Nature of frequent deletions in CEBPA
C/EBPα (CCAAT/enhancer binding protein alpha) belongs to the family of leucine zipper transcription factors and is necessary for transcriptional control of granulocyte, adipocyte and hepatocyte differentiation, glucose metabolism and lung development. C/EBPα is encoded by an intronless gene. CEBPA m...
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| Veröffentlicht in: | Blood cells, molecules, & diseases molecules, & diseases, 2009-11, Vol.43 (3), p.260-263 |
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| creator | Fuchs, Ota Kostecka, Arnost Provaznikova, Dana Krasna, Blazena Brezinova, Jana Filkukova, Jitka Kotlin, Roman Kouba, Michal Kobylka, Petr Neuwirtova, Radana Jonasova, Anna Caniga, Miroslav Schwarz, Jiri Markova, Jana Maaloufova, Jacqueline Sponerova, Dana Novakova, Ludmila Cermak, Jaroslav |
| description | C/EBPα (CCAAT/enhancer binding protein alpha) belongs to the family of leucine zipper transcription factors and is necessary for transcriptional control of granulocyte, adipocyte and hepatocyte differentiation, glucose metabolism and lung development. C/EBPα is encoded by an intronless gene.
CEBPA mutations cause a myeloid differentiation block and were detected in acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), multiple myeloma and non-Hodgkin's lymphoma (NHL) patients. In this study we identified in 41 individuals from 824 screened individuals (290 AML patients, 382 MDS patients, 56 NHL patients and 96 healthy individuals) a single class of 23 deletions in
CEBPA gene which involved a direct repeat of at least 2 bp. These mutations are characterised by the loss of one of two same repeats at the ends of deleted sequence. Three most frequent repeats included in these deletions in
CEBPA gene are CGCGAG (493–498_865–870), GCCAAGCAGC (508–517_907–916) and GG (486–487_885–886), all according to GenBank accession no.
NM_004364.2. A mechanism for deletion formation between two repetitive sequences can be recombination events in the repair process. Double-stranded cut in DNA can initiate these recombination events of adjacent DNA sequences. |
| doi_str_mv | 10.1016/j.bcmd.2009.07.001 |
| format | Article |
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CEBPA mutations cause a myeloid differentiation block and were detected in acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), multiple myeloma and non-Hodgkin's lymphoma (NHL) patients. In this study we identified in 41 individuals from 824 screened individuals (290 AML patients, 382 MDS patients, 56 NHL patients and 96 healthy individuals) a single class of 23 deletions in
CEBPA gene which involved a direct repeat of at least 2 bp. These mutations are characterised by the loss of one of two same repeats at the ends of deleted sequence. Three most frequent repeats included in these deletions in
CEBPA gene are CGCGAG (493–498_865–870), GCCAAGCAGC (508–517_907–916) and GG (486–487_885–886), all according to GenBank accession no.
NM_004364.2. A mechanism for deletion formation between two repetitive sequences can be recombination events in the repair process. Double-stranded cut in DNA can initiate these recombination events of adjacent DNA sequences.</description><identifier>ISSN: 1079-9796</identifier><identifier>EISSN: 1096-0961</identifier><identifier>DOI: 10.1016/j.bcmd.2009.07.001</identifier><identifier>PMID: 19651529</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Acute myeloid leukemia ; Amino Acid Sequence ; Amino Acid Substitution - genetics ; CCAAT-Enhancer-Binding Proteins - genetics ; CEBPA deletions ; Direct repeat ; Humans ; Leukemia, Myeloid, Acute - genetics ; Lymphoma, Non-Hodgkin - genetics ; Molecular Sequence Data ; Multiple Myeloma - genetics ; Myelodysplastic syndrome ; Myelodysplastic Syndromes - genetics ; Non-Hodgkin's lymphoma ; Repetitive Sequences, Nucleic Acid - genetics ; Sequence Deletion - genetics</subject><ispartof>Blood cells, molecules, & diseases, 2009-11, Vol.43 (3), p.260-263</ispartof><rights>2009 Elsevier Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c355t-1c4572501dbc303615040e306ce245fefd2a36a4b79460515f7352947d0e9e7d3</citedby><cites>FETCH-LOGICAL-c355t-1c4572501dbc303615040e306ce245fefd2a36a4b79460515f7352947d0e9e7d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.bcmd.2009.07.001$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3541,27915,27916,45986</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19651529$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Fuchs, Ota</creatorcontrib><creatorcontrib>Kostecka, Arnost</creatorcontrib><creatorcontrib>Provaznikova, Dana</creatorcontrib><creatorcontrib>Krasna, Blazena</creatorcontrib><creatorcontrib>Brezinova, Jana</creatorcontrib><creatorcontrib>Filkukova, Jitka</creatorcontrib><creatorcontrib>Kotlin, Roman</creatorcontrib><creatorcontrib>Kouba, Michal</creatorcontrib><creatorcontrib>Kobylka, Petr</creatorcontrib><creatorcontrib>Neuwirtova, Radana</creatorcontrib><creatorcontrib>Jonasova, Anna</creatorcontrib><creatorcontrib>Caniga, Miroslav</creatorcontrib><creatorcontrib>Schwarz, Jiri</creatorcontrib><creatorcontrib>Markova, Jana</creatorcontrib><creatorcontrib>Maaloufova, Jacqueline</creatorcontrib><creatorcontrib>Sponerova, Dana</creatorcontrib><creatorcontrib>Novakova, Ludmila</creatorcontrib><creatorcontrib>Cermak, Jaroslav</creatorcontrib><title>Nature of frequent deletions in CEBPA</title><title>Blood cells, molecules, & diseases</title><addtitle>Blood Cells Mol Dis</addtitle><description>C/EBPα (CCAAT/enhancer binding protein alpha) belongs to the family of leucine zipper transcription factors and is necessary for transcriptional control of granulocyte, adipocyte and hepatocyte differentiation, glucose metabolism and lung development. C/EBPα is encoded by an intronless gene.
