BCL11A: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''B-cell lymphoma/leukemia 11A''' is a [[protein]] that in humans is encoded by the ''BCL11A'' [[gene]].<ref name="pmid11719382">{{cite journal | vauthors = 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 | title = The BCL11 gene family: involvement of BCL11A in lymphoid malignancies | journal = Blood | volume = 98 | issue = 12 | pages = 3413–20  | date = November 2001 | pmid = 11719382 | pmc =  | doi = 10.1182/blood.V98.12.3413 }}</ref><ref name="pmid18245381">{{cite journal | vauthors = Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A | title = Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 105 | issue = 5 | pages = 1620–5  | date = February 2008 | pmid = 18245381 | pmc = 2234194 | doi = 10.1073/pnas.0711566105 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=53335| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = B-cell CLL/lymphoma 11A (zinc finger protein)
| HGNCid = 13221
| Symbol = BCL11A
| AltSymbols =; BCL11A-L; BCL11A-S; BCL11A-XL; CTIP1; EVI9; FLJ10173; FLJ34997; KIAA1809
| OMIM = 606557
| ECnumber = 
| Homologene = 11284
| MGIid = 106190
| GeneAtlas_image1 = PBB_GE_BCL11A_219497_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_BCL11A_219498_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_BCL11A_210347_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003676 |text = nucleic acid binding}} {{GNF_GO|id=GO:0003714 |text = transcription corepressor activity}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0030097 |text = hemopoiesis}} {{GNF_GO|id=GO:0030183 |text = B cell differentiation}} {{GNF_GO|id=GO:0030217 |text = T cell differentiation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 53335
    | Hs_Ensembl = ENSG00000119866
    | Hs_RefseqProtein = NP_060484
    | Hs_RefseqmRNA = NM_018014
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 60531806
    | Hs_GenLoc_end = 60634121
    | Hs_Uniprot = Q9H165
    | Mm_EntrezGene = 14025
    | Mm_Ensembl = ENSMUSG00000000861
    | Mm_RefseqmRNA = NM_016707
    | Mm_RefseqProtein = NP_057916
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 11
    | Mm_GenLoc_start = 23978117
    | Mm_GenLoc_end = 24073194
    | Mm_Uniprot = Q3US10
  }}
}}
'''B-cell CLL/lymphoma 11A (zinc finger protein)''', also known as '''BCL11A''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=53335| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding 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. Five alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been reported.<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding 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. Five alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been reported.<ref name="entrez">{{cite web | title = Entrez Gene: BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=53335| accessdate = }}</ref>
}}


==References==
In addition to the functions described above, BCL11A has been found to play a role in the suppression of fetal hemoglobin production. Therapeutic strategies aimed at increasing fetal globin production in diseases such as beta thalassemia and sickle cell anemia by inhibiting BCL11A are currently being explored.
{{reflist|2}}
 
