BCL11B

Summary

Gene Symbol: BCL11B
Description: B cell CLL/lymphoma 11B
Alias: ATL1, ATL1-alpha, ATL1-beta, ATL1-delta, ATL1-gamma, CTIP-2, CTIP2, IMD49, RIT1, ZNF856B, hRIT1-alpha, B-cell lymphoma/leukemia 11B, B-cell CLL/lymphoma 11B (zinc finger protein), B-cell CLL/lymphoma 11B/T-cell receptor delta constant region fusion protein, B-cell lymphoma/leukaemia 11B, BCL-11B, BCL11B/TRDC fusion, COUP-TF-interacting protein 2, hRit1, radiation-induced tumor suppressor gene 1 protein, zinc finger protein hRit1 alpha
Species: human
Products:     BCL11B

Top Publications

  1. Avram D, Fields A, Senawong T, Topark Ngarm A, Leid M. COUP-TF (chicken ovalbumin upstream promoter transcription factor)-interacting protein 1 (CTIP1) is a sequence-specific DNA binding protein. Biochem J. 2002;368:555-63 pubmed
    ..transcription factor (COUP-TF)-interacting proteins 1 and 2 [CTIP1/Evi9/B cell leukaemia (Bcl) l1a and CTIP2/Bcl11b respectively] are highly related C(2)H(2) zinc finger proteins that are abundantly expressed in brain and the ..
  2. Rohr O, Lecestre D, Chasserot Golaz S, Marban C, Avram D, Aunis D, et al. Recruitment of Tat to heterochromatin protein HP1 via interaction with CTIP2 inhibits human immunodeficiency virus type 1 replication in microglial cells. J Virol. 2003;77:5415-27 pubmed
    ..nuclear receptor cofactor chicken ovalbumin upstream promoter transcription factor-interacting protein 2 (CTIP2)...
  3. Senawong T, Peterson V, Avram D, Shepherd D, Frye R, Minucci S, et al. Involvement of the histone deacetylase SIRT1 in chicken ovalbumin upstream promoter transcription factor (COUP-TF)-interacting protein 2-mediated transcriptional repression. J Biol Chem. 2003;278:43041-50 pubmed
    Chicken ovalbumin upstream promoter transcription factor (COUP-TF)-interacting proteins 1 and 2 (CTIP1 and CTIP2) enhance transcriptional repression mediated by COUP-TF II and have been implicated in hematopoietic cell development and ..
  4. Abbas S, Sanders M, Zeilemaker A, Geertsma Kleinekoort W, Koenders J, Kavelaars F, et al. Integrated genome-wide genotyping and gene expression profiling reveals BCL11B as a putative oncogene in acute myeloid leukemia with 14q32 aberrations. Haematologica. 2014;99:848-57 pubmed publisher
    ..acute myeloid leukemia, we disclosed a recurrent focal amplification on chromosome 14q32, which included the genes BCL11B, CCNK, C14orf177 and SETD3, in two cases...
  5. Obata M, Kominami R, Mishima Y. BCL11B tumor suppressor inhibits HDM2 expression in a p53-dependent manner. Cell Signal. 2012;24:1047-52 pubmed publisher
    b>BCL11B is a C2H2 zinc finger transcription factor that acts as a haploinsufficient tumor suppressor...
  6. Le Douce V, Colin L, Redel L, Cherrier T, Herbein G, Aunis D, et al. LSD1 cooperates with CTIP2 to promote HIV-1 transcriptional silencing. Nucleic Acids Res. 2012;40:1904-15 pubmed publisher
    ..We have previously demonstrated that the cellular cofactor CTIP2 forces heterochromatin formation and HIV-1 gene silencing by recruiting HDAC and HMT activities at the integrated ..
  7. Przybylski G, Dik W, Wanzeck J, Grabarczyk P, Majunke S, Martin Subero J, et al. Disruption of the BCL11B gene through inv(14)(q11.2q32.31) results in the expression of BCL11B-TRDC fusion transcripts and is associated with the absence of wild-type BCL11B transcripts in T-ALL. Leukemia. 2005;19:201-8 pubmed
    ..2q32.31), in a T-ALL sample, involving the recently described BCL11B gene and the TCRD locus...
  8. Marban C, Redel L, Suzanne S, Van Lint C, Lecestre D, Chasserot Golaz S, et al. COUP-TF interacting protein 2 represses the initial phase of HIV-1 gene transcription in human microglial cells. Nucleic Acids Res. 2005;33:2318-31 pubmed
    ..can be repressed by the chicken ovalbumin upstream promoter transcription factor (COUP-TF)-interacting protein 2 (CTIP2) in human microglial cells [O. Rohr, D. Lecestre, S. Chasserot-Golaz, C. Marban, D. Avram, D. Aunis, M. Leid and E...
  9. Ganguli Indra G, Wasylyk C, Liang X, Millon R, Leid M, Wasylyk B, et al. CTIP2 expression in human head and neck squamous cell carcinoma is linked to poorly differentiated tumor status. PLoS ONE. 2009;4:e5367 pubmed publisher
    We have demonstrated earlier that CTIP2 is highly expressed in mouse skin during embryogenesis and in adulthood...

