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BCL11A

December 15, 2023

B-cell lymphoma/leukemia 11A is a protein that in humans is encoded by the BCL11A gene.[5][6][7]

BCL11A
Identifiers
AliasesBCL11A, BCL11A-L, BCL11A-S, BCL11A-XL, BCL11a-M, CTIP1, EVI9, HBFQTL5, ZNF856, B-cell CLL/lymphoma 11A, DILOS, B cell CLL/lymphoma 11A, BAF complex component, BAF chromatin remodeling complex subunit SMARCM1
External IDsOMIM: 606557 MGI: 106190 HomoloGene: 11284 GeneCards: BCL11A
Orthologs
SpeciesHumanMouse
Entrez

53335

14025

Ensembl

ENSG00000119866

ENSMUSG00000000861

UniProt

Q9H165

Q9QYE3

RefSeq (mRNA)

NM_001159289
NM_001159290
NM_001242934
NM_016707

RefSeq (protein)

NP_060484
NP_075044
NP_612569
NP_001350793
NP_001352538

NP_001152761
NP_001152762
NP_001229863
NP_057916

Location (UCSC)Chr 2: 60.45 – 60.55 MbChr 11: 24.08 – 24.17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function edit

The BCL11A gene encodes for a regulatory C2H2 type zinc-finger protein, that can bind to the DNA. Five alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been reported.[7] The protein associates with the SWI/SNF complex, that regulates gene expression via chromatin remodeling.[8]

BCL11A is highly expressed in several hematopoietic lineages, and plays a role in the switch from γ- to β-globin expression during the fetal to adult erythropoiesis transition.[9]

Furthermore, BCL11A is expressed in the brain, where it forms a protein complex with CASK to regulate axon outgrowth and branching.[10] In the neocortex, BCL11A binds to the TBR1 regulatory region and inhibits the expression of TBR1.[11]

Clinical significance edit

The corresponding Bcl11a mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. In addition, BCL11A has been found to play a role in the suppression of fetal hemoglobin production. Therapeutic strategies aimed at increasing fetal hemoglobin production in diseases such as beta thalassemia and sickle cell anemia by inhibiting BCL11A are currently being explored.[12][13]

Furthermore, heterozygous de novo mutations in BCL11A have been identified in an intellectual disability disorder, accompanied with global developmental delay and autism spectrum disorder.[14] These mutations disrupt BCL11A homodimerization and transcriptional regulation.

BCL11A has also been identified as an important gene of interest in type-2 diabetes. Methylation of BCl11A has been hypothesized to contribute to type-2 diabetes risk, while BCL11a loss in a human islet model was demonstrated to result in an increase in insulin secretion.[15][16]

Interactions edit

BCL11A has been shown to interact with a number of proteins. BCL11A was initially discovered as a COUP-TFI interacting protein.[17] In the nucleus, BCL11A forms paraspeckles that co-localize with NONO.[14] In neurons, BCL11A interacts with CASK to regulate target genes.[10] Furthermore, BCL11A interacts with the neuron-specific protein TBR1, which is also implicated in intellectual disability and autism spectrum disorder.[18]

