The hMre11/hRad50 Protein Complex and Nijmegen Breakage Syndrome: Linkage of Double-Strand Break Repair to the Cellular DNA Damage Response
Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by increased cancer incidence, cell cycle checkpoint defects, and ionizing radiation sensitivity. We have isolated the gene encoding p95, a member of the hMre11/hRad50 double-strand break repair complex. The p95 gene m...
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| Veröffentlicht in: | Cell 1998-05, Vol.93 (3), p.477-486 |
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| creator | Carney, James P Maser, Richard S Olivares, Heidi Davis, Elizabeth M Le Beau, Michelle Yates, John R Hays, Lara Morgan, William F Petrini, John H.J |
| description | Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by increased cancer incidence, cell cycle checkpoint defects, and ionizing radiation sensitivity. We have isolated the gene encoding p95, a member of the hMre11/hRad50 double-strand break repair complex. The
p95 gene mapped to 8q21.3, the region that contains the
NBS locus, and p95 was absent from NBS cells established from NBS patients. p95 deficiency in these cells completely abrogates the formation of hMre11/hRad50 ionizing radiation-induced foci. Comparison of the
p95 cDNA to the
NBS1 cDNA indicated that the
p95 gene and
NBS1 are identical. The implication of hMre11/hRad50/p95 protein complex in NBS reveals a direct molecular link between DSB repair and cell cycle checkpoint functions. |
| doi_str_mv | 10.1016/S0092-8674(00)81175-7 |
| format | Article |
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p95 gene mapped to 8q21.3, the region that contains the
NBS locus, and p95 was absent from NBS cells established from NBS patients. p95 deficiency in these cells completely abrogates the formation of hMre11/hRad50 ionizing radiation-induced foci. Comparison of the
p95 cDNA to the
NBS1 cDNA indicated that the
p95 gene and
NBS1 are identical. The implication of hMre11/hRad50/p95 protein complex in NBS reveals a direct molecular link between DSB repair and cell cycle checkpoint functions.</description><identifier>ISSN: 0092-8674</identifier><identifier>EISSN: 1097-4172</identifier><identifier>DOI: 10.1016/S0092-8674(00)81175-7</identifier><identifier>PMID: 9590181</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Acid Anhydride Hydrolases ; Cell Cycle Proteins - analysis ; Cell Cycle Proteins - chemistry ; Cell Cycle Proteins - genetics ; Cell Cycle Proteins - isolation & purification ; Cell Cycle Proteins - physiology ; Cell Line ; Chromosome Mapping ; Chromosomes, Human, Pair 8 - genetics ; Cloning, Molecular ; DNA Damage - genetics ; DNA Repair - genetics ; DNA Repair Enzymes ; DNA, Complementary - genetics ; DNA-Binding Proteins - analysis ; DNA-Binding Proteins - genetics ; DNA-Binding Proteins - metabolism ; Fibroblasts - radiation effects ; Genes, Recessive - genetics ; HeLa Cells ; Humans ; Microcephaly - genetics ; Molecular Sequence Data ; Molecular Weight ; MRE11 Homologue Protein ; Nuclear Proteins ; Proteins - analysis ; Proteins - genetics ; Proteins - metabolism ; Radiation Tolerance ; Radiation, Ionizing ; RNA, Messenger - analysis ; Sequence Homology, Amino Acid ; Species Specificity ; Syndrome</subject><ispartof>Cell, 1998-05, Vol.93 (3), p.477-486</ispartof><rights>1998 Cell Press</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c490t-8c0a8821fe3f0896c83331a671ff4184eef3a6d3de07adfd28bfbab254eaa6fc3</citedby><cites>FETCH-LOGICAL-c490t-8c0a8821fe3f0896c83331a671ff4184eef3a6d3de07adfd28bfbab254eaa6fc3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0092867400811757$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9590181$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Carney, James P</creatorcontrib><creatorcontrib>Maser, Richard S</creatorcontrib><creatorcontrib>Olivares, Heidi</creatorcontrib><creatorcontrib>Davis, Elizabeth M</creatorcontrib><creatorcontrib>Le Beau, Michelle</creatorcontrib><creatorcontrib>Yates, John R</creatorcontrib><creatorcontrib>Hays, Lara</creatorcontrib><creatorcontrib>Morgan, William F</creatorcontrib><creatorcontrib>Petrini, John H.J</creatorcontrib><title>The hMre11/hRad50 Protein Complex and Nijmegen Breakage Syndrome: Linkage of Double-Strand Break Repair to the Cellular DNA Damage Response</title><title>Cell</title><addtitle>Cell</addtitle><description>Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by increased cancer incidence, cell cycle checkpoint defects, and ionizing radiation sensitivity. We have isolated the gene encoding p95, a member of the hMre11/hRad50 double-strand break repair complex. The
