cs, is encoded by the
XRCC7 gene. As DNA-PK binds to DNA ends and is activated by these structures, our findings provide novel insights into V(D)J recombination and DNA repair processes. |
| doi_str_mv | 10.1016/0092-8674(95)90360-7 |
| format | Article |
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scid) and V3 mutant hamster cells fall into the same complementation group and show similar defects in V(D)J recombination and DNA double-stranded break repair. Here we show that both cell types lack DNA-dependent protein kinase (DNA-PK) activity owing to defects in DNA-PK
cs, the catalytic subunit of this enzyme. Furthermore, we demonstrate that yeast artificial chromosomes containing the DNA-PK
cs, gene complement both the DNA repair and recombination deficiencies of V3 cells, and we conclude that DNA-PK
cs, is encoded by the
XRCC7 gene. As DNA-PK binds to DNA ends and is activated by these structures, our findings provide novel insights into V(D)J recombination and DNA repair processes.</description><identifier>ISSN: 0092-8674</identifier><identifier>EISSN: 1097-4172</identifier><identifier>DOI: 10.1016/0092-8674(95)90360-7</identifier><identifier>PMID: 7889575</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Amino Acid Sequence ; Animals ; Base Sequence ; Cell Extracts - chemistry ; CHO Cells - radiation effects ; Chromosome Mapping ; Chromosomes, Artificial, Yeast - genetics ; Cricetinae ; DNA - metabolism ; DNA Repair - genetics ; DNA-Activated Protein Kinase ; DNA-Binding Proteins ; Gamma Rays ; Genetic Complementation Test ; Immunoglobulin Variable Region - genetics ; Mice ; Mice, SCID ; Molecular Sequence Data ; Protein-Serine-Threonine Kinases - genetics ; Protein-Serine-Threonine Kinases - metabolism ; Radiation Tolerance - genetics ; Recombination, Genetic - genetics ; Severe Combined Immunodeficiency - genetics</subject><ispartof>Cell, 1995-03, Vol.80 (5), p.813-823</ispartof><rights>1995</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c434t-ed596ccdd5a581c21320b83796ec3e94b5ad380d03c1dcb429f63c35b2faa1d93</citedby><cites>FETCH-LOGICAL-c434t-ed596ccdd5a581c21320b83796ec3e94b5ad380d03c1dcb429f63c35b2faa1d93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/0092867495903607$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7889575$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Blunt, Tracy</creatorcontrib><creatorcontrib>Finnie, Nicholas J</creatorcontrib><creatorcontrib>Taccioli, Guillermo E</creatorcontrib><creatorcontrib>Smith, Graeme C.M</creatorcontrib><creatorcontrib>Demengeot, Jocelyne</creatorcontrib><creatorcontrib>Gottlieb, Tanya M</creatorcontrib><creatorcontrib>Mizuta, Ryushin</creatorcontrib><creatorcontrib>Varghese, A.J</creatorcontrib><creatorcontrib>Alt, Frederick W</creatorcontrib><creatorcontrib>Jeggo, Penny A</creatorcontrib><creatorcontrib>Jackson, Stephen P</creatorcontrib><title>Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation</title><title>Cell</title><addtitle>Cell</addtitle><description>Murine cells homozygous for the severe combined immune deficiency mutation (
scid) and V3 mutant hamster cells fall into the same complementation group and show similar defects in V(D)J recombination and DNA double-stranded break repair. Here we show that both cell types lack DNA-dependent protein kinase (DNA-PK) activity owing to defects in DNA-PK
cs, the catalytic subunit of this enzyme. Furthermore, we demonstrate that yeast artificial chromosomes containing the DNA-PK
