Biology:MAFB (gene)
 Generic protein structure example |
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
- ↑ "Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias". Genomics 59 (3): 275–81. Aug 1999. doi:10.1006/geno.1999.5884. PMID 10444328.
- ↑ 2.0 2.1 "Entrez Gene: MAFB v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9935.
- ↑ "The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor". Cell 79 (6): 1025–34. Dec 1994. doi:10.1016/0092-8674(94)90033-7. PMID 8001130.
- ↑ "MafB is required for islet beta cell maturation". Proceedings of the National Academy of Sciences of the United States of America 104 (10): 3853–8. Mar 2007. doi:10.1073/pnas.0700013104. PMID 17360442. Bibcode: 2007PNAS..104.3853A.
- ↑ 5.0 5.1 5.2 "A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4". Nature Genetics 42 (6): 525–9. Jun 2010. doi:10.1038/ng.580. 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
- "The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor". Cell 79 (6): 1025–34. Dec 1994. doi:10.1016/0092-8674(94)90033-7. PMID 8001130.
- "MafB is an interaction partner and repressor of Ets-1 that inhibits erythroid differentiation". Cell 85 (1): 49–60. Apr 1996. doi:10.1016/S0092-8674(00)81081-8. PMID 8620536.
- "A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene". Proceedings of the National Academy of Sciences of the United States of America 93 (9): 3937–41. Apr 1996. doi:10.1073/pnas.93.9.3937. PMID 8632993. Bibcode: 1996PNAS...93.3937S.
- "EAP1/Daxx interacts with ETS1 and represses transcriptional activation of ETS1 target genes". Oncogene 19 (6): 745–53. Feb 2000. doi:10.1038/sj.onc.1203385. PMID 10698492.
- "An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12". European Journal of Human Genetics 8 (7): 535–9. Jul 2000. doi:10.1038/sj.ejhg.5200485. PMID 10909854.
- "Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling". Human Molecular Genetics 12 (2): 155–67. Jan 2003. doi:10.1093/hmg/ddg019. PMID 12499396.
- "Downregulation of mafB expression in T-helper cells during early differentiation in vitro". Scandinavian Journal of Immunology 57 (1): 28–34. Jan 2003. doi:10.1046/j.1365-3083.2003.01181.x. PMID 12542795.
- "Downregulation of mac-1 expression in monocytes by surface-bound IgG". Scandinavian Journal of Immunology 57 (1): 35–44. Jan 2003. doi:10.1046/j.1365-3083.2003.01187.x. PMID 12542796.
- "c-jun regulation and function in the developing hindbrain". Developmental Biology 258 (2): 419–31. Jun 2003. doi:10.1016/S0012-1606(03)00135-0. PMID 12798298.
- "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression". Nature Genetics 36 (5): 462–70. May 2004. doi:10.1038/ng1352. PMID 15107855.
- "Extracellular signal-regulated kinase induces the megakaryocyte GPIIb/CD41 gene through MafB/Kreisler". Molecular and Cellular Biology 24 (10): 4534–45. May 2004. doi:10.1128/MCB.24.10.4534-4545.2004. PMID 15121870.
- "Low-density lipoprotein receptor-related protein interacts with MafB, a regulator of hindbrain development". FEBS Letters 565 (1–3): 23–7. May 2004. doi:10.1016/j.febslet.2004.03.069. PMID 15135046.
- "Balance of MafB and PU.1 specifies alternative macrophage or dendritic cell fate". Blood 105 (7): 2707–16. Apr 2005. doi:10.1182/blood-2004-04-1448. PMID 15598817.
- "Virally mediated MafB transduction induces the monocyte commitment of human CD34+ hematopoietic stem/progenitor cells". Cell Death and Differentiation 13 (10): 1686–96. Oct 2006. doi:10.1038/sj.cdd.4401860. PMID 16456583.
- "Expression of a novel gene, MafB, in Dupuytren's disease". The Journal of Hand Surgery 31 (2): 211–8. Feb 2006. 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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