MAFB (gene): Difference between revisions

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{{DISPLAYTITLE:''MAFB'' (gene)}}
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{{Infobox_gene}}
| update_page = yes
'''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 20]]q11.2-q13.1, consists of a single exon and spans around 3 kb.<ref name="pmid10444328">{{cite journal | vauthors = Wang PW, Eisenbart JD, Cordes SP, Barsh GS, Stoffel M, Le Beau MM | title = Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias | journal = Genomics | volume = 59 | issue = 3 | pages = 275–81 | date = Aug 1999 | pmid = 10444328 | pmc = | doi = 10.1006/geno.1999.5884 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: MAFB v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9935| accessdate = }}</ref>
| require_manual_inspection = no
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| update_citations = yes
}}


<!-- 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 = V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)
| HGNCid = 6408
| Symbol = MAFB
| AltSymbols =; KRML; MGC43127
| OMIM = 608968
| ECnumber = 
| Homologene = 31315
| MGIid = 104555
| GeneAtlas_image1 = PBB_GE_MAFB_218559_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0008134 |text = transcription factor binding}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}} {{GNF_GO|id=GO:0046983 |text = protein dimerization activity}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005667 |text = transcription factor complex}}
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0007379 |text = segment specification}} {{GNF_GO|id=GO:0007423 |text = sensory organ development}} {{GNF_GO|id=GO:0007585 |text = respiratory gaseous exchange}} {{GNF_GO|id=GO:0042472 |text = inner ear morphogenesis}} {{GNF_GO|id=GO:0045647 |text = negative regulation of erythrocyte differentiation}} {{GNF_GO|id=GO:0045944 |text = positive regulation of transcription from RNA polymerase II promoter}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 9935
    | Hs_Ensembl = ENSG00000204103
    | Hs_RefseqProtein = NP_005452
    | Hs_RefseqmRNA = NM_005461
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 20
    | Hs_GenLoc_start = 38747902
    | Hs_GenLoc_end = 38751281
    | Hs_Uniprot = Q9Y5Q3
    | Mm_EntrezGene = 16658
    | Mm_Ensembl = ENSMUSG00000074622
    | Mm_RefseqmRNA = NM_010658
    | Mm_RefseqProtein = NP_034788
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 160057146
    | Mm_GenLoc_end = 160058117
    | Mm_Uniprot = Q3U3C8
  }}
}}
'''V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)''', also known as '''MAFB''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: MAFB v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9935| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
MafB is a basic leucine zipper ([[BZIP domain|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.<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene 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. This gene contains no introns.<ref name="entrez">{{cite web | title = Entrez Gene: MAFB v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9935| accessdate = }}</ref>
}}


==References==
== Clinical significance ==
{{reflist|2}}
 
==Further reading==
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.<ref name="pmid8001130">{{cite journal | vauthors = Cordes SP, Barsh GS | title = The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor | journal = Cell | volume = 79 | issue = 6 | pages = 1025–34 | date = Dec 1994 | pmid = 8001130 | doi = 10.1016/0092-8674(94)90033-7 }}</ref> This mice dies at birth due to renal failure whereas the Mafb -/- mice dies of central apnea.<ref name="pmid17360442">{{cite journal | vauthors = Artner I, Blanchi B, Raum JC, Guo M, Kaneko T, Cordes S, Sieweke M, Stein R | title = MafB is required for islet beta cell maturation | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 104 | issue = 10 | pages = 3853–8 | date = Mar 2007 | pmid = 17360442 | pmc = 1803762 | doi = 10.1073/pnas.0700013104 }}</ref>
{{refbegin | 2}}
 