CEBPA mutations cause a myeloid differentiation block and were detected in acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), multiple myeloma and non-Hodgkin's lymphoma (NHL) patients. In this study we identified in 41 individuals from 824 screened individuals (290 AML patients, 382 MDS patients, 56 NHL patients and 96 healthy individuals) a single class of 23 deletions in
CEBPA gene which involved a direct repeat of at least 2 bp. These mutations are characterised by the loss of one of two same repeats at the ends of deleted sequence. Three most frequent repeats included in these deletions in
CEBPA gene are CGCGAG (493–498_865–870), GCCAAGCAGC (508–517_907–916) and GG (486–487_885–886), all according to GenBank accession no.
NM_004364.2. A mechanism for deletion formation between two repetitive sequences can be recombination events in the repair process. Double-stranded cut in DNA can initiate these recombination events of adjacent DNA sequences.</description><subject>Acute myeloid leukemia</subject><subject>Amino Acid Sequence</subject><subject>Amino Acid Substitution - genetics</subject><subject>CCAAT-Enhancer-Binding Proteins - genetics</subject><subject>CEBPA deletions</subject><subject>Direct repeat</subject><subject>Humans</subject><subject>Leukemia, Myeloid, Acute - genetics</subject><subject>Lymphoma, Non-Hodgkin - genetics</subject><subject>Molecular Sequence Data</subject><subject>Multiple Myeloma - genetics</subject><subject>Myelodysplastic syndrome</subject><subject>Myelodysplastic Syndromes - genetics</subject><subject>Non-Hodgkin's lymphoma</subject><subject>Repetitive Sequences, Nucleic Acid - genetics</subject><subject>Sequence Deletion - genetics</subject><issn>1079-9796</issn><issn>1096-0961</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kM1LxDAQxYMo7rr6D3iQXsRT66RpEgNe1mX9gEU96Dm0yRSy9GNNWsH_3pRd8OZhmDn85vHeI-SSQkaBitttVpnWZjmAykBmAPSIzCkokcahx9MtVaqkEjNyFsIWIkHV3SmZUSU45bmak-vXchg9Jn2d1B6_RuyGxGKDg-u7kLguWa0f3pfn5KQum4AXh70gn4_rj9Vzunl7elktN6lhnA8pNQWXOQdqK8OACcqhAGQgDOYFr7G2eclEWVRSFQKig1qy6KKQFlChtGxBbva6O99HL2HQrQsGm6bssB-DlowJmIxHMt-TxvcheKz1zru29D-agp7a0Vs9taOndjRIHbPHp6uD_Fi1aP9eDnVE4H4PYAz57dDrYBx2Bq3zaAZte_ef_i93nnJ2</recordid><startdate>20091101</startdate><enddate>20091101</enddate><creator>Fuchs, Ota</creator><creator>Kostecka, Arnost</creator><creator>Provaznikova, Dana</creator><creator>Krasna, Blazena</creator><creator>Brezinova, Jana</creator><creator>Filkukova, Jitka</creator><creator>Kotlin, Roman</creator><creator>Kouba, Michal</creator><creator>Kobylka, Petr</creator><creator>Neuwirtova, Radana</creator><creator>Jonasova, Anna</creator><creator>Caniga, Miroslav</creator><creator>Schwarz, Jiri</creator><creator>Markova, Jana</creator><creator>Maaloufova, Jacqueline</creator><creator>Sponerova, Dana</creator><creator>Novakova, Ludmila</creator><creator>Cermak, Jaroslav</creator><general>Elsevier Inc</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>7X8</scope></search><sort><creationdate>20091101</creationdate><title>Nature of frequent deletions in CEBPA</title><author>Fuchs, Ota ; Kostecka, Arnost ; Provaznikova, Dana ; Krasna, Blazena ; Brezinova, Jana ; Filkukova, Jitka ; Kotlin, Roman ; Kouba, Michal ; Kobylka, Petr ; Neuwirtova, Radana ; Jonasova, Anna ; Caniga, Miroslav ; Schwarz, Jiri ; Markova, Jana ; Maaloufova, Jacqueline ; Sponerova, Dana ; Novakova, Ludmila ; Cermak, Jaroslav</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c355t-1c4572501dbc303615040e306ce245fefd2a36a4b79460515f7352947d0e9e7d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Acute myeloid leukemia</topic><topic>Amino Acid Sequence</topic><topic>Amino Acid Substitution - genetics</topic><topic>CCAAT-Enhancer-Binding Proteins - genetics</topic><topic>CEBPA deletions</topic><topic>Direct repeat</topic><topic>Humans</topic><topic>Leukemia, Myeloid, Acute - genetics</topic><topic>Lymphoma, Non-Hodgkin - genetics</topic><topic>Molecular Sequence Data</topic><topic>Multiple Myeloma - genetics</topic><topic>Myelodysplastic