More Information

Publications98

  1. Topark Ngarm A, Golonzhka O, Peterson V, Barrett B, Martinez B, Crofoot K, et al. CTIP2 associates with the NuRD complex on the promoter of p57KIP2, a newly identified CTIP2 target gene. J Biol Chem. 2006;281:32272-83 pubmed
    Chicken ovalbumin upstream promoter transcription factor (COUP-TF)-interacting protein 2 (CTIP2), also known as Bcl11b, is a transcriptional repressor that functions by direct, sequence-specific DNA binding activity or by recruitment to ..
  2. Satterwhite E, Sonoki T, Willis T, Harder L, Nowak R, Arriola E, et al. The BCL11 gene family: involvement of BCL11A in lymphoid malignancies. Blood. 2001;98:3413-20 pubmed
    ..BCL11A was also highly homologous to another gene (BCL11B) on chromosome 14q32.1...
  3. Kominami R. Role of the transcription factor Bcl11b in development and lymphomagenesis. Proc Jpn Acad Ser B Phys Biol Sci. 2012;88:72-87 pubmed
    b>Bcl11b is a lineage-specific transcription factor expressed in various cell types and its expression is important for development of T cells, neurons and others...
  4. Cherrier T, Suzanne S, Redel L, Calao M, Marban C, Samah B, et al. p21(WAF1) gene promoter is epigenetically silenced by CTIP2 and SUV39H1. Oncogene. 2009;28:3380-9 pubmed publisher
    ..Here, we report that COUP-TF-interacting protein 2 (CTIP2), recruited to the p21 gene promoter, silenced p21 gene transcription through interactions with histone ..
  5. Cismasiu V, Adamo K, Gecewicz J, Duque J, Lin Q, Avram D. BCL11B functionally associates with the NuRD complex in T lymphocytes to repress targeted promoter. Oncogene. 2005;24:6753-64 pubmed
    ..Specifically, disruption of the BCL11B (B-cell chronic lymphocytic leukemia/lymphoma 11B) locus is linked to T-cell acute lymphoblastic leukemia, and the ..
  6. Bezrookove V, Van Zelderen Bhola S, Brink A, Szuhai K, Raap A, Barge R, et al. A novel t(6;14)(q25-q27;q32) in acute myelocytic leukemia involves the BCL11B gene. Cancer Genet Cytogenet. 2004;149:72-6 pubmed
    ..2 was within bacterial artificial chromosome RP11-782I5 and revealed BCL11B as the only candidate gene in the region...
  7. MacLeod R, Nagel S, Drexler H. BCL11B rearrangements probably target T-cell neoplasia rather than acute myelocytic leukemia. Cancer Genet Cytogenet. 2004;153:88-9 pubmed
  8. Avram D, Fields A, Pretty On Top K, Nevrivy D, Ishmael J, Leid M. 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. J Biol Chem. 2000;275:10315-22 pubmed
    Two novel and related C(2)H(2) zinc finger proteins that are highly expressed in the brain, CTIP1 and CTIP2 (COUP TF-interacting proteins 1 and 2, respectively), were isolated and shown to interact with all members of the chicken ..
  9. Kraszewska M, Dawidowska M, Kosmalska M, Sedek L, Grzeszczak W, Kowalczyk J, et al. BCL11B, FLT3, NOTCH1 and FBXW7 mutation status in T-cell acute lymphoblastic leukemia patients. Blood Cells Mol Dis. 2013;50:33-8 pubmed publisher
    ..Here, we characterized mutation status of BCL11B and FLT3 genes, presumably involved in T-ALL, together with FBXW7 and NOTCH1 as known players in T-ALL in 65 ..
  10. Cismasiu V, Ghanta S, Duque J, Albu D, Chen H, Kasturi R, et al. BCL11B participates in the activation of IL2 gene expression in CD4+ T lymphocytes. Blood. 2006;108:2695-702 pubmed
    BCL11A and BCL11B are transcriptional regulators important for lymphopoiesis and previously associated with hematopoietic malignancies...
  11. Wakabayashi Y, Inoue J, Takahashi Y, Matsuki A, Kosugi Okano H, Shinbo T, et al. Homozygous deletions and point mutations of the Rit1/Bcl11b gene in gamma-ray induced mouse thymic lymphomas. Biochem Biophys Res Commun. 2003;301:598-603 pubmed
    ..analysis were conducted for gamma-ray induced mouse thymic lymphomas and a novel tumor suppressor gene, Rit1/Bcl11b, on chromosome 12 was isolated...
  12. Marban C, Suzanne S, Dequiedt F, De Walque S, Redel L, Van Lint C, et al. Recruitment of chromatin-modifying enzymes by CTIP2 promotes HIV-1 transcriptional silencing. EMBO J. 2007;26:412-23 pubmed
    ..In the present work, we show that, in microglial cells, the co-repressor COUP-TF interacting protein 2 (CTIP2) recruits a multienzymatic chromatin-modifying complex and establishes a heterochromatic environment at the HIV-1 ..
  13. Gutierrez A, Kentsis A, Sanda T, Holmfeldt L, Chen S, Zhang J, et al. The BCL11B tumor suppressor is mutated across the major molecular subtypes of T-cell acute lymphoblastic leukemia. Blood. 2011;118:4169-73 pubmed publisher
    The BCL11B transcription factor is required for normal T-cell development, and has recently been implicated in the pathogenesis of T-cell acute lymphoblastic leukemia (T-ALL) induced by TLX overexpression or Atm deficiency...