{{PBB_Further_reading
Recently, [[single-nucleotide polymorphisms]] (SNPs) near MAFB have been found associated with  nonsyndromic [[cleft lip and palate]]. <ref name="pmid20436469">{{cite journal | vauthors = 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, Scott JM, Arcos-Burgos M, Scott AF | title = A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 | journal = Nature Genetics | volume = 42 | issue = 6 | pages = 525–9 | date = Jun 2010 | pmid = 20436469 | pmc = 2941216 | doi = 10.1038/ng.580 }}</ref> 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. <ref> Dixon MJ, Marazita ML, Beaty TH, Murray JC. 2011. Cleft lip and palate: understanding genetic and environmental influences. ''Nature Reviews Genetics''. 12: 167-178 </ref> 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.<ref name="pmid20436469"/> 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.<ref name="pmid20436469"/> 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. <ref> Dixon MJ, Marazita ML, Beaty TH, Murray JC. 2011. Cleft lip and palate: understanding genetic and environmental influences. ''Nature Reviews Genetics''. 12: 167-178 </ref>
| citations =
{{clear}}
*{{cite journal  | author=Cordes SP, Barsh GS |title=The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor. |journal=Cell |volume=79 |issue= 6 |pages= 1025-34 |year= 1995 |pmid= 8001130 |doi= }}
== References ==
*{{cite journal | author=Sieweke MH, Tekotte H, Frampton J, Graf T |title=MafB is an interaction partner and repressor of Ets-1 that inhibits erythroid differentiation. |journal=Cell |volume=85 |issue= 1 |pages= 49-60 |year= 1996 |pmid= 8620536 |doi= }}
{{reflist|33em}}
*{{cite journal | author=Stoffel M, Le Beau MM, Espinosa R, ''et al.'' |title=A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=93 |issue= 9 |pages= 3937-41 |year= 1996 |pmid= 8632993 |doi=  }}
 