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000119866 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000861 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Satterwhite E, Sonoki T, Willis TG, Harder L, Nowak R, Arriola EL, Liu H, Price HP, Gesk S, Steinemann D, Schlegelberger B, Oscier DG, Siebert R, Tucker PW, Dyer MJ (December 2001). "The BCL11 gene family: involvement of BCL11A in lymphoid malignancies". Blood. 98 (12): 3413–20. doi:10.1182/blood.V98.12.3413. PMID 11719382.
  6. ^ Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, et al. (February 2008). "Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia". Proceedings of the National Academy of Sciences of the United States of America. 105 (5): 1620–5. Bibcode:2008PNAS..105.1620U. doi:10.1073/pnas.0711566105. PMC 2234194. PMID 18245381.
  7. ^ a b "Entrez Gene: BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)".
  8. ^ Kadoch C, Hargreaves DC, Hodges C, Elias L, Ho L, Ranish J, Crabtree GR (June 2013). "Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy". Nature Genetics. 45 (6): 592–601. doi:10.1038/ng.2628. PMC 3667980. PMID 23644491.
  9. ^ Smith EC, Luc S, Croney DM, Woodworth MB, Greig LC, Fujiwara Y, Nguyen M, Sher F, Macklis JD, Bauer DE, Orkin SH (November 2016). "Bcl11a erythroid enhancer". Blood. 128 (19): 2338–2342. doi:10.1182/blood-2016-08-736249. PMC 5106112. PMID 27707736.
  10. ^ a b Kuo TY, Hong CJ, Chien HL, Hsueh YP (August 2010). "X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching and outgrowth". Journal of Neuroscience Research (in German). 88 (11): 2364–73. doi:10.1002/jnr.22407. PMID 20623620. S2CID 19810502.
  11. ^ Cánovas J, Berndt FA, Sepúlveda H, Aguilar R, Veloso FA, Montecino M, Oliva C, Maass JC, Sierralta J, Kukuljan M (May 2015). "The Specification of Cortical Subcerebral Projection Neurons Depends on the Direct Repression of TBR1 by CTIP1/BCL11a". The Journal of Neuroscience. 35 (19): 7552–64. doi:10.1523/JNEUROSCI.0169-15.2015. PMC 6705430. PMID 25972180.
  12. ^ Zipkin, Mark (2019-12-06). "CRISPR's "magnificent moment" in the clinic". Nature Biotechnology. doi:10.1038/d41587-019-00035-2. PMID 33277639. S2CID 213060203.
  13. ^ "Sickle cell: 'The revolutionary gene-editing treatment that gave me new life'". BBC News. 2022-02-20. Retrieved 2023-03-27.
  14. ^ a b Dias C, Estruch SB, Graham SA, McRae J, Sawiak SJ, Hurst JA, Joss SK, Holder SE, Morton JE, Turner C, Thevenon J, Mellul K, Sánchez-Andrade G, Ibarra-Soria X, Deriziotis P, Santos RF, Lee SC, Faivre L, Kleefstra T, Liu P, Hurles ME, Fisher SE, Logan DW (August 2016). "BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription". American Journal of Human Genetics. 99 (2): 253–74. doi:10.1016/j.ajhg.2016.05.030. PMC 4974071. PMID 27453576.
  15. ^ Peiris H, Park S, Louis S, Gu X, Lam JY, Asplund O, Ippolito GC, Bottino R, Groop L, Tucker H, Kim SK (September 2018). "Discovering human diabetes-risk gene function with genetics and physiological assays". Nature Communications. 9 (1): 3855. Bibcode:2018NatCo...9.3855P. doi:10.1038/s41467-018-06249-3. PMC 6155000. PMID 30242153.
  16. ^ Tang L, Wang L, Ye H, Xu X, Hong Q, Wang H, et al. (August 2014). "BCL11A gene DNA methylation contributes to the risk of type 2 diabetes in males". Experimental and Therapeutic Medicine. 8 (2): 459–463. doi:10.3892/etm.2014.1783. PMC 4079426. PMID 25009601.
  17. ^ Avram D, Fields A, Senawong T, Topark-Ngarm A, Leid M (December 2002). "COUP-TF (chicken ovalbumin upstream promoter transcription factor)-interacting protein 1 (CTIP1) is a sequence-specific DNA binding protein". The Biochemical Journal. 368 (Pt 2): 555–63. doi:10.1042/bj20020496. PMC 1223006. PMID 12196208.
  18. ^ den Hoed J, Sollis E, Venselaar H, Estruch SB, Deriziotis P, Fisher SE (September 2018). "Functional characterization of TBR1 variants in neurodevelopmental disorder". Scientific Reports. 8 (1): 14279. Bibcode:2018NatSR...814279D. doi:10.1038/s41598-018-32053-6. PMC 6155134. PMID 30250039.