p95 gene mapped to 8q21.3, the region that contains the
NBS locus, and p95 was absent from NBS cells established from NBS patients. p95 deficiency in these cells completely abrogates the formation of hMre11/hRad50 ionizing radiation-induced foci. Comparison of the
p95 cDNA to the
NBS1 cDNA indicated that the
p95 gene and
NBS1 are identical. The implication of hMre11/hRad50/p95 protein complex in NBS reveals a direct molecular link between DSB repair and cell cycle checkpoint functions.</description><subject>Acid Anhydride Hydrolases</subject><subject>Cell Cycle Proteins - analysis</subject><subject>Cell Cycle Proteins - chemistry</subject><subject>Cell Cycle Proteins - genetics</subject><subject>Cell Cycle Proteins - isolation & purification</subject><subject>Cell Cycle Proteins - physiology</subject><subject>Cell Line</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 8 - genetics</subject><subject>Cloning, Molecular</subject><subject>DNA Damage - genetics</subject><subject>DNA Repair - genetics</subject><subject>DNA Repair Enzymes</subject><subject>DNA, Complementary - genetics</subject><subject>DNA-Binding Proteins - analysis</subject><subject>DNA-Binding Proteins - genetics</subject><subject>DNA-Binding Proteins - metabolism</subject><subject>Fibroblasts - radiation effects</subject><subject>Genes, Recessive - genetics</subject><subject>HeLa Cells</subject><subject>Humans</subject><subject>Microcephaly - genetics</subject><subject>Molecular Sequence Data</subject><subject>Molecular Weight</subject><subject>MRE11 Homologue Protein</subject><subject>Nuclear Proteins</subject><subject>Proteins - analysis</subject><subject>Proteins - genetics</subject><subject>Proteins - metabolism</subject><subject>Radiation Tolerance</subject><subject>Radiation, Ionizing</subject><subject>RNA, Messenger - analysis</subject><subject>Sequence Homology, Amino Acid</subject><subject>Species Specificity</subject><subject>Syndrome</subject><issn>0092-8674</issn><issn>1097-4172</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkctu1DAUhi0EKkPhESp5hWARek5udtigMlMu0lDQTFlbnvi445LEqZ2g9hl4aTIXdduVJZ_v93_kj7EzhA8IWJ6vAao0kaXI3wG8l4iiSMQzNkOoRJKjSJ-z2SPykr2K8RYAZFEUJ-ykKipAiTP273pLfPsjEOL5dqVNAfxX8AO5js992zd0z3Vn-JW7bemGOv45kP6jb4ivHzoTfEsf-dJ1-xtv-cKPm4aS9RB2oT3LV9RrF_jg-TBVzalpxkYHvri64Avd7oIrir3vIr1mL6xuIr05nqfs95fL6_m3ZPnz6_f5xTKp8wqGRNagpUzRUmZBVmUtsyxDXQq0NkeZE9lMlyYzBEIba1K5sRu9SYuctC5tnZ2yt4d3--DvRoqDal2sp8V0R36MSlRSZljKJ0Es81xUmE9gcQDr4GMMZFUfXKvDg0JQO1tqb0vtVCgAtbelxJQ7OxaMm5bMY-qoZ5p_Osxp-o6_joKKtaOuJuMC1YMy3j3R8B-ZE6R6</recordid><startdate>19980501</startdate><enddate>19980501</enddate><creator>Carney, James P</creator><creator>Maser, Richard S</creator><creator>Olivares, Heidi</creator><creator>Davis, Elizabeth M</creator><creator>Le Beau, Michelle</creator><creator>Yates, John R</creator><creator>Hays, Lara</creator><creator>Morgan, William F</creator><creator>Petrini, John H.J</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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19980501</creationdate><title>The hMre11/hRad50 Protein Complex and Nijmegen Breakage Syndrome: Linkage of Double-Strand Break Repair to the Cellular DNA Damage Response</title><author>Carney, James P ; Maser, Richard S ; Olivares, Heidi ; Davis, Elizabeth M ; Le Beau, Michelle ; Yates, John R ; Hays, Lara ; Morgan, William F ; Petrini, John H.J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c490t-8c0a8821fe3f0896c83331a671ff4184eef3a6d3de07adfd28bfbab254eaa6fc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Acid Anhydride Hydrolases</topic><topic>Cell Cycle Proteins - analysis</topic><topic>Cell Cycle Proteins - chemistry</topic><topic>Cell Cycle Proteins - genetics</topic><topic>Cell Cycle Proteins - isolation & purification</topic><topic>Cell Cycle Proteins - physiology</topic><topic>Cell Line</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 8 - genetics</topic><topic>Cloning, Molecular</topic><topic>DNA Damage - genetics</topic><topic>DNA Repair - genetics</topic><topic>DNA