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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/09/17 00:01:54」(JST)

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PAX3 is a gene that belongs to the paired box (PAX) family of transcription factors.^[1] This gene was formerly known as splotch.^[2] PAX3 has been identified with ear, eye and facial development.^[3] Mutations in it can cause Waardenburg syndrome types 1 and 3 . It is expressed in early embryonic phases in dermatomyotome of paraxial mesoderm which it helps to demarcate. In that way PAX3 contributes to early striated muscle development since all myoblasts are derived from dermatomyotome of paraxial mesoderm.

Alternative splicing results in transcripts encoding isoforms with different C-termini.^[1]

Role in rhabdomyosarcoma

A PAX3/FKHR fusion gene is often associated with the alveolar type of rhabdomyosarcoma,^[4] a kind of cancer arisen from striated muscle cells. Translocation between chromosomes 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 interact with MEOX1,^[5] MEOX2^[5] and SOX10^[6]^[7] as well as phosphatidylcholine transfer protein (PCTP).^[8] PAX3 has an important relationship with c-met in myogenesis; if PAX3 is mutated, c-met expression may be inhibited or prevented altogether resulting in a lack of lateral migration.

References

^ ^a ^b "Entrez Gene: PAX3 paired box 3 [Homo sapiens]".
^ "Entrez Gene: Pax3 paired box gene 3 [Mus musculus]".
^ http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1002932
^ Begum S, Emami N, Emani N et al. (March 2005). "Cell-type-specific regulation of distinct sets of gene targets by Pax3 and Pax3/FKHR". Oncogene 24 (11): 1860–72. doi:10.1038/sj.onc.1208315. PMID 15688035.
^ ^a ^b Stamataki D, Kastrinaki M, Mankoo BS, Pachnis V, Karagogeos D (June 2001). "Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors". FEBS Lett. 499 (3): 274–8. doi:10.1016/S0014-5793(01)02556-X. PMID 11423130.
^ Lang D, Epstein JA (April 2003). "Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer". Hum. Mol. Genet. 12 (8): 937–45. doi:10.1093/hmg/ddg107. PMID 12668617.
^ Bondurand N, Pingault V, Goerich DE, Lemort N, Sock E, Le Caignec C, Wegner M, Goossens M (August 2000). "Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome". Hum. Mol. Genet. 9 (13): 1907–17. doi:10.1093/hmg/9.13.1907. PMID 10942418.
^ Kanno K, Wu MK, Agate DA, Fanelli BK, Wagle N, Scapa EF, Ukomadu C, Cohen DE (October 2007). "Interacting proteins dictate function of the minimal START domain phosphatidylcholine transfer protein/StarD2.". J. Biol. Chem. 282 (42): 30728–36. doi:10.1074/jbc.M703745200. PMID 17704541.

External links

GeneReviews/NCBI/NIH/UW entry on Waardenburg Syndrome Type I
PAX3 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.

UpToDate Contents

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1. 小児および思春期の横紋筋肉腫：疫学、病理、および分子学的病因 rhabdomyosarcoma in childhood and adolescence epidemiology pathology and molecular pathogenesis
2. 軟部および骨肉腫の病原因子 pathogenetic factors in soft tissue and bone sarcomas
3. 遺伝性皮膚症 the genodermatoses

English Journal

Fusion of the AHRR and NCOA2 genes through a recurrent translocation t(5;8)(p15;q13) in soft tissue angiofibroma results in upregulation of aryl hydrocarbon receptor target genes.

Jin Y, Möller E, Nord KH, Mandahl N, Von Steyern FV, Domanski HA, Mariño-Enríquez A, Magnusson L, Nilsson J, Sciot R, Fletcher CD, Debiec-Rychter M, Mertens F.SourceDepartment of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, Lund, Sweden.
Genes, chromosomes & cancer.Genes Chromosomes Cancer.2012 May;51(5):510-20. doi: 10.1002/gcc.21939. Epub 2012 Feb 15.
Soft tissue angiofibroma is a recently delineated tumor type of unknown cellular origin. Cytogenetic analysis of four cases showed that they shared a t(5;8)(p15;q13). In three of them it was the sole change, underlining its pathogenetic significance. FISH mapping suggested the involvement of the ary
PMID 22337624

Japanese Journal

iPS細胞と筋ジストロフィー : ジストロフィーの細胞移植治療の実現化を目指して (特集 iPS細胞と神経疾患)

西山尚志,武田伸一
Brain and nerve : 神経研究の進歩 64(1), 39-46, 2012-01
NAID 40019143157

Mutual repression between Pax3 and Pax6 is involved in the positioning of ophthalmic trigeminal placode in avian embryo

WAKAMATSU Yoshio
Development, growth & differentiation 53(9), 994-1003, 2011-12-01
NAID 10030404195

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拡張検索	「PAX3/FKHR fusion gene」
関連記事	「PA」「PAX」

「PAX3/FKHR fusion gene」

Paired box 3
Available structures
PDB	Ortholog search: PDBe, RCSB
List of PDB id codes
	3CMY
Identifiers
Symbols	PAX3 ; CDHS; HUP2; WS1; WS3
External IDs	OMIM: 606597 MGI: 97487 HomoloGene: 22494 GeneCards: PAX3 Gene
Gene ontology
Molecular function	• chromatin binding; • sequence-specific DNA binding transcription factor activity; • RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; • protein binding; • sequence-specific DNA binding; • HMG box domain binding;
Cellular component	• nucleoplasm;
Biological process	• negative regulation of transcription from RNA polymerase II promoter; • neural crest cell migration; • neural tube closure; • chromatin organization; • transcription from RNA polymerase II promoter; • apoptotic process; • heart development; • sensory perception of sound; • cell proliferation; • positive regulation of cell proliferation; • organ morphogenesis; • regulation of somitogenesis; • spinal cord association neuron differentiation; • positive regulation of transcription, DNA-templated; • positive regulation of transcription from RNA polymerase II promoter; • developmental pigmentation; • neuron fate commitment; • skeletal muscle organ development; • mammary gland specification;
	Sources: Amigo / QuickGO
RNA expression pattern
	More reference expression data
Orthologs
	v; t; e;