Further reading edit

  • Sanger Centre, The; Washington University Genome Sequencing Cente, The (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
  • Avram D, Fields A, Pretty On Top K, Nevrivy DJ, Ishmael JE, Leid M (April 2000). "Isolation of a novel family of C(2)H(2) zinc finger proteins implicated in transcriptional repression mediated by chicken ovalbumin upstream promoter transcription factor (COUP-TF) orphan nuclear receptors". The Journal of Biological Chemistry. 275 (14): 10315–22. doi:10.1074/jbc.275.14.10315. PMC 2819356. PMID 10744719.
  • Nakamura T, Yamazaki Y, Saiki Y, Moriyama M, Largaespada DA, Jenkins NA, Copeland NG (May 2000). "Evi9 encodes a novel zinc finger protein that physically interacts with BCL6, a known human B-cell proto-oncogene product". Molecular and Cellular Biology. 20 (9): 3178–86. doi:10.1128/MCB.20.9.3178-3186.2000. PMC 85612. PMID 10757802.
  • Saiki Y, Yamazaki Y, Yoshida M, Katoh O, Nakamura T (December 2000). "Human EVI9, a homologue of the mouse myeloid leukemia gene, is expressed in the hematopoietic progenitors and down-regulated during myeloid differentiation of HL60 cells". Genomics. 70 (3): 387–91. doi:10.1006/geno.2000.6385. PMID 11161790.
  • Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (April 2001). "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.
  • Martín-Subero JI, Gesk S, Harder L, Sonoki T, Tucker PW, Schlegelberger B, Grote W, Novo FJ, Calasanz MJ, Hansmann ML, Dyer MJ, Siebert R (February 2002). "Recurrent involvement of the REL and BCL11A loci in classical Hodgkin lymphoma". Blood. 99 (4): 1474–7. doi:10.1182/blood.V99.4.1474. PMID 11830502.
  • Küppers R, Sonoki T, Satterwhite E, Gesk S, Harder L, Oscier DG, Tucker PW, Dyer MJ, Siebert R (May 2002). "Lack of somatic hypermutation of IG V(H) genes in lymphoid malignancies with t(2;14)(p13;q32) translocation involving the BCL11A gene". Leukemia. 16 (5): 937–9. doi:10.1038/sj.leu.2402480. PMID 11986957.
  • Senawong T, Peterson VJ, Leid M (February 2005). "BCL11A-dependent recruitment of SIRT1 to a promoter template in mammalian cells results in histone deacetylation and transcriptional repression". Archives of Biochemistry and Biophysics. 434 (2): 316–25. doi:10.1016/j.abb.2004.10.028. PMC 2819353. PMID 15639232.
  • Liu H, Ippolito GC, Wall JK, Niu T, Probst L, Lee BS, Pulford K, Banham AH, Stockwin L, Shaffer AL, Staudt LM, Das C, Dyer MJ, Tucker PW (May 2006). "Functional studies of BCL11A: characterization of the conserved BCL11A-XL splice variant and its interaction with BCL6 in nuclear paraspeckles of germinal center B cells". Molecular Cancer. 5: 18. doi:10.1186/1476-4598-5-18. PMC 1526750. PMID 16704730.
  • Weniger MA, Pulford K, Gesk S, Ehrlich S, Banham AH, Lyne L, Martin-Subero JI, Siebert R, Dyer MJ, Möller P, Barth TF (October 2006). "Gains of the proto-oncogene BCL11A and nuclear accumulation of BCL11A(XL) protein are frequent in primary mediastinal B-cell lymphoma". Leukemia. 20 (10): 1880–2. doi:10.1038/sj.leu.2404324. PMID 16871282.
  • Szafranski K, Schindler S, Taudien S, Hiller M, Huse K, Jahn N, Schreiber S, Backofen R, Platzer M (2007). "Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns". Genome Biology. 8 (8): R154. doi:10.1186/gb-2007-8-8-r154. PMC 2374985. PMID 17672918.

External links edit

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

 

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.

