PBB geneid 5077 PAX3 is a gene that belongs to the Pax genes paired box PAX family of transcription factor s. ref name entrez PAX3 human This gene was formerly known as splotch . ref name entrez PAX3 mouse cite web title Entrez Gene Pax3 paired box gene 3 Mus musculus url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 18505 accessdate ref PAX3 has been identified with ear .... In that way PAX3 contributes to early striated muscle development since all myoblast s are derived ... isoforms with different C terminus C termini . ref name entrez PAX3 human cite web title Entrez Gene PAX3 paired box 3 Homo sapiens url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 5077 accessdate ref Role in rhabdomyosarcoma A PAX3 FOXO1A FKHR fusion gene is often .... title Cell type specific regulation of distinct sets of gene targets by Pax3 and Pax3 FKHR journal ... 2 & 13 produce fusion protein PAX3 FKHR which serves as a tumor marker in this type of RMS.Also in ARMS expressing PAX3 FKHR increased risk of metastasis to bone marrow and hence increased rate of failure and death were seen. Interactions PAX3 has been shown to Protein protein interaction interact with MEOX1 ... V, Karagogeos D title Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription ... cite journal author Lang D, Epstein JA title Sox10 and Pax3 physically interact to mediate activation ... among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome journal Hum. Mol. Genet ... Mutations in PAX3 that cause Waardenburg syndrome type I ten new mutations and review of the literature ... ajmg.1320580205 cite journal author Blake J, Ziman MR title Aberrant PAX3 and PAX7 expression. A link ... isoforms of the PAX3 gene transcripts and their tissue specific alternative expression in human adult ... of the human PAX3 gene DNA sequence analysis of the region disrupted in alveolar rhabdomyosarcoma. journal ... structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause ... more details
Paired box Pax gene s are a family of tissue specific transcription factors containing a paired domain and usually a partial or complete homeodomain. An octapeptide may also be present. Pax protein s are important in early animal development for the specification of specific tissues, as well as during epimorphic limb regeneration in animals capable of such. Groups Within the mammalian family, there are four well defined groups of Pax genes. Pax group 1 Pax 1 and 9 , Pax group 2 Pax 2, 5 and 8 , Pax group 3 Pax 3 and 7 and Pax group 4 Pax 4 and 6 . Orthologous genes exist throughout the Metazoa , including extensive study of the ectopic expression in Drosophila using murine Pax6. Members PAX1 has been identified in mice with the development of vertebrate and embryo segmentation, and some evidence this is also true in humans. It transcribes a 440 amino acid protein from 4 exon s and 1,323bps in humans. PAX2 has been identified with kidney and optic nerve development. It transcribes a 417 amino acid protein from 11 exons and 4,261 bps in humans. Mutation of PAX2 in humans has been associated with renal coloboma syndrome as well as oligomeganephronia . ref OMIM 167409 ref PAX3 has been identified with ear, eye and facial development. It transcribes a 479 amino acid protein in humans. Mutations in it can cause Waardenburg syndrome . PAX3 is frequently expressed in melanoma melanomas ref name pmid20421967 cite journal author Medic S, Ziman M editor1 last Soyer editor1 first H. Peter title PAX3 Expression in Normal Skin Melanocytes and Melanocytic Lesions Naevi and Melanomas journal PLoS ONE volume 5 issue 4 page e9977 date April 2010 pmid 20421967 pmc 2858648 doi 10.1371 journal.pone.0009977 ref and contributes to tumor cell survival. ref name pmid11221862 cite journal author Scholl FA, Kamarashev J, Murmann OV, Geertsen R, Dummer R, Sch fer BW title PAX3 is expressed in human melanomas and contributes to tumor cell survival journal Cancer Res volume 61 issue 3 pages 823 ... more details