syndrome</topic><topic>Myelodysplastic Syndromes - genetics</topic><topic>Non-Hodgkin's lymphoma</topic><topic>Repetitive Sequences, Nucleic Acid - genetics</topic><topic>Sequence Deletion - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Fuchs, Ota</creatorcontrib><creatorcontrib>Kostecka, Arnost</creatorcontrib><creatorcontrib>Provaznikova, Dana</creatorcontrib><creatorcontrib>Krasna, Blazena</creatorcontrib><creatorcontrib>Brezinova, Jana</creatorcontrib><creatorcontrib>Filkukova, Jitka</creatorcontrib><creatorcontrib>Kotlin, Roman</creatorcontrib><creatorcontrib>Kouba, Michal</creatorcontrib><creatorcontrib>Kobylka, Petr</creatorcontrib><creatorcontrib>Neuwirtova, Radana</creatorcontrib><creatorcontrib>Jonasova, Anna</creatorcontrib><creatorcontrib>Caniga, Miroslav</creatorcontrib><creatorcontrib>Schwarz, Jiri</creatorcontrib><creatorcontrib>Markova, Jana</creatorcontrib><creatorcontrib>Maaloufova, Jacqueline</creatorcontrib><creatorcontrib>Sponerova, Dana</creatorcontrib><creatorcontrib>Novakova, Ludmila</creatorcontrib><creatorcontrib>Cermak, Jaroslav</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Blood cells, molecules, & diseases</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Fuchs, Ota</au><au>Kostecka, Arnost</au><au>Provaznikova, Dana</au><au>Krasna, Blazena</au><au>Brezinova, Jana</au><au>Filkukova, Jitka</au><au>Kotlin, Roman</au><au>Kouba, Michal</au><au>Kobylka, Petr</au><au>Neuwirtova, Radana</au><au>Jonasova, Anna</au><au>Caniga, Miroslav</au><au>Schwarz, Jiri</au><au>Markova, Jana</au><au>Maaloufova, Jacqueline</au><au>Sponerova, Dana</au><au>Novakova, Ludmila</au><au>Cermak, Jaroslav</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Nature of frequent deletions in CEBPA</atitle><jtitle>Blood cells, molecules, & diseases</jtitle><addtitle>Blood Cells Mol Dis</addtitle><date>2009-11-01</date><risdate>2009</risdate><volume>43</volume><issue>3</issue><spage>260</spage><epage>263</epage><pages>260-263</pages><issn>1079-9796</issn><eissn>1096-0961</eissn><abstract>C/EBPα (CCAAT/enhancer binding protein alpha) belongs to the family of leucine zipper transcription factors and is necessary for transcriptional control of granulocyte, adipocyte and hepatocyte differentiation, glucose metabolism and lung development. C/EBPα is encoded by an intronless gene.
CEBPA mutations cause a myeloid differentiation block and were detected in acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), multiple myeloma and non-Hodgkin's lymphoma (NHL) patients. In this study we identified in 41 individuals from 824 screened individuals (290 AML patients, 382 MDS patients, 56 NHL patients and 96 healthy individuals) a single class of 23 deletions in
CEBPA gene which involved a direct repeat of at least 2 bp. These mutations are characterised by the loss of one of two same repeats at the ends of deleted sequence. Three most frequent repeats included in these deletions in
CEBPA gene are CGCGAG (493–498_865–870), GCCAAGCAGC (508–517_907–916) and GG (486–487_885–886), all according to GenBank accession no.
NM_004364.2. A mechanism for deletion formation between two repetitive sequences can be recombination events in the repair process. Double-stranded cut in DNA can initiate these recombination events of adjacent DNA sequences.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>19651529</pmid><doi>10.1016/j.bcmd.2009.07.001</doi><tpages>4</tpages></addata></record> |
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| subjects | Acute myeloid leukemia Amino Acid Sequence Amino Acid Substitution - genetics CCAAT-Enhancer-Binding Proteins - genetics CEBPA deletions Direct repeat Humans Leukemia, Myeloid, Acute - genetics Lymphoma, Non-Hodgkin - genetics Molecular Sequence Data Multiple Myeloma - genetics Myelodysplastic syndrome Myelodysplastic Syndromes - genetics Non-Hodgkin's lymphoma Repetitive Sequences, Nucleic Acid - genetics Sequence Deletion - genetics |
| title | Nature of frequent deletions in CEBPA |
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