This gene belongs to the forkhead protein family of transcription factors which is characterized by a DNA-binding forkhead domain. FoxD3 functions as a transcriptional repressor and contains the C-terminal engrailed homology-1 motif (eh1), which provides an interactive surface with a transcriptional co-repressor Grg4 (Groucho-related gene-4).[6]
Stem Cellsedit
Multiple studies have suggested Foxd3 involvement in the transition from naive to primed pluripotent stem cells in embryo development. Previously, Foxd3 was demonstrated to be required in maintaining pluripotency in mouse embryonic stem cells.[7] A recent finding further showed that Foxd3 is necessary as a repressor in the transition from ESC to epiblast-like cells (EpiLC).[8] The study proposed that Foxd3 is associated with inactivation of important naive pluripotency genes by its modification of chromatin structures via recruiting histone demethylases and decreasing the number of activating factors. Another proposed mechanism on the other hand argued that Foxd3 begins nucleosome removal and induction to a "primed" pluripotent state by recruiting Brg1, a nucleosome remodeler, and then acts as a repressor of maximal activation of those enhancers by recruiting histone deacetylases, suggesting a complex mediating function in which enhancers are primed for some future controlled time-point rather than immediate expression.[9] While there is no ambiguity that Foxd3 plays an important role regulating the transition from naive to primed pluripotency state, the two models show a different process. Attempts to reconcile the conclusions of the two studies have further suggested that Foxd3 functions as all of the above.[10]
Neural Crest Cellsedit
FOXD3 plays an important role in the development and differentiation of neural crest cells.[11] Specifically, it is thought that FOXD3 plays an important role in controlling the developmental switch between Schwann Cell Progenitors and Melanocytes.[11]
^ abcGRCh38: Ensembl release 89: ENSG00000187140 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000067261 - 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.
^Hromas R, Moore J, Johnston T, Socha C, Klemsz M (June 1993). "Drosophila forkhead homologues are expressed in a lineage-restricted manner in human hematopoietic cells". Blood. 81 (11): 2854–2859. doi:10.1182/blood.V81.11.2854.2854. PMID 8499623.
^Yaklichkin S, Steiner AB, Lu Q, Kessler DS (January 2007). "FoxD3 and Grg4 physically interact to repress transcription and induce mesoderm in Xenopus". The Journal of Biological Chemistry. 282 (4): 2548–2557. doi:10.1074/jbc.M607412200. PMC1780074. PMID 17138566.
^Hanna LA, Foreman RK, Tarasenko IA, Kessler DS, Labosky PA (October 2002). "Requirement for Foxd3 in maintaining pluripotent cells of the early mouse embryo". Genes & Development. 16 (20): 2650–2661. doi:10.1101/gad.1020502. PMC187464. PMID 12381664.
^Respuela P, Nikolić M, Tan M, Frommolt P, Zhao Y, Wysocka J, Rada-Iglesias A (January 2016). "Foxd3 Promotes Exit from Naive Pluripotency through Enhancer Decommissioning and Inhibits Germline Specification". Cell Stem Cell. 18 (1): 118–133. doi:10.1016/j.stem.2015.09.010. PMC5048917. PMID 26748758.
^Krishnakumar R, Chen AF, Pantovich MG, Danial M, Parchem RJ, Labosky PA, Blelloch R (January 2016). "FOXD3 Regulates Pluripotent Stem Cell Potential by Simultaneously Initiating and Repressing Enhancer Activity". Cell Stem Cell. 18 (1): 104–117. doi:10.1016/j.stem.2015.10.003. PMC4775235. PMID 26748757.
^Plank-Bazinet JL, Mundell NA (2016). "The paradox of Foxd3: how does it function in pluripotency and differentiation of embryonic stem cells?". Stem Cell Investigation. 3: 73. doi:10.21037/sci.2016.09.20. PMC5104585. PMID 27868055.
^ abNitzan E, Pfaltzgraff ER, Labosky PA, Kalcheim C (July 2013). "Neural crest and Schwann cell progenitor-derived melanocytes are two spatially segregated populations similarly regulated by Foxd3". Proceedings of the National Academy of Sciences of the United States of America. 110 (31): 12709–12714. Bibcode:2013PNAS..11012709N. doi:10.1073/pnas.1306287110. PMC3732929. PMID 23858437.
^Alkhateeb A, Fain PR, Spritz RA (August 2005). "Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo". The Journal of Investigative Dermatology. 125 (2): 388–391. doi:10.1111/j.0022-202X.2005.23822.x. PMID 16098053.