December 15, 2023
bcl11a, cell, lymphoma, leukemia, protein, that, humans, encoded, gene, identifiersaliases, bcl11a, ctip1, evi9, hbfqtl5, znf856, cell, lymphoma, dilos, cell, lymphoma, complex, component, chromatin, remodeling, complex, subunit, smarcm1external, idsomim, 6065. B cell lymphoma leukemia 11A is a protein that in humans is encoded by the BCL11A gene 5 6 7 BCL11AIdentifiersAliasesBCL11A BCL11A L BCL11A S BCL11A XL BCL11a M CTIP1 EVI9 HBFQTL5 ZNF856 B cell CLL lymphoma 11A DILOS B cell CLL lymphoma 11A BAF complex component BAF chromatin remodeling complex subunit SMARCM1External IDsOMIM 606557 MGI 106190 HomoloGene 11284 GeneCards BCL11AGene location Human Chr Chromosome 2 human 1 Band2p16 1Start60 450 520 bp 1 End60 554 467 bp 1 Gene location Mouse Chr Chromosome 11 mouse 2 Band11 11 A3 2Start24 078 056 bp 2 End24 174 123 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inganglionic eminenceBrodmann area 23middle temporal gyruspostcentral gyrusRegion I of hippocampus propersuperior frontal gyrusthymusorbitofrontal cortexentorhinal cortexcavity of mouthTop expressed inbarrel cortexganglionic eminencepiriform cortexprimary motor cortexsubiculummedial ganglionic eminenceolfactory tubercleRegion I of hippocampus properolfactory bulbnucleus accumbensMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionprotein homodimerization activity metal ion binding RNA polymerase II cis regulatory region sequence specific DNA binding DNA binding transcription repressor activity RNA polymerase II specific protein binding protein heterodimerization activity nucleic acid binding DNA binding transcription factor activity RNA polymerase II specific DNA binding transcription factor activity protein kinase binding sequence specific DNA bindingCellular componentcytoplasm nucleoplasm nucleus postsynaptic densityBiological processnegative regulation of protein homooligomerization negative regulation of neuron projection development regulation of transcription DNA templated regulation of dendrite development negative regulation of transcription by RNA polymerase II positive regulation of collateral sprouting protein sumoylation transcription DNA templated negative regulation of collateral sprouting positive regulation of neuron projection development negative regulation of axon extension signal transduction positive regulation of transcription by RNA polymerase II neurogenesis negative regulation of dendrite development positive regulation of gene expression negative regulation of dendrite extension negative regulation of neuron remodeling cellular response to L glutamate negative regulation of branching morphogenesis of a nerveSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez5333514025EnsemblENSG00000119866ENSMUSG00000000861UniProtQ9H165Q9QYE3RefSeq mRNA NM 018014NM 022893NM 138553NM 138559NM 001363864NM 001365609NM 001159289NM 001159290NM 001242934NM 016707RefSeq protein NP 060484NP 075044NP 612569NP 001350793NP 001352538NP 001152761NP 001152762NP 001229863NP 057916Location UCSC Chr 2 60 45 60 55 MbChr 11 24 08 24 17 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 Interactions 4 References 5 Further reading 6 External linksFunction editThe BCL11A gene encodes for a regulatory C2H2 type zinc finger protein that can bind to the DNA Five alternatively spliced transcript variants of this gene which encode distinct isoforms have been reported 7 The protein associates with the SWI SNF complex that regulates gene expression via chromatin remodeling 8 BCL11A is highly expressed in several hematopoietic lineages and plays a role in the switch from g to b globin expression during the fetal to adult erythropoiesis transition 9 Furthermore BCL11A is expressed in the brain where it forms a protein complex with CASK to regulate axon outgrowth and branching 10 In the neocortex BCL11A binds to the TBR1 regulatory region and inhibits the expression of TBR1 11 Clinical significance editThe corresponding Bcl11a mouse gene is a common site of retroviral integration in myeloid leukemia and may function as a leukemia disease gene in part through its interaction with BCL6 During hematopoietic cell differentiation this gene is down regulated It is possibly involved in lymphoma pathogenesis since translocations associated with B cell malignancies also deregulates its expression In addition BCL11A has been found to play a role in