Repair Enzymes</topic><topic>DNA, Complementary - genetics</topic><topic>DNA-Binding Proteins - analysis</topic><topic>DNA-Binding Proteins - genetics</topic><topic>DNA-Binding Proteins - metabolism</topic><topic>Fibroblasts - radiation effects</topic><topic>Genes, Recessive - genetics</topic><topic>HeLa Cells</topic><topic>Humans</topic><topic>Microcephaly - genetics</topic><topic>Molecular Sequence Data</topic><topic>Molecular Weight</topic><topic>MRE11 Homologue Protein</topic><topic>Nuclear Proteins</topic><topic>Proteins - analysis</topic><topic>Proteins - genetics</topic><topic>Proteins - metabolism</topic><topic>Radiation Tolerance</topic><topic>Radiation, Ionizing</topic><topic>RNA, Messenger - analysis</topic><topic>Sequence Homology, Amino Acid</topic><topic>Species Specificity</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Carney, James P</creatorcontrib><creatorcontrib>Maser, Richard S</creatorcontrib><creatorcontrib>Olivares, Heidi</creatorcontrib><creatorcontrib>Davis, Elizabeth M</creatorcontrib><creatorcontrib>Le Beau, Michelle</creatorcontrib><creatorcontrib>Yates, John R</creatorcontrib><creatorcontrib>Hays, Lara</creatorcontrib><creatorcontrib>Morgan, William F</creatorcontrib><creatorcontrib>Petrini, John H.J</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>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Cell</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Carney, James P</au><au>Maser, Richard S</au><au>Olivares, Heidi</au><au>Davis, Elizabeth M</au><au>Le Beau, Michelle</au><au>Yates, John R</au><au>Hays, Lara</au><au>Morgan, William F</au><au>Petrini, John H.J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The hMre11/hRad50 Protein Complex and Nijmegen Breakage Syndrome: Linkage of Double-Strand Break Repair to the Cellular DNA Damage Response</atitle><jtitle>Cell</jtitle><addtitle>Cell</addtitle><date>1998-05-01</date><risdate>1998</risdate><volume>93</volume><issue>3</issue><spage>477</spage><epage>486</epage><pages>477-486</pages><issn>0092-8674</issn><eissn>1097-4172</eissn><abstract>Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by increased cancer incidence, cell cycle checkpoint defects, and ionizing radiation sensitivity. We have isolated the gene encoding p95, a member of the hMre11/hRad50 double-strand break repair complex. The
p95 gene mapped to 8q21.3, the region that contains the
NBS locus, and p95 was absent from NBS cells established from NBS patients. p95 deficiency in these cells completely abrogates the formation of hMre11/hRad50 ionizing radiation-induced foci. Comparison of the
p95 cDNA to the
NBS1 cDNA indicated that the
p95 gene and
NBS1 are identical. The implication of hMre11/hRad50/p95 protein complex in NBS reveals a direct molecular link between DSB repair and cell cycle checkpoint functions.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>9590181</pmid><doi>10.1016/S0092-8674(00)81175-7</doi><tpages>10</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
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| ispartof | Cell, 1998-05, Vol.93 (3), p.477-486 |
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| source | MEDLINE; Cell Press Free Archives; Elsevier ScienceDirect Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Acid Anhydride Hydrolases Cell Cycle Proteins - analysis Cell Cycle Proteins - chemistry Cell Cycle Proteins - genetics Cell Cycle Proteins - isolation & purification Cell Cycle Proteins - physiology Cell Line Chromosome Mapping Chromosomes, Human, Pair 8 - genetics Cloning, Molecular DNA Damage - genetics DNA Repair - genetics DNA Repair Enzymes DNA, Complementary - genetics DNA-Binding Proteins - analysis DNA-Binding Proteins - genetics DNA-Binding Proteins - metabolism Fibroblasts - radiation effects Genes, Recessive - genetics HeLa Cells Humans Microcephaly - genetics Molecular Sequence Data Molecular Weight MRE11 Homologue Protein Nuclear Proteins Proteins - analysis Proteins - genetics Proteins - metabolism Radiation Tolerance Radiation, Ionizing RNA, Messenger - analysis Sequence Homology, Amino Acid Species Specificity Syndrome |
| title | The hMre11/hRad50 Protein Complex and Nijmegen Breakage Syndrome: Linkage of Double-Strand Break Repair to the Cellular DNA Damage Response |
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