  14. Kamimura K, Mishima Y, Obata M, Endo T, Aoyagi Y, Kominami R. Lack of Bcl11b tumor suppressor results in vulnerability to DNA replication stress and damages. Oncogene. 2007;26:5840-50 pubmed
    b>Bcl11b/Rit1 is involved in T-cell development and undergoes chromosomal rearrangements in human T-cell leukemias...
  15. He Y, Jiang Z, Chen C, Wang X. Classification of triple-negative breast cancers based on Immunogenomic profiling. J Exp Clin Cancer Res. 2018;37:327 pubmed publisher
    ..we identified a gene co-expression subnetwork centered around five transcription factor (TF) genes (CORO1A, STAT4, BCL11B, ZNF831, and EOMES) specifically significant in the Immunity_H subtype and a subnetwork centered around two TF ..
  16. Yu Y, Tsang J, Wang C, Clare S, Wang J, Chen X, et al. Single-cell RNA-seq identifies a PD-1hi ILC progenitor and defines its development pathway. Nature. 2016;539:102-106 pubmed publisher
    ..as an early checkpoint in ILC2 development, which was abolished by deficiency in the zinc-finger protein Bcl11b but restored by IL-25R overexpression. Similar to T lymphocytes, PD-1 was upregulated on activated ILCs...
  17. Gensous N, Franceschi C, Blomberg B, Pirazzini C, Ravaioli F, Gentilini D, et al. Responders and non-responders to influenza vaccination: A DNA methylation approach on blood cells. Exp Gerontol. 2018;105:94-100 pubmed publisher
    ..probes mapped in genes involved in immunosenescence (CD40) and in innate immunity responses (CXCL16, ULK1, BCL11B, BTC)...
  18. Li W, Jiang Z, Li T, Wei X, Zheng Y, Wu D, et al. Genome-wide analyses identify KLF4 as an important negative regulator in T-cell acute lymphoblastic leukemia through directly inhibiting T-cell associated genes. Mol Cancer. 2015;14:26 pubmed publisher
    ..We found that KLF4 overexpression inhibited T cell-associated genes including NOTCH1, BCL11B, GATA3, and TCF7...
  19. Huang H, Chen S, Pan L, Yao J, Ma H. Loss of function of SWI/SNF chromatin remodeling genes leads to genome instability of human lung cancer. Oncol Rep. 2015;33:283-91 pubmed publisher
    ..Specifically, the mutant-typing of 6 BAF genes, SMARCA4, ARID2, ARID1B, BCL11A, BCL11B and BRD9 was associated with more overall mutations in the lung carcinoma samples...
  20. McCoach C, Le A, Gowan K, Jones K, Schubert L, Doak A, et al. Resistance Mechanisms to Targeted Therapies in ROS1+ and ALK+ Non-small Cell Lung Cancer. Clin Cancer Res. 2018;24:3334-3347 pubmed publisher
    ..gene fusion, a RET fusion, 2 EGFR, and 3 KRAS mutations, as well as mutations in IDH1, RIT1, NOTCH, and NF1 In addition, we identified CNV in multiple proto-oncogenes genes including PDGFRA, ..
  21. Distasio A, Driver A, Sund K, Donlin M, Muraleedharan R, Pooya S, et al. Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. Hum Mol Genet. 2017;26:4836-4848 pubmed publisher
    ..Immunostaining of the Copb2R254C/Zfnbrain revealed a reduction in layer V (CTIP2+) neurons, while the overall cell density of the cortex is unchanged...
  22. Mohanta S, Sekhar Khora S, Suresh A. Cancer Stem Cell based molecular predictors of tumor recurrence in Oral squamous cell carcinoma. Arch Oral Biol. 2019;99:92-106 pubmed publisher
    ..05 or fold change >2) associated with disease recurrence, 8 genes (NQO1, UBE2C, EDNRB, FKBP4, STAT3, HOXA1, RIT1, AURKA) being significant with high fold change...
  23. Fazel Darbandi S, Poitras L, Monis S, Lindtner S, Yu M, Hatch G, et al. Functional consequences of I56ii Dlx enhancer deletion in the developing mouse forebrain. Dev Biol. 2016;: pubmed publisher
    ..Deletion of I56ii reduces the expression of the ISLET1 and CTIP2 in the striatum and disrupts the number of parvalbumin and calretinin expressing cells in the adult somatosensory ..
  24. Zhou H, Fang Y, Weinberger P, Ding L, Cowell J, Hudson F, et al. Transgelin increases metastatic potential of colorectal cancer cells in vivo and alters expression of genes involved in cell motility. BMC Cancer. 2016;16:55 pubmed publisher
    ..Changes included increases in HOOK1, SDCCAG8, ENAH/Mena, and TNS1 and decreases in EMB, BCL11B, and PTPRD...
  25. Kassis H, Shehadah A, Chopp M, Roberts C, Zhang Z. Stroke Induces Nuclear Shuttling of Histone Deacetylase 4. Stroke. 2015;46:1909-15 pubmed publisher
    ..Neurons with nuclear HDAC4 immunoreactivity distributed across all layers of the peri-infarct cortex and were Ctip2+ excitatory and parvalbumin+ inhibitory neurons. These neurons were not TUNEL or BrdU positive...
  26. Arber C, Precious S, Cambray S, Risner Janiczek J, Kelly C, Noakes Z, et al. Activin A directs striatal projection neuron differentiation of human pluripotent stem cells. Development. 2015;142:1375-86 pubmed publisher
    ..of striatal phenotype was further demonstrated by the induction of the striatal transcription factors CTIP2, GSX2 and FOXP2...