the suppression of fetal hemoglobin production Therapeutic strategies aimed at increasing fetal hemoglobin production in diseases such as beta thalassemia and sickle cell anemia by inhibiting BCL11A are currently being explored 12 13 Furthermore heterozygous de novo mutations in BCL11A have been identified in an intellectual disability disorder accompanied with global developmental delay and autism spectrum disorder 14 These mutations disrupt BCL11A homodimerization and transcriptional regulation BCL11A has also been identified as an important gene of interest in type 2 diabetes Methylation of BCl11A has been hypothesized to contribute to type 2 diabetes risk while BCL11a loss in a human islet model was demonstrated to result in an increase in insulin secretion 15 16 Interactions editBCL11A has been shown to interact with a number of proteins BCL11A was initially discovered as a COUP TFI interacting protein 17 In the nucleus BCL11A forms paraspeckles that co localize with NONO 14 In neurons BCL11A interacts with CASK to regulate target genes 10 Furthermore BCL11A interacts with the neuron specific protein TBR1 which is also implicated in intellectual disability and autism spectrum disorder 18 References edit a b c GRCh38 Ensembl release 89 ENSG00000119866 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000000861 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Satterwhite E Sonoki T Willis TG Harder L Nowak R Arriola EL Liu H Price HP Gesk S Steinemann D Schlegelberger B Oscier DG Siebert R Tucker PW Dyer MJ December 2001 The BCL11 gene family involvement of BCL11A in lymphoid malignancies Blood 98 12 3413 20 doi 10 1182 blood V98 12 3413 PMID 11719382 Uda M Galanello R Sanna S Lettre G Sankaran VG Chen W et al February 2008 Genome wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta thalassemia Proceedings of the National Academy of Sciences of the United States of America 105 5 1620 5 Bibcode 2008PNAS 105 1620U doi 10 1073 pnas 0711566105 PMC 2234194 PMID 18245381 a b Entrez Gene BCL11A B cell CLL lymphoma 11A zinc finger protein Kadoch C Hargreaves DC Hodges C Elias L Ho L Ranish J Crabtree GR June 2013 Proteomic and bioinformatic analysis of mammalian SWI SNF complexes identifies extensive roles in human malignancy Nature Genetics 45 6 592 601 doi 10 1038 ng 2628 PMC 3667980 PMID 23644491 Smith EC Luc S Croney DM Woodworth MB Greig LC Fujiwara Y Nguyen M Sher F Macklis JD Bauer DE Orkin SH November 2016 Bcl11a erythroid enhancer Blood 128 19 2338 2342 doi 10 1182 blood 2016 08 736249 PMC 5106112 PMID 27707736 a b Kuo TY Hong CJ Chien HL Hsueh YP August 2010 X linked mental retardation gene CASK interacts with Bcl11A CTIP1 and regulates axon branching and outgrowth Journal of Neuroscience Research in German 88 11 2364 73 doi 10 1002 jnr 22407 PMID 20623620 S2CID 19810502 Canovas J Berndt FA Sepulveda H Aguilar R Veloso FA Montecino M Oliva C Maass JC Sierralta J Kukuljan M May 2015 The Specification of Cortical Subcerebral Projection Neurons Depends on the Direct Repression of TBR1 by CTIP1 BCL11a The Journal of Neuroscience 35 19 7552 64 doi 10 1523 JNEUROSCI 0169 15 2015 PMC 6705430 PMID 25972180 Zipkin Mark 2019 12 06 CRISPR s magnificent moment in the clinic Nature Biotechnology doi 10 1038 d41587 019 00035 2 PMID 33277639 S2CID 213060203 Sickle cell The revolutionary gene editing treatment that gave me new life BBC News 2022 02 20 Retrieved 2023 03 27 a b Dias C Estruch SB Graham SA McRae J Sawiak SJ Hurst JA Joss SK Holder SE Morton JE Turner C Thevenon J Mellul K Sanchez Andrade G Ibarra Soria X Deriziotis P Santos RF Lee SC Faivre L Kleefstra T Liu P Hurles ME Fisher SE Logan DW August 2016 BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription American Journal of Human Genetics 99 2 253 74 doi 10 1016 j ajhg 2016 05 030 PMC 4974071 PMID 27453576 Peiris H Park S Louis S Gu X Lam JY Asplund O Ippolito GC Bottino R Groop L Tucker H Kim SK September 2018 Discovering human diabetes risk gene function with genetics and physiological assays Nature Communications 9 1 3855 Bibcode 2018NatCo 9 3855P doi 10 1038 s41467 018 06249 3 PMC 6155000 PMID 30242153 Tang L Wang L Ye H Xu X Hong Q Wang H et al August 2014 BCL11A gene DNA methylation contributes to the risk of type 2 diabetes in males Experimental and Therapeutic Medicine 8 2 459 463 doi 10 3892 etm 2014 1783 PMC 4079426 PMID 25009601 Avram