==Further reading==
== Interactions ==
 
BCL11A has been shown to [[Protein-protein interaction|interact]] with [[COUP-TFI]].<ref name="pmid10744719">{{cite journal | vauthors = Avram D, Fields A, Pretty On Top K, Nevrivy DJ, Ishmael JE, Leid M | title = 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 | journal = J. Biol. Chem. | volume = 275 | issue = 14 | pages = 10315–22 | year = 2000 | pmid = 10744719 | pmc = 2819356 | doi = 10.1074/jbc.275.14.10315 }}</ref>
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = | title = Toward a complete human genome sequence | journal = Genome Res. | volume = 8 | issue = 11 | pages = 1097–108 | year = 1998 | pmid = 9847074 | doi = 10.1101/gr.8.11.1097 }}
| citations =
* {{cite journal | vauthors = Avram D, Fields A, Pretty On Top K, Nevrivy DJ, Ishmael JE, Leid M | title = 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 | journal = J. Biol. Chem. | volume = 275 | issue = 14 | pages = 10315–22 | year = 2000 | pmid = 10744719 | pmc = 2819356 | doi = 10.1074/jbc.275.14.10315 }}
*{{cite journal | author= |title=Toward a complete human genome sequence. |journal=Genome Res. |volume=8 |issue= 11 |pages= 1097-108 |year= 1999 |pmid= 9847074 |doi= }}
* {{cite journal | vauthors = Nakamura T, Yamazaki Y, Saiki Y, Moriyama M, Largaespada DA, Jenkins NA, Copeland NG | title = Evi9 encodes a novel zinc finger protein that physically interacts with BCL6, a known human B-cell proto-oncogene product | journal = Mol. Cell. Biol. | volume = 20 | issue = 9 | pages = 3178–86 | year = 2000 | pmid = 10757802 | pmc = 85612 | doi = 10.1128/MCB.20.9.3178-3186.2000 }}
*{{cite journal | author=Avram D, Fields A, Pretty On Top K, ''et al.'' |title=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. |journal=J. Biol. Chem. |volume=275 |issue= 14 |pages= 10315-22 |year= 2000 |pmid= 10744719 |doi= }}
* {{cite journal | vauthors = Saiki Y, Yamazaki Y, Yoshida M, Katoh O, Nakamura T | title = 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 | journal = Genomics | volume = 70 | issue = 3 | pages = 387–91 | year = 2000 | pmid = 11161790 | doi = 10.1006/geno.2000.6385 }}
*{{cite journal | author=Nakamura T, Yamazaki Y, Saiki Y, ''et al.'' |title=Evi9 encodes a novel zinc finger protein that physically interacts with BCL6, a known human B-cell proto-oncogene product. |journal=Mol. Cell. Biol. |volume=20 |issue= 9 |pages= 3178-86 |year= 2000 |pmid= 10757802 |doi= }}
* {{cite journal | vauthors = Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O | title = 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 | journal = DNA Res. | volume = 8 | issue = 2 | pages = 85–95 | year = 2001 | pmid = 11347906 | doi = 10.1093/dnares/8.2.85 }}
*{{cite journal | author=Saiki Y, Yamazaki Y, Yoshida M, ''et al.'' |title=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. |journal=Genomics |volume=70 |issue= 3 |pages= 387-91 |year= 2001 |pmid= 11161790 |doi= 10.1006/geno.2000.6385 }}
* {{cite journal | vauthors = 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 | title = Recurrent involvement of the REL and BCL11A loci in classical Hodgkin lymphoma | journal = Blood | volume = 99 | issue = 4 | pages = 1474–7 | year = 2002 | pmid = 11830502 | doi = 10.1182/blood.V99.4.1474 }}
*{{cite journal | author=Nagase T, Nakayama M, Nakajima D, ''et al.'' |title=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. |journal=DNA Res. |volume=8 |issue= 2 |pages= 85-95 |year= 2001 |pmid= 11347906 |doi= }}
* {{cite journal | vauthors = Küppers R, Sonoki T, Satterwhite E, Gesk S, Harder L, Oscier DG, Tucker PW, Dyer MJ, Siebert R | title = Lack of somatic hypermutation of IG V(H) genes in lymphoid malignancies with t(2;14)(p13;q32) translocation involving the BCL11A gene | journal = Leukemia | volume = 16 | issue = 5 | pages = 937–9 | year = 2002 | pmid = 11986957 | doi = 10.1038/sj.leu.2402480 }}
*{{cite journal  | author=Satterwhite E, Sonoki T, Willis TG, ''et al.'' |title=The BCL11 gene family: involvement of BCL11A in lymphoid malignancies. |journal=Blood |volume=98 |issue= 12 |pages= 3413-20 |year= 2001 |pmid= 11719382 |doi=  }}
* {{cite journal | vauthors = Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA | title = Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 99 | issue = 26 | pages = 16899–903 | year = 2002 | pmid = 12477932 | pmc = 139241 | doi = 10.1073/pnas.242603899 }}
*{{cite journal | author=Martín-Subero JI, Gesk S, Harder L, ''et al.'' |title=Recurrent involvement of the REL and BCL11A loci in classical Hodgkin lymphoma. |journal=Blood |volume=99 |issue= 4 |pages= 1474-7 |year= 2002 |pmid= 11830502 |doi= }}
* {{cite journal | vauthors = Senawong T, Peterson VJ, Leid M | title = BCL11A-dependent recruitment of SIRT1 to a promoter template in mammalian cells results in histone deacetylation and transcriptional repression | journal = Arch. Biochem. Biophys. | volume = 434 | issue = 2 | pages = 316–25 | year = 2005 | pmid = 15639232 | pmc = 2819353 | doi = 10.1016/j.abb.2004.10.028 }}
*{{cite journal | author=Küppers R, Sonoki T, Satterwhite E, ''et al.'' |title=Lack of somatic hypermutation of IG V(H) genes in lymphoid malignancies with t(2;14)(p13;q32) translocation involving the BCL11A gene. |journal=Leukemia |volume=16 |issue= 5 |pages= 937-9 |year= 2002 |pmid= 11986957 |doi= 10.1038/sj.leu.2402480 }}
* {{cite journal | vauthors = 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 | title = 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 | journal = Mol. Cancer | volume = 5 | issue =  | pages = 18 | year = 2006 | pmid = 16704730 | pmc = 1526750 | doi = 10.1186/1476-4598-5-18 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Weniger MA, Pulford K, Gesk S, Ehrlich S, Banham AH, Lyne L, Martin-Subero JI, Siebert R, Dyer MJ, Möller P, Barth TF | title = Gains of the proto-oncogene BCL11A and nuclear accumulation of BCL11A(XL) protein are frequent in primary mediastinal B-cell lymphoma | journal = Leukemia | volume = 20 | issue = 10 | pages = 1880–2 | year = 2006 | pmid = 16871282 | doi = 10.1038/sj.leu.2404324 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
* {{cite journal | vauthors = Szafranski K, Schindler S, Taudien S, Hiller M, Huse K, Jahn N, Schreiber S, Backofen R, Platzer M | title = Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns | journal = Genome Biol. | volume = 8 | issue = 8 | pages = R154 | year = 2007 | pmid = 17672918 | pmc = 2374985 | doi = 10.1186/gb-2007-8-8-r154 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Senawong T, Peterson VJ, Leid M |title=BCL11A-dependent recruitment of SIRT1 to a promoter template in mammalian cells results in histone deacetylation and transcriptional repression. |journal=Arch. Biochem. Biophys. |volume=434 |issue= 2 |pages= 316-25 |year= 2005 |pmid= 15639232 |doi= 10.1016/j.abb.2004.10.028 }}
*{{cite journal | author=Liu H, Ippolito GC, Wall JK, ''et al.'' |title=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. |journal=Mol. Cancer |volume=5 |issue=  |pages= 18 |year= 2006 |pmid= 16704730 |doi= 10.1186/1476-4598-5-18 }}
*{{cite journal | author=Weniger MA, Pulford K, Gesk S, ''et al.'' |title=Gains of the proto-oncogene BCL11A and nuclear accumulation of BCL11A(XL) protein are frequent in primary mediastinal B-cell lymphoma. |journal=Leukemia |volume=20 |issue= 10 |pages= 1880-2 |year= 2006 |pmid= 16871282 |doi= 10.1038/sj.leu.2404324 }}
*{{cite journal | author=Szafranski K, Schindler S, Taudien S, ''et al.'' |title=Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns. |journal= |volume=8 |issue= 8 |pages= R154 |year= |pmid= 17672918 |doi= 10.1186/gb-2007-8-8-r154 }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
* {{MeshName|BCL11A+protein,+human}}
* {{MeshName|BCL11A+protein,+human}}
* {{FactorBook|BCL11A}}
* {{UCSC gene info|BCL11A}}