  27. Faedo A, Laporta A, Segnali A, Galimberti M, Besusso D, Cesana E, et al. Differentiation of human telencephalic progenitor cells into MSNs by inducible expression of Gsx2 and Ebf1. Proc Natl Acad Sci U S A. 2017;114:E1234-E1242 pubmed publisher
    ..found that Gsx2 and Ebf1 combined overexpression in hES cells achieves high yields of MSNs, expressing Darpp32 and Ctip2, in vitro as well in vivo after transplantation...
  28. Zhang L, Ma S, Wang H, Su H, Su K, Li L. Identification of pathogenic genes related to rheumatoid arthritis through integrated analysis of DNA methylation and gene expression profiling. Gene. 2017;634:62-67 pubmed publisher
    ..b>BCL11B, CCDC88C, FCRLA and APOL6 were both up-regulated and hypomethylated in RA according to integrated analysis, RT-PCR ..
  29. Tantirigama M, Oswald M, Clare A, Wicky H, Day R, Hughes S, et al. Fezf2 expression in layer 5 projection neurons of mature mouse motor cortex. J Comp Neurol. 2016;524:829-45 pubmed publisher
    ..The two Fezf2(+) subtypes expressed either CTIP2 or SATB2 to distinguish their physiological identity and confirmed that specific expression combinations of key ..
  30. Motono M, Ioroi Y, Ogura T, Takahashi J. WNT-C59, a Small-Molecule WNT Inhibitor, Efficiently Induces Anterior Cortex That Includes Cortical Motor Neurons From Human Pluripotent Stem Cells. Stem Cells Transl Med. 2016;5:552-60 pubmed publisher
    ..C59 efficiently induced CTIP2+/COUP-TF1- cells, which are characteristic of the cells found in the anterior cortex...
  31. Rothenberg E, Ungerbäck J, Champhekar A. Forging T-Lymphocyte Identity: Intersecting Networks of Transcriptional Control. Adv Immunol. 2016;129:109-74 pubmed publisher
    ..1 and GATA-3, PU.1-Notch competition, the relationship between PU.1 and GATA-3, and the roles of E proteins, Bcl11b, and GATA-3 in guiding acquisition of T-cell identity while avoiding redirection to an ILC fate.
  32. Teoh J, Iwano T, Kunii M, Atik N, Avriyanti E, Yoshimura S, et al. BIG1 is required for the survival of deep layer neurons, neuronal polarity, and the formation of axonal tracts between the thalamus and neocortex in developing brain. PLoS ONE. 2017;12:e0175888 pubmed publisher
    ..However, Tbr1+ and Ctip2+ deep layer (DL) neurons showed spatial-temporal dependent apoptosis...
  33. Zhao C, Li X, Han B, You Z, Qu L, Liu C, et al. Gga-miR-219b targeting BCL11B suppresses proliferation, migration and invasion of Marek's disease tumor cell MSB1. Sci Rep. 2017;7:4247 pubmed publisher
    ..in MDV-induced lymphoma, and one of its potential target genes, B-cell chronic lymphocytic /lymphoma 11B (BCL11B) was predicted...
  34. Leung G, Luk H, Tang V, Gao W, Mak C, Yu M, et al. Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies. Sci Rep. 2018;8:2421 pubmed publisher
    ..Four VUSs were identified in five patients. The functional assessment supported the pathogenicity of the RAF1 and RIT1 VUSs, while the significance of two VUSs in A2ML1 remained unclear...
  35. Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, et al. Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. Hum Genet. 2016;135:209-22 pubmed publisher
    ..We have recently identified mutations in RIT1 in patients with NS...
  36. Mondoon S, Shibata K, Yoshikai Y. In vivo blockade of T cell development reveals alternative pathways for generation of intraepithelial lymphocytes in mice. Immunol Lett. 2017;191:40-46 pubmed publisher
    ..To gain insight into the mechanisms, we generated mice (Bcl11bΔDN2 mice) that lack thymic precursors (DN CD5+ TCRβ+ cells) for CD4-
  37. Kostrzewski T, Brady H. ILC Lineage Specification: To Be or Not 11b, That Is the Question. Immunity. 2015;43:220-2 pubmed publisher
    The transcription factor Bcl11b is important for T cell development and maintaining their phenotype. In this issue of Immunity, Califano et al...
  38. Cánovas J, Berndt F, Sepúlveda H, Aguilar R, Veloso F, Montecino M, et al. The Specification of Cortical Subcerebral Projection Neurons Depends on the Direct Repression of TBR1 by CTIP1/BCL11a. J Neurosci. 2015;35:7552-64 pubmed publisher
    ..neocortex depends on the high levels of expression of the transcription factor CTIP1; CTIP1 is coexpressed with CTIP2 in neurons that project to subcerebral targets and with SATB2 in those that project to the contralateral cortex...
  39. Fang Z, Marshall C, Yin J, Mazhab Jafari M, Gasmi Seabrook G, Smith M, et al. Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1). J Biol Chem. 2016;291:15641-52 pubmed publisher
    RAS-like protein expressed in many tissues 1 (RIT1) is a disease-associated RAS subfamily small guanosine triphosphatase (GTPase)...