cs, gene complement both the DNA repair and recombination deficiencies of V3 cells, and we conclude that DNA-PK
cs, is encoded by the
XRCC7 gene. As DNA-PK binds to DNA ends and is activated by these structures, our findings provide novel insights into V(D)J recombination and DNA repair processes.</description><subject>Amino Acid Sequence</subject><subject>Animals</subject><subject>Base Sequence</subject><subject>Cell Extracts - chemistry</subject><subject>CHO Cells - radiation effects</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Artificial, Yeast - genetics</subject><subject>Cricetinae</subject><subject>DNA - metabolism</subject><subject>DNA Repair - genetics</subject><subject>DNA-Activated Protein Kinase</subject><subject>DNA-Binding Proteins</subject><subject>Gamma Rays</subject><subject>Genetic Complementation Test</subject><subject>Immunoglobulin Variable Region - genetics</subject><subject>Mice</subject><subject>Mice, SCID</subject><subject>Molecular Sequence Data</subject><subject>Protein-Serine-Threonine Kinases - genetics</subject><subject>Protein-Serine-Threonine Kinases - metabolism</subject><subject>Radiation Tolerance - genetics</subject><subject>Recombination, Genetic - genetics</subject><subject>Severe Combined Immunodeficiency - genetics</subject><issn>0092-8674</issn><issn>1097-4172</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkc1u3CAUhVHVKJ2mfYNWYlUlCydgjDGbSlGmf1GUbtpuEYZr5SZjPAEmUd6ijxw8M8qyXYG43zlXnEPIB85OOePtGWO6rrpWNcdanmgmWlapV2TBmVZVw1X9mixekDfkbUq3jLFOSnlIDlXXaankgvxdwgAu4wPQ5fV55WENwUPIdB2nDBjoHQabgNqZwfxEMdEVhjvwNE_0z_Hy5JJGcNPYFy7jFKgNfrYqr2uLkfqtf6I2pcmhzUX4iPmG5hug4yZiAJoc-nLPW_07cjDYVYL3-_OI_P765dfF9-rq57cfF-dXlWtEkyvwUrfOeS-t7LiruahZ3wmlW3ACdNNL60XHPBOOe9c3tR5a4YTs68Fa7rU4Ip92vuWj9xtI2YyYHKxWNsC0SUYproRo2H9B3iqmZdsVsNmBLk4pRRjMOuJo45PhzMyNmbkOM9dhtDTbxowqso97_00_gn8R7Ssq88-7OZQ0HhCiKXlBcOCxBJ-Nn_DfC54BXBCnBw</recordid><startdate>19950310</startdate><enddate>19950310</enddate><creator>Blunt, Tracy</creator><creator>Finnie, Nicholas J</creator><creator>Taccioli, Guillermo E</creator><creator>Smith, Graeme C.M</creator><creator>Demengeot, Jocelyne</creator><creator>Gottlieb, Tanya M</creator><creator>Mizuta, Ryushin</creator><creator>Varghese, A.J</creator><creator>Alt, Frederick W</creator><creator>Jeggo, Penny A</creator><creator>Jackson, Stephen P</creator><general>Elsevier Inc</general><scope>6I.</scope><scope>AAFTH</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>7T5</scope><scope>7TM</scope><scope>H94</scope><scope>7X8</scope></search><sort><creationdate>19950310</creationdate><title>Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation</title><author>Blunt, Tracy ; Finnie, Nicholas J ; Taccioli, Guillermo E ; Smith, Graeme C.M ; Demengeot, Jocelyne ; Gottlieb, Tanya M ; Mizuta, Ryushin ; Varghese, A.J ; Alt, Frederick W ; Jeggo, Penny A ; Jackson, Stephen P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c434t-ed596ccdd5a581c21320b83796ec3e94b5ad380d03c1dcb429f63c35b2faa1d93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Amino Acid Sequence</topic><topic>Animals</topic><topic>Base Sequence</topic><topic>Cell Extracts - chemistry</topic><topic>CHO Cells - radiation effects</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Artificial, Yeast - genetics</topic><topic>Cricetinae</topic><topic>DNA - metabolism</topic><topic>DNA Repair - genetics</topic><topic>DNA-Activated Protein Kinase</topic><topic>DNA-Binding Proteins</topic><topic>Gamma Rays</topic><topic>Genetic Complementation Test</topic><topic>Immunoglobulin