{{NLM content}}
{{Transcription factors|g2}}


{{protein-stub}}
{{NLM content}}
{{Transcription factors}}
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{WikiDoc Sources}}
 
 
{{gene-2-stub}}

Revision as of 02:31, 30 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

B-cell lymphoma/leukemia 11A is a protein that in humans is encoded by the BCL11A gene.[1][2][3]

Function

This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding 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. Five alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been reported.[3]

In addition to the functions described above, BCL11A has been found to play a role in the suppression of fetal hemoglobin production. Therapeutic strategies aimed at increasing fetal globin production in diseases such as beta thalassemia and sickle cell anemia by inhibiting BCL11A are currently being explored.

Interactions

BCL11A has been shown to interact with COUP-TFI.[4]

References

  1. ↑ 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 (November 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.
  2. ↑ Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A (February 2008). "Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia". Proc. Natl. Acad. Sci. U.S.A. 105 (5): 1620–5. doi:10.1073/pnas.0711566105. PMC 2234194. PMID 18245381.
  3. ↑ 3.0 3.1 "Entrez Gene: BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)".
  4. ↑ Avram D, Fields A, Pretty On Top K, Nevrivy DJ, Ishmael JE, Leid M (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". J. Biol. Chem. 275 (14): 10315–22. doi:10.1074/jbc.275.14.10315. PMC 2819356. PMID 10744719.

Further reading

External links

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


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