  40. Custer S, Gilson T, Li H, Todd A, Astroski J, Lin H, et al. Altered mRNA Splicing in SMN-Depleted Motor Neuron-Like Cells. PLoS ONE. 2016;11:e0163954 pubmed publisher
    ..SMN-dependent splicing changes, including an intron retention event that results in the production of a truncated Rit1 transcript. This intron-retained transcript is stable and is mis-spliced in spinal cord from symptomatic SMA mice...
  41. Mir S, Cai W, Andres D. RIT1 GTPase Regulates Sox2 Transcriptional Activity and Hippocampal Neurogenesis. J Biol Chem. 2017;292:2054-2064 pubmed publisher
    ..Here we report that the Ras-related GTPase RIT1 serves to control the sequential proliferation and differentiation of adult hippocampal neural progenitor cells, ..
  42. Galazo M, Emsley J, Macklis J. Corticothalamic Projection Neuron Development beyond Subtype Specification: Fog2 and Intersectional Controls Regulate Intraclass Neuronal Diversity. Neuron. 2016;91:90-106 pubmed publisher
    ..CThPN molecular differentiation, axonal targeting, and diversity, in part by regulating the expression level of Ctip2 by CThPN, via combinatorial interactions with other molecular controls...
  43. Lin L, Yuan J, Sander B, Golas M. In Vitro Differentiation of Human Neural Progenitor Cells Into Striatal GABAergic Neurons. Stem Cells Transl Med. 2015;4:775-88 pubmed publisher
    ..with our protocols displayed significantly increased expression of MAP2, CALB1, DARPP-32/PPP1R1B, ARPP21, and CTIP2. Application of glutamate receptor agonists induced calcium influx; accordingly, the cells also expressed various ..
  44. Blyth B, Kakinuma S, Sunaoshi M, Amasaki Y, Hirano Sakairi S, Ogawa K, et al. Genetic Analysis of T Cell Lymphomas in Carbon Ion-Irradiated Mice Reveals Frequent Interstitial Chromosome Deletions: Implications for Second Cancer Induction in Normal Tissues during Carbon Ion Radiotherapy. PLoS ONE. 2015;10:e0130666 pubmed publisher
    ..involved in radiation-induced lymphomagenesis and subsequent detailed analysis of Notch1, Ikzf1, Pten, Trp53 and Bcl11b genes, we compared the genetic profile of the carbon ion- and gamma ray-induced tumours...
  45. Zuiki M, Chiyonobu T, Yoshida M, Maeda H, Yamashita S, Kidowaki S, et al. Luteolin attenuates interleukin-6-mediated astrogliosis in human iPSC-derived neural aggregates: A candidate preventive substance for maternal immune activation-induced abnormalities. Neurosci Lett. 2017;653:296-301 pubmed publisher
    ..of astrocytes (GFAP-positive area ratio) and decreased the area ratio of early-born neurons (TBR1-positive or CTIP2-positive area ratio) relative to controls...
  46. Bartram I, Gökbuget N, Schlee C, Heesch S, Fransecky L, Schwartz S, et al. Low expression of T-cell transcription factor BCL11b predicts inferior survival in adult standard risk T-cell acute lymphoblastic leukemia patients. J Hematol Oncol. 2014;7:51 pubmed publisher
    ..We studied the impact of B-cell CLL/lymphoma 11b (BCL11b), a key regulator in normal T-cell development, in T-ALL patients enrolled into the German Multicenter Acute ..
  47. Milosavljević D, Overwater E, Tamminga S, de Boer K, Elting M, van Hoorn M, et al. Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature. Am J Med Genet A. 2016;170:1874-80 pubmed publisher
    Mutations in RIT1, involved in the RAS-MAPK pathway, have recently been identified as a cause for Noonan syndrome...
  48. Ganguli Indra G, Liang X, Hyter S, Leid M, Hanifin J, INDRA A. Expression of COUP-TF-interacting protein 2 (CTIP2) in human atopic dermatitis and allergic contact dermatitis skin. Exp Dermatol. 2009;18:994-6 pubmed publisher
    Chicken ovalbumin upstream promoter-transcription factor-interacting protein 2 (CTIP2) is a transcriptional regulator that is highly expressed in skin during mouse development, as well as in proliferating cells of adult mouse skin...
  49. Inoue J, Ihara Y, Tsukamoto D, Yasumoto K, Hashidume T, Kamimura K, et al. BCL11B gene heterozygosity causes weight loss accompanied by increased energy consumption, but not defective adipogenesis, in mice. Biosci Biotechnol Biochem. 2017;81:922-930 pubmed publisher
    b>BCL11B is a zinc finger-type transcription factor that regulates the development of the white adipose tissue (WAT), skin, central nervous system, and immune system...
  50. Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez Gonzalez V, et al. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genet Med. 2016;18:1226-1234 pubmed publisher
    ..b>RIT1 was recently reported as a disease gene for NS, but the number of published cases is still limited...
  51. Mir S, Cai W, Carlson S, Saatman K, Andres D. IGF-1 mediated Neurogenesis Involves a Novel RIT1/Akt/Sox2 Cascade. Sci Rep. 2017;7:3283 pubmed publisher
    ..Here, we demonstrate that the Ras-related GTPase, RIT1, plays a critical role in IGF-1-dependent neurogenesis...