Infobox disease Name Alveolar rhabdomyosarcoma Image Caption DiseasesDB ICD10 ICD9 ICDO ICDO 8920 3 OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D018232 Alveolar rhabdomyosarcoma is a type of rhabdomyosarcoma characterized by its appearance, which is similar to the alveoli of the lungs. It can be associated with a fusion protein between PAX3 and FKHR now known as FOXO1 . ref name pmid7862145 cite journal author Fredericks WJ, Galili N, Mukhopadhyay S, et al. title The PAX3 FKHR fusion protein created by the t 2 13 translocation in alveolar rhabdomyosarcomas is a more potent transcriptional activator than PAX3 journal Mol. Cell. Biol. volume 15 issue 3 pages 1522 35 year 1995 month March pmid 7862145 pmc 230376 doi url http mcb.asm.org cgi pmidlookup?view long&pmid 7862145 ref ref name pmid18335505 cite journal author Mercado GE, Xia SJ, Zhang C, et al. title Identification of PAX3 FKHR regulated genes differentially expressed between alveolar and embryonal rhabdomyosarcoma focus on MYCN as a biologically relevant target journal Genes Chromosomes Cancer volume 47 issue 6 pages 510 20 year 2008 month June pmid 18335505 doi 10.1002 gcc.20554 ref It can also be associated with PAX7 FKHR. ref name pmid17311532 cite journal author Mercado GE, Barr FG title Fusions involving PAX and FOX genes in the molecular pathogenesis of alveolar rhabdomyosarcoma recent advances journal Curr. Mol. Med. volume 7 issue 1 pages 47 61 year 2007 month February pmid 17311532 doi 10.2174 156652407779940440 url http www.bentham direct.org pages content.php?CMM 2007 00000007 00000001 0005M.SGM ref ref name pmid17471488 cite journal author La M, Ahn EH, Mercado GE, et al. title Global gene expression profiling of PAX FKHR fusion positive alveolar and PAX FKHR fusion negative embryonal rhabdomyosarcomas journal J. Pathol. volume 212 issue 2 pages 143 51 year 2007 month June pmid 17471488 doi 10.1002 path.2170 ref References reflist 2 See also Pax genes Soft tissue tumors and sarcomas Chr ... more details
. See also SOX genes Interactions SOX10 has been shown to Protein protein interaction interact with PAX3 ... A year 2003 month Apr. title Sox10 and Pax3 physically interact to mediate activation of a conserved ... year 2000 month Aug. title Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg ... DE, et al. title Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome ... Sox10 and Pax3 physically interact to mediate activation of a conserved c RET enhancer journal Hum. Mol ... more details
citations cite journal author Blake J, Ziman MR title Aberrant PAX3 and PAX7 expression. A link to the metastatic ... of the PAX3 FKHR and PAX7 FKHR fusion genes in alveolar rhabdomyosarcoma. journal Hum. Mol ... with Pax3. journal Nat. Genet. volume 20 issue 1 pages 74 7 year 1998 pmid 9731536 doi 10.1038 1739 ... of the anti apoptotic protein BCL XL by the paired box transcription factors PAX3 and PAX3 FKHR. journal ... 11601392 doi cite journal author Sorensen PH, Lynch JC, Qualman SJ, et al. title PAX3 FKHR and PAX7 ... systems reveal that the PAX3 FKHR fusion oncoprotein regulates CXCR4, PAX3, and PAX7 expression journal ... more details
context date August 2010 Infobox Disease Name Yemenite deaf blind hypopigmentation syndrome Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM 601706 MedlinePlus eMedicineSubj eMedicineTopic Yemenite deaf blind hypopigmentation syndrome is a condition caused by a mutation on the SRY related HMG box gene 10 ref name Bolognia cite book author Rapini, Ronald P. Bolognia, Jean L. Jorizzo, Joseph L. title Dermatology 2 Volume Set publisher Mosby location St. Louis year 2007 pages 717 isbn 1 4160 2999 0 oclc doi accessdate ref not SOX10 . ref name pmid10441344 cite journal author Bondurand N, Kuhlbrodt K, Pingault V, et al. title A molecular analysis of the yemenite deaf blind hypopigmentation syndrome SOX10 dysfunction causes different neurocristopathies journal Hum. Mol. Genet. volume 8 issue 9 pages 1785 9 year 1999 month September pmid 10441344 doi 10.1093 hmg 8.9.1785 url http hmg.oxfordjournals.org cgi pmidlookup?view long&pmid 10441344 ref It was characterized in 1990. ref name pmid2280978 cite journal author Warburg M, Tommerup N, Vestermark S, et al. title The Yemenite deaf blind hypopigmentation syndrome. A new oculo dermato auditory syndrome journal Ophthalmic Paediatr Genet volume 11 issue 3 pages 201 7 year 1990 month September pmid 2280978 doi 