*{{cite journal  | author=Wang PW, Eisenbart JD, Cordes SP, ''et al.'' |title=Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias. |journal=Genomics |volume=59 |issue= 3 |pages= 275-81 |year= 1999 |pmid= 10444328 |doi= 10.1006/geno.1999.5884 }}
== Further reading ==
*{{cite journal | author=Li R, Pei H, Watson DK, Papas TS |title=EAP1/Daxx interacts with ETS1 and represses transcriptional activation of ETS1 target genes. |journal=Oncogene |volume=19 |issue= 6 |pages= 745-53 |year= 2000 |pmid= 10698492 |doi= 10.1038/sj.onc.1203385 }}
{{refbegin|33em}}
*{{cite journal  | author=Yamada K, Tomita H, Yoshiura K, ''et al.'' |title=An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12. |journal=Eur. J. Hum. Genet. |volume=8 |issue= 7 |pages= 535-9 |year= 2000 |pmid= 10909854 |doi= 10.1038/sj.ejhg.5200485 }}
* {{cite journal | vauthors = Cordes SP, Barsh GS | title = The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor | journal = Cell | volume = 79 | issue = 6 | pages = 1025–34 | date = Dec 1994 | pmid = 8001130 | doi = 10.1016/0092-8674(94)90033-7 }}
*{{cite journal  | author=Deloukas P, Matthews LH, Ashurst J, ''et al.'' |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865-71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a }}
* {{cite journal | vauthors = Sieweke MH, Tekotte H, Frampton J, Graf T | title = MafB is an interaction partner and repressor of Ets-1 that inhibits erythroid differentiation | journal = Cell | volume = 85 | issue = 1 | pages = 49–60 | date = Apr 1996 | pmid = 8620536 | doi = 10.1016/S0092-8674(00)81081-8 }}
*{{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 = Stoffel M, Le Beau MM, Espinosa R, Bohlander SF, Le Paslier D, Cohen D, Xiang KS, Cox NJ, Fajans SS, Bell GI | title = A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 93 | issue = 9 | pages = 3937–41 | date = Apr 1996 | pmid = 8632993 | pmc = 39463 | doi = 10.1073/pnas.93.9.3937 }}
*{{cite journal | author=Rosenberger G, Jantke I, Gal A, Kutsche K |title=Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling. |journal=Hum. Mol. Genet. |volume=12 |issue= 2 |pages= 155-67 |year= 2003 |pmid= 12499396 |doi= }}
* {{cite journal | vauthors = Li R, Pei H, Watson DK, Papas TS | title = EAP1/Daxx interacts with ETS1 and represses transcriptional activation of ETS1 target genes | journal = Oncogene | volume = 19 | issue = 6 | pages = 745–53 | date = Feb 2000 | pmid = 10698492 | doi = 10.1038/sj.onc.1203385 }}
*{{cite journal | author=Hashizume H, Hamalainen H, Sun Q, ''et al.'' |title=Downregulation of mafB expression in T-helper cells during early differentiation in vitro. |journal=Scand. J. Immunol. |volume=57 |issue= 1 |pages= 28-34 |year= 2004 |pmid= 12542795 |doi= }}
* {{cite journal | vauthors = Yamada K, Tomita H, Yoshiura K, Kondo S, Wakui K, Fukushima Y, Ikegawa S, Nakamura Y, Amemiya T, Niikawa N | title = An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12 | journal = European Journal of Human Genetics | volume = 8 | issue = 7 | pages = 535–9 | date = Jul 2000 | pmid = 10909854 | doi = 10.1038/sj.ejhg.5200485 }}
*{{cite journal | author=Fernández-Calotti PX, Salamone G, Gamberale R, ''et al.'' |title=Downregulation of mac-1 expression in monocytes by surface-bound IgG. |journal=Scand. J. Immunol. |volume=57 |issue= 1 |pages= 35-44 |year= 2004 |pmid= 12542796 |doi= }}
* {{cite journal | vauthors = Rosenberger G, Jantke I, Gal A, Kutsche K | title = Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling | journal = Human Molecular Genetics | volume = 12 | issue = 2 | pages = 155–67 | date = Jan 2003 | pmid = 12499396 | doi = 10.1093/hmg/ddg019 }}
*{{cite journal | author=Mechta-Grigoriou F, Giudicelli F, Pujades C, ''et al.'' |title=c-jun regulation and function in the developing hindbrain. |journal=Dev. Biol. |volume=258 |issue= 2 |pages= 419-31 |year= 2003 |pmid= 12798298 |doi= }}
* {{cite journal | vauthors = Hashizume H, Hamalainen H, Sun Q, Sucharczuk A, Lahesmaa R | title = Downregulation of mafB expression in T-helper cells during early differentiation in vitro | journal = Scandinavian Journal of Immunology | volume = 57 | issue = 1 | pages = 28–34 | date = Jan 2003 | pmid = 12542795 | doi = 10.1046/j.1365-3083.2003.01181.x }}
*{{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 = Fernández-Calotti PX, Salamone G, Gamberale R, Trevani A, Vermeulen M, Geffner J, Giordano M | title = Downregulation of mac-1 expression in monocytes by surface-bound IgG | journal = Scandinavian Journal of Immunology | volume = 57 | issue = 1 | pages = 35–44 | date = Jan 2003 | pmid = 12542796 | doi = 10.1046/j.1365-3083.2003.01187.x }}
*{{cite journal | author=Kim JC, Badano JL, Sibold S, ''et al.'' |title=The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. |journal=Nat. Genet. |volume=36 |issue= 5 |pages= 462-70 |year= 2004 |pmid= 15107855 |doi= 10.1038/ng1352 }}
* {{cite journal | vauthors = Mechta-Grigoriou F, Giudicelli F, Pujades C, Charnay P, Yaniv M | title = c-jun regulation and function in the developing hindbrain | journal = Developmental Biology | volume = 258 | issue = 2 | pages = 419–31 | date = Jun 2003 | pmid = 12798298 | doi = 10.1016/S0012-1606(03)00135-0 }}