  52. Yeung S, Tong J, Law P, Chung L, Lung R, Tong C, et al. Profiling of Oncogenic Driver Events in Lung Adenocarcinoma Revealed MET Mutation as Independent Prognostic Factor. J Thorac Oncol. 2015;10:1292-1300 pubmed publisher
    ..154 lung adenocarcinomas and adenosquamous carcinomas for EGFR, KRAS, HER2, BRAF, PIK3CA, MET, NRAS, MAP2K1, and RIT1 mutations by polymerase chain reaction-direct sequencing...
  53. Thapa P, Manso B, Chung J, Romera Arocha S, Xue H, Angelo D, et al. The differentiation of ROR-γt expressing iNKT17 cells is orchestrated by Runx1. Sci Rep. 2017;7:7018 pubmed publisher
    ..for iNKT17 differentiation, including decreased expression of IL-7Rα, BATF and c-Maf and increased expression of Bcl11b and Lef1...
  54. Longabaugh W, Zeng W, Zhang J, Hosokawa H, Jansen C, Li L, et al. Bcl11b and combinatorial resolution of cell fate in the T-cell gene regulatory network. Proc Natl Acad Sci U S A. 2017;114:5800-5807 pubmed publisher
    ..However, the role of lineage commitment factor Bcl11b has been unclear...
  55. Grabarczyk P, Winkler P, Delin M, Sappa P, Bekeschus S, Hildebrandt P, et al. The N-Terminal CCHC Zinc Finger Motif Mediates Homodimerization of Transcription Factor BCL11B. Mol Cell Biol. 2018;38: pubmed publisher
    The BCL11B gene encodes a Krüppel-like, sequence-specific zinc finger (ZF) transcription factor that acts as either a repressor or an activator, depending on its posttranslational modifications...
  56. Cherrier T, Le Douce V, Eilebrecht S, Riclet R, Marban C, Dequiedt F, et al. CTIP2 is a negative regulator of P-TEFb. Proc Natl Acad Sci U S A. 2013;110:12655-60 pubmed publisher
    ..We report that the transcriptional repressor CTIP2 is a major modulator of P-TEFb activity...
  57. Permatasari H, Nakahata S, Ichikawa T, Morishita K. BCL11B is frequently downregulated in HTLV-1-infected T-cells through Tax-mediated proteasomal degradation. Biochem Biophys Res Commun. 2017;490:1086-1092 pubmed publisher
    ..and post-transcriptionally downregulates the expression of the tumor suppressor gene B-cell leukemia/lymphoma 11B (BCL11B), which encodes a lymphoid-related transcription factor...
  58. Sigl Glöckner J, Brecht M. Polyploidy and the Cellular and Areal Diversity of Rat Cortical Layer 5 Pyramidal Neurons. Cell Rep. 2017;20:2575-2583 pubmed publisher
    ..and integrated fluorescence are ?2-fold higher for some excitatory neurons in layer 5, suggesting that large Ctip2-negative and Ctip2-positive layer 5 neurons might be tetraploid...
  59. Cismasiu V, Paskaleva E, Suman Daya S, Canki M, Duus K, Avram D. BCL11B is a general transcriptional repressor of the HIV-1 long terminal repeat in T lymphocytes through recruitment of the NuRD complex. Virology. 2008;380:173-81 pubmed publisher
    In this study we provide evidence that the transcription factor BCL11B represses expression from the HIV-1 long terminal repeat (LTR) in T lymphocytes through direct association with the HIV-1 LTR...
  60. Dulcis D, Lippi G, Stark C, Do L, Berg D, Spitzer N. Neurotransmitter Switching Regulated by miRNAs Controls Changes in Social Preference. Neuron. 2017;95:1319-1333.e5 pubmed publisher
    ..Inhibition of miR-375 and miR-200b reveals that they target Pax6 and Bcl11b to regulate the dopaminergic and GABAergic phenotypes...
  61. Wiles E, Lui Sargent B, Bell R, Lessnick S. BCL11B is up-regulated by EWS/FLI and contributes to the transformed phenotype in Ewing sarcoma. PLoS ONE. 2013;8:e59369 pubmed publisher
    ..Here we characterize BCL11B as an up-regulated EWS/FLI target that is necessary for the maintenance of transformation in patient derived Ewing ..
  62. Mishra A, Yazar S, Hewitt A, Mountain J, Ang W, Pennell C, et al. Genetic variants near PDGFRA are associated with corneal curvature in Australians. Invest Ophthalmol Vis Sci. 2012;53:7131-6 pubmed publisher
    ..Results of initial genomewide association studies (GWAS) for CC in Australians were also reported...
  63. Ha V, Luong A, Li F, Casero D, Malvar J, Kim Y, et al. The T-ALL related gene BCL11B regulates the initial stages of human T-cell differentiation. Leukemia. 2017;31:2503-2514 pubmed publisher
    ..Through loss of function studies, we showed BCL11B, a transcription factor recurrently mutated T-ALL, is essential for T-lineage commitment, particularly the ..
  64. Kurosawa N, Fujimoto R, Ozawa T, Itoyama T, Sadamori N, Isobe M. Reduced level of the BCL11B protein is associated with adult T-cell leukemia/lymphoma. PLoS ONE. 2013;8:e55147 pubmed publisher
    ..case with the translocations t(14;17)(q32;q22-23) resulted in the identification of a Kruppel zinc finger gene, BCL11B, which plays a crucial role in T-cell development...