Variable Region - genetics</topic><topic>Mice</topic><topic>Mice, SCID</topic><topic>Molecular Sequence Data</topic><topic>Protein-Serine-Threonine Kinases - genetics</topic><topic>Protein-Serine-Threonine Kinases - metabolism</topic><topic>Radiation Tolerance - genetics</topic><topic>Recombination, Genetic - genetics</topic><topic>Severe Combined Immunodeficiency - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Blunt, Tracy</creatorcontrib><creatorcontrib>Finnie, Nicholas J</creatorcontrib><creatorcontrib>Taccioli, Guillermo E</creatorcontrib><creatorcontrib>Smith, Graeme C.M</creatorcontrib><creatorcontrib>Demengeot, Jocelyne</creatorcontrib><creatorcontrib>Gottlieb, Tanya M</creatorcontrib><creatorcontrib>Mizuta, Ryushin</creatorcontrib><creatorcontrib>Varghese, A.J</creatorcontrib><creatorcontrib>Alt, Frederick W</creatorcontrib><creatorcontrib>Jeggo, Penny A</creatorcontrib><creatorcontrib>Jackson, Stephen P</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Cell</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Blunt, Tracy</au><au>Finnie, Nicholas J</au><au>Taccioli, Guillermo E</au><au>Smith, Graeme C.M</au><au>Demengeot, Jocelyne</au><au>Gottlieb, Tanya M</au><au>Mizuta, Ryushin</au><au>Varghese, A.J</au><au>Alt, Frederick W</au><au>Jeggo, Penny A</au><au>Jackson, Stephen P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation</atitle><jtitle>Cell</jtitle><addtitle>Cell</addtitle><date>1995-03-10</date><risdate>1995</risdate><volume>80</volume><issue>5</issue><spage>813</spage><epage>823</epage><pages>813-823</pages><issn>0092-8674</issn><eissn>1097-4172</eissn><abstract>Murine cells homozygous for the severe combined immune deficiency mutation (
scid) and V3 mutant hamster cells fall into the same complementation group and show similar defects in V(D)J recombination and DNA double-stranded break repair. Here we show that both cell types lack DNA-dependent protein kinase (DNA-PK) activity owing to defects in DNA-PK
cs, the catalytic subunit of this enzyme. Furthermore, we demonstrate that yeast artificial chromosomes containing the DNA-PK
cs, gene complement both the DNA repair and recombination deficiencies of V3 cells, and we conclude that DNA-PK
cs, is encoded by the
XRCC7 gene. As DNA-PK binds to DNA ends and is activated by these structures, our findings provide novel insights into V(D)J recombination and DNA repair processes.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>7889575</pmid><doi>10.1016/0092-8674(95)90360-7</doi><tpages>11</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Cell, 1995-03, Vol.80 (5), p.813-823 |
| issn | 0092-8674 1097-4172 |
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| source | MEDLINE; Cell Press Free Archives; Elsevier ScienceDirect Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Amino Acid Sequence Animals Base Sequence Cell Extracts - chemistry CHO Cells - radiation effects Chromosome Mapping Chromosomes, Artificial, Yeast - genetics Cricetinae DNA - metabolism DNA Repair - genetics DNA-Activated Protein Kinase DNA-Binding Proteins Gamma Rays Genetic Complementation Test Immunoglobulin Variable Region - genetics Mice Mice, SCID Molecular Sequence Data Protein-Serine-Threonine Kinases - genetics Protein-Serine-Threonine Kinases - metabolism Radiation Tolerance - genetics Recombination, Genetic - genetics Severe Combined Immunodeficiency - genetics |
| title | Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation |
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