Transcription factor MafB also known as V-maf musculoaponeurotic fibrosarcoma oncogene homolog B is a protein that in humans is encoded by the MAFB gene. This gene maps to chromosome 20q11.2-q13.1, consists of a single exon and spans around 3 kb.[1][2]
Function
MafB is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells.[2]
Clinical significance
Mutations in the murine Mafb gene are responsible for the mutant mouse Kreisler (kr) that presents an abnormal segmentation of the hindbrain and exhibit hyperactive behavior, including head tossing and running in circles.[3] This mice dies at birth due to renal failure whereas the Mafb -/- mice dies of central apnea.[4]
Recently, single-nucleotide polymorphisms (SNPs) near MAFB have been found associated with nonsyndromic cleft lip and palate. [5] The GENEVA Cleft Consortium study, a genomewide association study involving 1,908 case-parent trios from Europe, the United States, China, Taiwan, Singapore, Korea, and the Philippines, first identified MAFB as being associated with cleft lip and/or palate with stronger genome-wide significance in Asian than European populations. The difference in populations could reflect variable coverage by available markers or true allelic heterogeneity. [6] In mouse models, Mafb mRNA and protein were detected in both craniofacial ectoderm and neural crest-derived mesoderm between embryonic days 13.5 and 14.5; expression was strong in the epithelium around the palatal shelves and in the medial edge epithelium during palatal fusion. After fusion, Mafb expression was stronger in oral epithelium compared to mesenchymal tissue.[5] In addition, sequencing analysis detected a new missense mutation in the Filipino population, H131Q, that was significantly more frequent in cases than in matched controls.[5] The gene-poor regions either side of the MAFB gene include numerous binding sites for transcription factors that are known to have a role in palate development. [7]
References
- ^ Wang PW, Eisenbart JD, Cordes SP, Barsh GS, Stoffel M, Le Beau MM (Nov 1999). "Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias". Genomics 59 (3): 275–81. doi:10.1006/geno.1999.5884. PMID 10444328.
- ^ a b "Entrez Gene: MAFB v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)".
- ^ Cordes SP, Barsh GS (1995). "The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor". Cell 79 (6): 1025–34. doi:10.1016/0092-8674(94)90033-7. PMID 8001130.
- ^ Artner I, Blanchi B, Raum JC, Guo M, Kaneko T, Cordes S, Sieweke M, Stein R. (Feb 2007). "MafB is required for islet β cell maturation". Proc Natl Acad Sci USA 104 (10): 3853–8. doi:10.1073/pnas.0700013104. PMC 1803762. PMID 17360442.
- ^ a b c Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Liang KY, Wu T, Murray T, Fallin MD, Redett RA, Raymond G, Schwender H, Jin SC, Cooper ME, Dunnwald M, Mansilla MA, Leslie E, Bullard S, Lidral AC, Moreno LM, Menezes R, Vieira AR, Petrin A, Wilcox AJ, Lie RT, Jabs EW, Wu-Chou YH, Chen PK, Wang H, Ye X, Huang S, Yeow V, Chong SS, Jee SH, Shi B, Christensen K, Melbye M, Doheny KF, Pugh EW, Ling H, Castilla EE, Czeizel AE, Ma L, Field LL, Brody L, Pangilinan F, Mills JL, Molloy AM, Kirke PN, Scott JM, Arcos-Burgos M, Scott AF. (May 2010). "A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4". Nat. Genet. 42 (6): 525–9. doi:10.1038/ng.580. PMC 2941216. PMID 20436469.
- ^ Dixon MJ, Marazita ML, Beaty TH, Murray JC. 2011. Cleft lip and palate: understanding genetic and environmental influences. Nature Reviews Genetics. 12: 167-178
- ^ Dixon MJ, Marazita ML, Beaty TH, Murray JC. 2011. Cleft lip and palate: understanding genetic and environmental influences. Nature Reviews Genetics. 12: 167-178
Further reading
- Cordes SP, Barsh GS (1995). "The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor". Cell 79 (6): 1025–34. doi:10.1016/0092-8674(94)90033-7. PMID 8001130.