Further readingedit
Guo Y, Costa R, Ramsey H, Starnes T, Vance G, Robertson K, et al. (March 2002). "The embryonic stem cell transcription factors Oct-4 and FoxD3 interact to regulate endodermal-specific promoter expression". Proceedings of the National Academy of Sciences of the United States of America. 99 (6): 3663–3667. Bibcode:2002PNAS...99.3663G. doi:10.1073/pnas.062041099. PMC122580. PMID 11891324.
Levy D, Larson MG, Benjamin EJ, Newton-Cheh C, Wang TJ, Hwang SJ, et al. (September 2007). "Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness". BMC Medical Genetics. 8 (Suppl 1): S3. doi:10.1186/1471-2350-8-S1-S3. PMC1995621. PMID 17903302.
Saleem RA, Banerjee-Basu S, Berry FB, Baxevanis AD, Walter MA (March 2001). "Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1". American Journal of Human Genetics. 68 (3): 627–641. doi:10.1086/318792. PMC1274476. PMID 11179011.
Buescher JL, Martinez LB, Sato S, Okuyama S, Ikezu T (March 2009). "YY1 and FoxD3 regulate antiretroviral zinc finger protein OTK18 promoter activation induced by HIV-1 infection". Journal of Neuroimmune Pharmacology. 4 (1): 103–115. doi:10.1007/s11481-008-9139-x. PMC2680142. PMID 19034670.
This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.
foxd3, forkhead, also, known, forkhead, protein, that, humans, encoded, gene, identifiersaliases, ais1, genesis, hfh2, vamas2, forkhead, d3external, idsomim, 611539, 1347473, homologene, 49239, genecards, gene, location, human, chromosome, human, band1p31, 3st. Forkhead box D3 also known as FOXD3 is a forkhead protein that in humans is encoded by the FOXD3 gene 5 FOXD3IdentifiersAliasesFOXD3 AIS1 Genesis HFH2 VAMAS2 forkhead box D3External IDsOMIM 611539 MGI 1347473 HomoloGene 49239 GeneCards FOXD3Gene location Human Chr Chromosome 1 human 1 Band1p31 3Start63 322 567 bp 1 End63 325 128 bp 1 Gene location Mouse Chr Chromosome 4 mouse 2 Band4 C6 4 45 71 cMStart99 544 536 bp 2 End99 546 859 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed insural nervespinal gangliatrigeminal gangliongastric mucosaseminal vesiculaleft coronary arterytransverse coloncanal of the cervixfundusvaginaTop expressed inneural crestspinal cordurethrauretersalivary glandspinal gangliaenteric nervous systemolfactory bulbvasculaturetongueMore reference expression dataBioGPSn aGene ontologyMolecular functionprotein binding DNA binding transcription repressor activity RNA polymerase II specific sequence specific DNA binding RNA polymerase II transcription regulatory region sequence specific DNA binding DNA binding transcription factor activity DNA binding DNA binding transcription factor activity RNA polymerase II specificCellular componentnucleoplasm nucleusBiological processnegative regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II regulation of transcription DNA templated multicellular organism development somatic stem cell population maintenance in utero embryonic development transcription DNA templated anatomical structure morphogenesis cell differentiation regulation of transcription by RNA polymerase IISources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez2702215221EnsemblENSG00000187140ENSMUSG00000067261UniProtQ9UJU5Q61060RefSeq mRNA NM 012183NM 010425RefSeq protein NP 036315NP 034555Location UCSC Chr 1 63 32 63 33 MbChr 4 99 54 99 55 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 1 1 Stem Cells 1 2 Neural Crest Cells 2 Clinical significance 3 References 4 Further readingFunction editThis gene belongs to the forkhead protein family of transcription factors which is characterized by a DNA binding forkhead domain FoxD3 functions as a transcriptional repressor and contains the C terminal engrailed homology 1 motif eh1 which provides an interactive surface with a transcriptional co repressor Grg4 Groucho related gene 4 6 Stem Cells edit Multiple studies have suggested Foxd3 involvement in the transition from naive to primed pluripotent stem cells in embryo development Previously Foxd3 was demonstrated to be required in maintaining pluripotency in mouse embryonic stem cells 7 A recent finding further showed that Foxd3 is necessary as a repressor in the transition from ESC to epiblast like cells EpiLC 8 The study proposed that Foxd3 is associated with inactivation of important naive pluripotency genes by its modification of chromatin structures via recruiting histone demethylases and decreasing the number of activating factors Another proposed mechanism on the other hand argued that Foxd3 begins nucleosome removal and induction to a primed pluripotent state by recruiting Brg1 a nucleosome