*{{cite journal | author=Sevinsky JR, Whalen AM, Ahn NG |title=Extracellular signal-regulated kinase induces the megakaryocyte GPIIb/CD41 gene through MafB/Kreisler. |journal=Mol. Cell. Biol. |volume=24 |issue= 10 |pages= 4534-45 |year= 2004 |pmid= 15121870 |doi= }}
* {{cite journal | vauthors = Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL | title = The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression | journal = Nature Genetics | volume = 36 | issue = 5 | pages = 462–70 | date = May 2004 | pmid = 15107855 | doi = 10.1038/ng1352 }}
*{{cite journal | author=Petersen HH, Hilpert J, Jacobsen C, ''et al.'' |title=Low-density lipoprotein receptor-related protein interacts with MafB, a regulator of hindbrain development. |journal=FEBS Lett. |volume=565 |issue= 1-3 |pages= 23-7 |year= 2004 |pmid= 15135046 |doi= 10.1016/j.febslet.2004.03.069 }}
* {{cite journal | vauthors = Sevinsky JR, Whalen AM, Ahn NG | title = Extracellular signal-regulated kinase induces the megakaryocyte GPIIb/CD41 gene through MafB/Kreisler | journal = Molecular and Cellular Biology | volume = 24 | issue = 10 | pages = 4534–45 | date = May 2004 | pmid = 15121870 | pmc = 400447 | doi = 10.1128/MCB.24.10.4534-4545.2004 }}
*{{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 | vauthors = Petersen HH, Hilpert J, Jacobsen C, Lauwers A, Roebroek AJ, Willnow TE | title = Low-density lipoprotein receptor-related protein interacts with MafB, a regulator of hindbrain development | journal = FEBS Letters | volume = 565 | issue = 1-3 | pages = 23–7 | date = May 2004 | pmid = 15135046 | doi = 10.1016/j.febslet.2004.03.069 }}
*{{cite journal | author=Bakri Y, Sarrazin S, Mayer UP, ''et al.'' |title=Balance of MafB and PU.1 specifies alternative macrophage or dendritic cell fate. |journal=Blood |volume=105 |issue= 7 |pages= 2707-16 |year= 2005 |pmid= 15598817 |doi= 10.1182/blood-2004-04-1448 }}
* {{cite journal | vauthors = Bakri Y, Sarrazin S, Mayer UP, Tillmanns S, Nerlov C, Boned A, Sieweke MH | title = Balance of MafB and PU.1 specifies alternative macrophage or dendritic cell fate | journal = Blood | volume = 105 | issue = 7 | pages = 2707–16 | date = Apr 2005 | pmid = 15598817 | doi = 10.1182/blood-2004-04-1448 }}
*{{cite journal | author=Gemelli C, Montanari M, Tenedini E, ''et al.'' |title=Virally mediated MafB transduction induces the monocyte commitment of human CD34+ hematopoietic stem/progenitor cells. |journal=Cell Death Differ. |volume=13 |issue= 10 |pages= 1686-96 |year= 2006 |pmid= 16456583 |doi= 10.1038/sj.cdd.4401860 }}
* {{cite journal | vauthors = Gemelli C, Montanari M, Tenedini E, Zanocco Marani T, Vignudelli T, Siena M, Zini R, Salati S, Tagliafico E, Manfredini R, Grande A, Ferrari S | title = Virally mediated MafB transduction induces the monocyte commitment of human CD34+ hematopoietic stem/progenitor cells | journal = Cell Death and Differentiation | volume = 13 | issue = 10 | pages = 1686–96 | date = Oct 2006 | pmid = 16456583 | doi = 10.1038/sj.cdd.4401860 }}
*{{cite journal  | author=Lee LC, Zhang AY, Chong AK, ''et al.'' |title=Expression of a novel gene, MafB, in Dupuytren's disease. |journal=The Journal of hand surgery |volume=31 |issue= 2 |pages= 211-8 |year= 2006 |pmid= 16473681 |doi= 10.1016/j.jhsa.2005.09.007 }}
* {{cite journal | vauthors = Lee LC, Zhang AY, Chong AK, Pham H, Longaker MT, Chang J | title = Expression of a novel gene, MafB, in Dupuytren's disease | journal = The Journal of Hand Surgery | volume = 31 | issue = 2 | pages = 211–8 | date = Feb 2006 | pmid = 16473681 | doi = 10.1016/j.jhsa.2005.09.007 }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
* {{MeshName|MAFB+protein,+human}}
* {{MeshName|MAFB+protein,+human}}
* {{UCSC genome browser|MAFB}}
* {{UCSC gene details|MAFB}}
{{NLM content}}
{{Transcription factors|g1}}




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

Latest revision as of 02:11, 27 October 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

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

  1. ↑ Wang PW, Eisenbart JD, Cordes SP, Barsh GS, Stoffel M, Le Beau MM (Aug 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.
  2. ↑ 2.0 2.1 "Entrez Gene: MAFB v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)".
  3. ↑ Cordes SP, Barsh GS (Dec 1994). "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.
  4. ↑ Artner I, Blanchi B, Raum JC, Guo M, Kaneko T, Cordes S, Sieweke M, Stein R (Mar 2007). "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. doi:10.1073/pnas.0700013104. PMC 1803762. PMID 17360442.
  5. ↑ 5.0 5.1 5.2 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, Scott JM, Arcos-Burgos M, Scott AF (Jun 2010). "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. doi:10.1038/ng.580. PMC 2941216. PMID 20436469.
  6. ↑ Dixon MJ, Marazita ML, Beaty TH, Murray JC. 2011. Cleft lip and palate: understanding genetic and environmental influences. Nature Reviews Genetics. 12: 167-178
  7. ↑ 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

External links

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

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