  65. Takachi T, Takahashi M, Takahashi Yoshita M, Higuchi M, Obata M, Mishima Y, et al. Human T-cell leukemia virus type 1 Tax oncoprotein represses the expression of the BCL11B tumor suppressor in T-cells. Cancer Sci. 2015;106:461-5 pubmed publisher
    ..Recent studies show that HTLV-1-infected T-cells have reduced expression of the BCL11B tumor suppressor protein...
  66. Kueh H, Yui M, Ng K, Pease S, Zhang J, Damle S, et al. Asynchronous combinatorial action of four regulatory factors activates Bcl11b for T cell commitment. Nat Immunol. 2016;17:956-65 pubmed publisher
    ..multipotent progenitors relinquish competence for other fates and commit to the T cell lineage by turning on Bcl11b, which encodes a transcription factor...
  67. Fu W, Yi S, Qiu L, Sun J, Tu P, Wang Y. BCL11B-Mediated Epigenetic Repression Is a Crucial Target for Histone Deacetylase Inhibitors in Cutaneous T-Cell Lymphoma. J Invest Dermatol. 2017;137:1523-1532 pubmed publisher
    ..However, the response rate is relatively low and unpredictable. Previously, we discovered that BCL11B, a key T-cell development regulator, was aberrantly overexpressed in mycosis fungoides, the most common CTCL, as ..
  68. Cavé H, Caye A, Ghedira N, Capri Y, Pouvreau N, Fillot N, et al. Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. Eur J Hum Genet. 2016;24:1124-31 pubmed publisher
    ..Recently, RIT1 (Ras-like without CAAX 1) has been shown to be involved in the pathogenesis of some patients...
  69. Karami J, Mahmoudi M, Amirzargar A, Gharshasbi M, Jamshidi A, Aslani S, et al. Promoter hypermethylation of BCL11B gene correlates with downregulation of gene transcription in ankylosing spondylitis patients. Genes Immun. 2017;18:170-175 pubmed publisher
    ..B-cell chronic lymphocytic leukemia/lymphoma 11B (BCL11B) plays a key role in the development, proliferation, differentiation, and survival of T cells...
  70. Wang Z, Kirkwood J, Taylor A, Stevens J, Leid M, Ganguli Indra G, et al. Transcription factor Ctip2 controls epidermal lipid metabolism and regulates expression of genes involved in sphingolipid biosynthesis during skin development. J Invest Dermatol. 2013;133:668-676 pubmed publisher
    ..We have discovered that mice lacking transcription factor COUP-TF-interacting protein 2 (Ctip2) exhibit EPB defects including altered keratinocyte terminal differentiation, delayed skin barrier development, ..
  71. Grabarczyk P, Nähse V, Delin M, Przybylski G, Depke M, Hildebrandt P, et al. Increased expression of bcl11b leads to chemoresistance accompanied by G1 accumulation. PLoS ONE. 2010;5: pubmed publisher
    The expression of BCL11B was reported in T-cells, neurons and keratinocytes. Aberrations of BCL11B locus leading to abnormal gene transcription were identified in human hematological disorders and corresponding animal models...
  72. Ye Z, Vasco D, Carter T, Brilliant M, Schrodi S, Shukla S. Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections. Front Genet. 2014;5:125 pubmed publisher
    ..The nearby genes were PDE4B (rs2455012), TXNRD2 (rs3804047), VRK1 and BCL11B (rs7152530), and PNPLA5 (rs470093). The top two findings from the gene-based analysis were NMRK2 (p gene = 1...
  73. Jin P, Chen H, Xie J, Zhou C, Zhu X. Essential role of microRNA-650 in the regulation of B-cell CLL/lymphoma 11B gene expression following transplantation: A novel mechanism behind the acute rejection of renal allografts. Int J Mol Med. 2017;40:1840-1850 pubmed publisher
    ..increased level of miR-650 was identified to be associated with the downregulation of B-cell CLL/lymphoma 11B (BCL11B) expression in acute renal allograft rejection...
  74. Sakamaki A, Katsuragi Y, Otsuka K, Tomita M, Obata M, Iwasaki T, et al. Bcl11b SWI/SNF-complex subunit modulates intestinal adenoma and regeneration after γ-irradiation through Wnt/β-catenin pathway. Carcinogenesis. 2015;36:622-31 pubmed publisher
    ..b>Bcl11b is a SWI/SNF subunit and acts as a haploinsufficient tumor suppressor in leukemia/lymphomas...
  75. Hatano S, Murakami T, Noguchi N, Yamada H, Yoshikai Y. CD5-NK1.1+ ?? T Cells that Develop in a Bcl11b-Independent Manner Participate in Early Protection against Infection. Cell Rep. 2017;21:1191-1202 pubmed publisher
    ..DN2a stage of the fetal thymus independently of the zinc-finger transcription factor B cell leukemia/lymphoma 11b (Bcl11b). Herein, we characterize these Bcl11b-independent ?? T cells in the periphery as CD5-NK1...
  76. Ip B, Bayatti N, Howard N, Lindsay S, Clowry G. The corticofugal neuron-associated genes ROBO1, SRGAP1, and CTIP2 exhibit an anterior to posterior gradient of expression in early fetal human neocortex development. Cereb Cortex. 2011;21:1395-407 pubmed publisher
    ..polymerase chain reaction, in situ hybridization and immunohistochemistry that 3 such genes, ROBO1, SRGAP1, and CTIP2 are highly expressed anteriorly between 8-12 PCW, in comparison with other genes (FEZF2, SOX5) expressed by Layer ..