- Sieweke MH, Tekotte H, Frampton J, Graf T (1996). "MafB is an interaction partner and repressor of Ets-1 that inhibits erythroid differentiation". Cell 85 (1): 49–60. doi:10.1016/S0092-8674(00)81081-8. PMID 8620536.
- Stoffel M; Le Beau MM; Espinosa R et al. (1996). "A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene". Proc. Natl. Acad. Sci. U.S.A. 93 (9): 3937–41. doi:10.1073/pnas.93.9.3937. PMC 39463. PMID 8632993.
- Li R, Pei H, Watson DK, Papas TS (2000). "EAP1/Daxx interacts with ETS1 and represses transcriptional activation of ETS1 target genes". Oncogene 19 (6): 745–53. doi:10.1038/sj.onc.1203385. PMID 10698492.
- Yamada K; Tomita H; Yoshiura K et al. (2000). "An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12". Eur. J. Hum. Genet. 8 (7): 535–9. doi:10.1038/sj.ejhg.5200485. PMID 10909854.
- Deloukas P; Matthews LH; Ashurst J et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.
- Strausberg RL; Feingold EA; Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Rosenberger G, Jantke I, Gal A, Kutsche K (2003). "Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling". Hum. Mol. Genet. 12 (2): 155–67. doi:10.1093/hmg/ddg019. PMID 12499396.
- Hashizume H; Hamalainen H; Sun Q et al. (2004). "Downregulation of mafB expression in T-helper cells during early differentiation in vitro". Scand. J. Immunol. 57 (1): 28–34. doi:10.1046/j.1365-3083.2003.01181.x. PMID 12542795.
- Fernández-Calotti PX; Salamone G; Gamberale R et al. (2004). "Downregulation of mac-1 expression in monocytes by surface-bound IgG". Scand. J. Immunol. 57 (1): 35–44. doi:10.1046/j.1365-3083.2003.01187.x. PMID 12542796.
- Mechta-Grigoriou F; Giudicelli F; Pujades C et al. (2003). "c-jun regulation and function in the developing hindbrain". Dev. Biol. 258 (2): 419–31. doi:10.1016/S0012-1606(03)00135-0. PMID 12798298.
- Ota T; Suzuki Y; Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Kim JC; Badano JL; Sibold S et al. (2004). "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression". Nat. Genet. 36 (5): 462–70. doi:10.1038/ng1352. PMID 15107855.
- Sevinsky JR, Whalen AM, Ahn NG (2004). "Extracellular Signal-Regulated Kinase Induces the Megakaryocyte GPIIb/CD41 Gene through MafB/Kreisler". Mol. Cell. Biol. 24 (10): 4534–45. doi:10.1128/MCB.24.10.4534-4545.2004. PMC 400447. PMID 15121870.
- Petersen HH; Hilpert J; Jacobsen C et al. (2004). "Low-density lipoprotein receptor-related protein interacts with MafB, a regulator of hindbrain development". FEBS Lett. 565 (1–3): 23–7. doi:10.1016/j.febslet.2004.03.069. PMID 15135046.
- Gerhard DS; Wagner L; Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Bakri Y; Sarrazin S; Mayer UP et al. (2005). "Balance of MafB and PU.1 specifies alternative macrophage or dendritic cell fate". Blood 105 (7): 2707–16. doi:10.1182/blood-2004-04-1448. PMID 15598817.
- Gemelli C; Montanari M; Tenedini E et al. (2006). "Virally mediated MafB transduction induces the monocyte commitment of human CD34+ hematopoietic stem/progenitor cells". Cell Death Differ. 13 (10): 1686–96. doi:10.1038/sj.cdd.4401860. PMID 16456583.
- Lee LC; Zhang AY; Chong AK et al. (2006). "Expression of a novel gene, MafB, in Dupuytren's disease". The Journal of hand surgery 31 (2): 211–8. doi:10.1016/j.jhsa.2005.09.007. PMID 16473681.
External links
- MAFB protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
- MAFB human gene location in the UCSC Genome Browser.
- MAFB human gene details in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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