D Fields A Senawong T Topark Ngarm A Leid M December 2002 COUP TF chicken ovalbumin upstream promoter transcription factor interacting protein 1 CTIP1 is a sequence specific DNA binding protein The Biochemical Journal 368 Pt 2 555 63 doi 10 1042 bj20020496 PMC 1223006 PMID 12196208 den Hoed J Sollis E Venselaar H Estruch SB Deriziotis P Fisher SE September 2018 Functional characterization of TBR1 variants in neurodevelopmental disorder Scientific Reports 8 1 14279 Bibcode 2018NatSR 814279D doi 10 1038 s41598 018 32053 6 PMC 6155134 PMID 30250039 Further reading editSanger Centre The Washington University Genome Sequencing Cente The November 1998 Toward a complete human genome sequence Genome Research 8 11 1097 108 doi 10 1101 gr 8 11 1097 PMID 9847074 Avram D Fields A Pretty On Top K Nevrivy DJ Ishmael JE Leid M April 2000 Isolation of a novel family of C 2 H 2 zinc finger proteins implicated in transcriptional repression mediated by chicken ovalbumin upstream promoter transcription factor COUP TF orphan nuclear receptors The Journal of Biological Chemistry 275 14 10315 22 doi 10 1074 jbc 275 14 10315 PMC 2819356 PMID 10744719 Nakamura T Yamazaki Y Saiki Y Moriyama M Largaespada DA Jenkins NA Copeland NG May 2000 Evi9 encodes a novel zinc finger protein that physically interacts with BCL6 a known human B cell proto oncogene product Molecular and Cellular Biology 20 9 3178 86 doi 10 1128 MCB 20 9 3178 3186 2000 PMC 85612 PMID 10757802 Saiki Y Yamazaki Y Yoshida M Katoh O Nakamura T December 2000 Human EVI9 a homologue of the mouse myeloid leukemia gene is expressed in the hematopoietic progenitors and down regulated during myeloid differentiation of HL60 cells Genomics 70 3 387 91 doi 10 1006 geno 2000 6385 PMID 11161790 Nagase T Nakayama M Nakajima D Kikuno R Ohara O April 2001 Prediction of the coding sequences of unidentified human genes XX The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro DNA Research 8 2 85 95 doi 10 1093 dnares 8 2 85 PMID 11347906 Martin Subero JI Gesk S Harder L Sonoki T Tucker PW Schlegelberger B Grote W Novo FJ Calasanz MJ Hansmann ML Dyer MJ Siebert R February 2002 Recurrent involvement of the REL and BCL11A loci in classical Hodgkin lymphoma Blood 99 4 1474 7 doi 10 1182 blood V99 4 1474 PMID 11830502 Kuppers R Sonoki T Satterwhite E Gesk S Harder L Oscier DG Tucker PW Dyer MJ Siebert R May 2002 Lack of somatic hypermutation of IG V H genes in lymphoid malignancies with t 2 14 p13 q32 translocation involving the BCL11A gene Leukemia 16 5 937 9 doi 10 1038 sj leu 2402480 PMID 11986957 Senawong T Peterson VJ Leid M February 2005 BCL11A dependent recruitment of SIRT1 to a promoter template in mammalian cells results in histone deacetylation and transcriptional repression Archives of Biochemistry and Biophysics 434 2 316 25 doi 10 1016 j abb 2004 10 028 PMC 2819353 PMID 15639232 Liu H Ippolito GC Wall JK Niu T Probst L Lee BS Pulford K Banham AH Stockwin L Shaffer AL Staudt LM Das C Dyer MJ Tucker PW May 2006 Functional studies of BCL11A characterization of the conserved BCL11A XL splice variant and its interaction with BCL6 in nuclear paraspeckles of germinal center B cells Molecular Cancer 5 18 doi 10 1186 1476 4598 5 18 PMC 1526750 PMID 16704730 Weniger MA Pulford K Gesk S Ehrlich S Banham AH Lyne L Martin Subero JI Siebert R Dyer MJ Moller P Barth TF October 2006 Gains of the proto oncogene BCL11A and nuclear accumulation of BCL11A XL protein are frequent in primary mediastinal B cell lymphoma Leukemia 20 10 1880 2 doi 10 1038 sj leu 2404324 PMID 16871282 Szafranski K Schindler S Taudien S Hiller M Huse K Jahn N Schreiber S Backofen R Platzer M 2007 Violating the splicing rules TG dinucleotides function as alternative 3 splice sites in U2 dependent introns Genome Biology 8 8 R154 doi 10 1186 gb 2007 8 8 r154 PMC 2374985 PMID 17672918 External links editBCL11A protein human at the U S National Library of Medicine Medical Subject Headings MeSH FactorBook BCL11A Human BCL11A genome location and BCL11A gene details page in the UCSC Genome Browser This article incorporates text from the United States National Library of Medicine which is in the public domain nbsp This article on a gene on human chromosome 2 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title BCL11A amp oldid 1187880099, wikipedia, wiki, book, books, library,

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