  77. Van Lint C, Bouchat S, Marcello A. HIV-1 transcription and latency: an update. Retrovirology. 2013;10:67 pubmed publisher
  78. Huang X, Chen S, Shen Q, Yang L, Li B, Zhong L, et al. Analysis of the expression pattern of the BCL11B gene and its relatives in patients with T-cell acute lymphoblastic leukemia. J Hematol Oncol. 2010;3:44 pubmed publisher
    In a human T-cell acute lymphoblastic leukemia (T-ALL) cell line (Molt-4), siRNA-mediated suppression of BCL11B expression was shown to inhibit proliferation and induce apoptosis, functions which may be related to genes involved in ..
  79. Matsumoto Y, Nagoshi H, Yoshida M, Kato S, Kuroda J, Shimura K, et al. Expression of Master Regulators of T-cell, Helper T-cell and Follicular Helper T-cell Differentiation in Angioimmunoblastic T-cell Lymphoma. Intern Med. 2017;56:2851-2856 pubmed publisher
    ..The master regulators associated with T-cell, helper T-cell (Th), and TFH differentiation are reportedly BCL11B, Th-POK, and BCL6, respectively...
  80. Kojo S, Tanaka H, Endo T, Muroi S, Liu Y, Seo W, et al. Priming of lineage-specifying genes by Bcl11b is required for lineage choice in post-selection thymocytes. Nat Commun. 2017;8:702 pubmed publisher
    ..Here we show that Bcl11b, known as a T-lineage commitment factor, is essential for proper expression of ThPOK and Runx3, central regulators ..
  81. Gu X, Wang Y, Zhang G, Li W, Tu P. Aberrant expression of BCL11B in mycosis fungoides and its potential role in interferon-induced apoptosis. J Dermatol. 2013;40:596-605 pubmed publisher
    b>BCL11B is a Kruppel-like C2H2-type zinc finger transcription factor, which has been associated with several human malignancies...
  82. Victoriano A, Okamoto T. Transcriptional control of HIV replication by multiple modulators and their implication for a novel antiviral therapy. AIDS Res Hum Retroviruses. 2012;28:125-38 pubmed publisher
    ..We include recent findings on chromatin remodeling toward HIV transcription and its therapeutic implication is also discussed. The current status of small-molecular-weight compounds that affect HIV transcription is also described. ..
  83. Liu X, Ding W, Han L, Liu X, Xiao Y, Yang J, et al. [Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy]. Zhonghua Er Ke Za Zhi. 2017;55:780-784 pubmed publisher
    ..b>Result: Three mutant genes (PTPN11 gene in chromosome 12, RIT1 gene in chromosome 1 and RAF1 gene in chromosome 3) in five cases all had been reported to be related to ..
  84. Chinen J, Badran Y, Geha R, Chou J, Fried A. Advances in basic and clinical immunology in 2016. J Allergy Clin Immunol. 2017;140:959-973 pubmed publisher
    ..to be associated with immunodeficiency, such as linker of activation of T cells (LAT); B-cell CLL/lymphoma 11B (BCL11B); RGD, leucine-rich repeat, tropomodulin domain, and proline-rich domain-containing protein (RLTPR); moesin; and ..
  85. Rokutan H, Hosoda F, Hama N, Nakamura H, Totoki Y, Furukawa E, et al. Comprehensive mutation profiling of mucinous gastric carcinoma. J Pathol. 2016;240:137-48 pubmed publisher
    ..In U-MGCs, the MLH1 expression status and combined mutation status (TP53/BCL11B or TP53/MLL2) were prognostic factors...
  86. Nagel S, Scherr M, Kel A, Hornischer K, Crawford G, Kaufmann M, et al. Activation of TLX3 and NKX2-5 in t(5;14)(q35;q32) T-cell acute lymphoblastic leukemia by remote 3'-BCL11B enhancers and coregulation by PU.1 and HMGA1. Cancer Res. 2007;67:1461-71 pubmed
    ..2 breakpoints dispersed across the BCL11B downstream genomic desert...
  87. Cai S, Kalisky T, Sahoo D, Dalerba P, Feng W, Lin Y, et al. A Quiescent Bcl11b High Stem Cell Population Is Required for Maintenance of the Mammary Gland. Cell Stem Cell. 2017;20:247-260.e5 pubmed publisher
    ..Here, we identify a quiescent mammary epithelial cell population expressing high levels of Bcl11b and located at the interface between luminal and basal cells...
  88. Avram D, Califano D. The multifaceted roles of Bcl11b in thymic and peripheral T cells: impact on immune diseases. J Immunol. 2014;193:2059-65 pubmed publisher
    The transcription factor Bcl11b is expressed in all T cell subsets and progenitors, starting from the DN2 stage of T cell development, and it regulates critical processes implicated in the development, function, and survival of many of ..
  89. Liao C, Fang K, Chai K, Wu C, Ho C, Yang C, et al. Depletion of B cell CLL/Lymphoma 11B Gene Expression Represses Glioma Cell Growth. Mol Neurobiol. 2016;53:3528-3539 pubmed publisher
    B cell CLL/lymphoma 11B (Bcl11b), a C2H2 zinc finger transcription factor, not only serves as a critical regulator in development but also plays the controversial role in T cell acute lymphoblastic leukemia (T-ALL)...