10.3109 13816819009020980 url ref Some sources affirm SOX10 involvement. ref name pmid12668617 cite journal author Lang D, Epstein JA title Sox10 and Pax3 physically interact to mediate activation of a conserved c RET enhancer journal Hum. Mol. Genet. volume 12 issue 8 pages 937 45 year 2003 month April pmid 12668617 doi 10.1093 hmg ddg107 url http hmg.oxfordjournals.org cgi pmidlookup?view long&pmid 12668617 ref ref name HolschneiderPuri2007 cite book author1 Alexander M. Holschneider author2 Prem Puri title Hirschsprung s Disease and Allied Disorders url http books.google.com books?id qfsjKl sct4C&pg PA124 accessdate 2 January 2011 date 13 December 2007 publisher isbn 9783540339342 pages 124 ref See also ... more details
with PAX3 has been associated with alveolar rhabdomyosarcoma . ref name pmid8275086 ref name pmid18457914 cite journal author Linardic CM title PAX3 FOXO1 fusion gene in rhabdomyosarcoma journal Cancer ... JE, Jeon IS, Shapiro DN title The alveolar rhabdomyosarcoma PAX3 FKHR fusion protein is a transcriptional ... author Fredericks WJ, Galili N, Mukhopadhyay S, et al. title The PAX3 FKHR fusion protein created ... than PAX3. journal Mol. Cell. Biol. volume 15 issue 3 pages 1522 35 year 1995 pmid 7862145 doi ... domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma. journal Nat. Genet. volume 5 issue ... WJ, Rauscher FJ, et al. title The hybrid PAX3 FKHR fusion protein of alveolar rhabdomyosarcoma ... apoptotic protein BCL XL by the paired box transcription factors PAX3 and PAX3 FKHR. journal ... of IGF I receptor gene expression by the PAX3 FKHR oncoprotein. journal Growth Horm. IGF Res ... Sorensen PH, Lynch JC, Qualman SJ, et al. title PAX3 FKHR and PAX7 FKHR gene fusions are prognostic ... more details
193500 PAX3 2q35 Type IIa, WS2A originally WS2 OMIM2 193510 microphthalmia associated transcription ... WS2C 8p23 Type IId, WS2D very rare OMIM2 608890 SNAI2 8q11 Type III, WS3 OMIM2 148820 PAX3 2q35 Klein ... more details
2k b 314356244 ref ref name PAX3 thosegamingnerds.com, Dennis Shirk Interview , presented at PAX East ... accessdate March 14, 2012 last Austinat first Ronald ref ref name PAX ref name PAX2 ref name PAX3 ... more details
Orphan date February 2009 PBB geneid 7290 Protein HIRA is a protein that in humans is encoded by the HIRA gene . ref name pmid8111380 cite journal author Halford S, Wadey R, Roberts C, Daw SC, Whiting JA, O Donnell H, Dunham I, Bentley D, Lindsay E, Baldini A, et al. title Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease journal Hum Mol Genet volume 2 issue 12 pages 2099 107 year 1994 month Mar pmid 8111380 pmc doi 10.1093 hmg 2.12.2099 ref ref name pmid7633437 cite journal author Lamour V, Lecluse Y, Desmaze C, Spector M, Bodescot M, Aurias A, Osley MA, Lipinski M title A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region journal Hum Mol Genet volume 4 issue 5 pages 791 9 year 1995 month Sep pmid 7633437 pmc doi 10.1093 hmg 4.5.791 ref ref name pmid9731536 cite journal author Magnaghi P, Roberts C, Lorain S, Lipinski M, Scambler PJ title HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co repressors, interacts with Pax3 journal Nat Genet volume 20 issue 1 pages 74 7 year 1998 month Oct pmid 9731536 pmc doi 10.1038 1739 ref ref name entrez cite web title Entrez Gene HIRA HIR histone cell cycle regulation defective homolog A S. cerevisiae url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 7290 accessdate ref This gene is mapped to 22q11.21, centromeric to Catechol O methyl transferase COMT . ref name entrez Function The specific function of this protein has yet to be determined however, it has been speculated to play a role in transcriptional regulation and or chromatin and histone metabolism. ref name entrez Clinical significance It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome , and insufficient production of the gene may disrupt normal embryonic development. ref name ... more details
include Zic factors, Pax3 7, Dlx5, Msx1 2 which may mediate the influence of Wnts, BMPs ... 10.1242 dev.00878 ref Furthermore, Pax3 is essential for FoxD3 expression in mouse embryos. ref Dottori ... more details
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