remodeler and then acts as a repressor of maximal activation of those enhancers by recruiting histone deacetylases suggesting a complex mediating function in which enhancers are primed for some future controlled time point rather than immediate expression 9 While there is no ambiguity that Foxd3 plays an important role regulating the transition from naive to primed pluripotency state the two models show a different process Attempts to reconcile the conclusions of the two studies have further suggested that Foxd3 functions as all of the above 10 Neural Crest Cells edit FOXD3 plays an important role in the development and differentiation of neural crest cells 11 Specifically it is thought that FOXD3 plays an important role in controlling the developmental switch between Schwann Cell Progenitors and Melanocytes 11 Clinical significance editMutations in this gene cause vitiligo 12 References edit a b c GRCh38 Ensembl release 89 ENSG00000187140 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000067261 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 Hromas R Moore J Johnston T Socha C Klemsz M June 1993 Drosophila forkhead homologues are expressed in a lineage restricted manner in human hematopoietic cells Blood 81 11 2854 2859 doi 10 1182 blood V81 11 2854 2854 PMID 8499623 Yaklichkin S Steiner AB Lu Q Kessler DS January 2007 FoxD3 and Grg4 physically interact to repress transcription and induce mesoderm in Xenopus The Journal of Biological Chemistry 282 4 2548 2557 doi 10 1074 jbc M607412200 PMC 1780074 PMID 17138566 Hanna LA Foreman RK Tarasenko IA Kessler DS Labosky PA October 2002 Requirement for Foxd3 in maintaining pluripotent cells of the early mouse embryo Genes amp Development 16 20 2650 2661 doi 10 1101 gad 1020502 PMC 187464 PMID 12381664 Respuela P Nikolic M Tan M Frommolt P Zhao Y Wysocka J Rada Iglesias A January 2016 Foxd3 Promotes Exit from Naive Pluripotency through Enhancer Decommissioning and Inhibits Germline Specification Cell Stem Cell 18 1 118 133 doi 10 1016 j stem 2015 09 010 PMC 5048917 PMID 26748758 Krishnakumar R Chen AF Pantovich MG Danial M Parchem RJ Labosky PA Blelloch R January 2016 FOXD3 Regulates Pluripotent Stem Cell Potential by Simultaneously Initiating and Repressing Enhancer Activity Cell Stem Cell 18 1 104 117 doi 10 1016 j stem 2015 10 003 PMC 4775235 PMID 26748757 Plank Bazinet JL Mundell NA 2016 The paradox of Foxd3 how does it function in pluripotency and differentiation of embryonic stem cells Stem Cell Investigation 3 73 doi 10 21037 sci 2016 09 20 PMC 5104585 PMID 27868055 a b Nitzan E Pfaltzgraff ER Labosky PA Kalcheim C July 2013 Neural crest and Schwann cell progenitor derived melanocytes are two spatially segregated populations similarly regulated by Foxd3 Proceedings of the National Academy of Sciences of the United States of America 110 31 12709 12714 Bibcode 2013PNAS 11012709N doi 10 1073 pnas 1306287110 PMC 3732929 PMID 23858437 Alkhateeb A Fain PR Spritz RA August 2005 Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo The Journal of Investigative Dermatology 125 2 388 391 doi 10 1111 j 0022 202X 2005 23822 x PMID 16098053 Further reading editGuo Y Costa R Ramsey H Starnes T Vance G Robertson K et al March 2002 The embryonic stem cell transcription factors Oct 4 and FoxD3 interact to regulate endodermal specific promoter expression Proceedings of the National Academy of Sciences of the United States of America 99 6 3663 3667 Bibcode 2002PNAS 99 3663G doi 10 1073 pnas 062041099 PMC 122580 PMID 11891324 Levy D Larson MG Benjamin EJ Newton Cheh C Wang TJ Hwang SJ et al September 2007 Framingham Heart Study 100K Project genome wide associations for blood pressure and arterial stiffness BMC Medical Genetics 8 Suppl 1 S3 doi 10 1186 1471 2350 8 S1 S3 PMC 1995621 PMID 17903302 Saleem RA Banerjee Basu S Berry FB Baxevanis AD Walter MA March 2001 Analyses of the effects that disease causing missense mutations have on the structure and function of the winged helix protein FOXC1 American Journal of Human Genetics 68 3 627 641 doi 10 1086 318792 PMC 1274476 PMID 11179011 Buescher JL Martinez LB Sato S Okuyama S Ikezu T March 2009 YY1 and FoxD3 regulate antiretroviral zinc finger protein OTK18 promoter activation induced by HIV 1 infection Journal of Neuroimmune Pharmacology 4 1 103 115 doi 10 1007 s11481 008 9139 x PMC 2680142 PMID 19034670 nbsp This article on a gene on human chromosome 1 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title FOXD3 amp oldid 1175617633, wikipedia, wiki, 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