Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PAX3 (paired box gene 3 (Waardenburg syndrome 1))

Identity

Other namesCDHS
HUP2
MGC120381
MGC120382
MGC120383
MGC120384
MGC134778
WS1
WS3
HGNC8617
HGNC (Hugo) PAX3
LocusID (NCBI) 5077
Location 2q36.1
Location_base_pair Starts at 223158349 and ends at 223163715 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

Description The PAX3 gene extends approximately 100 kb and consists of 10 exons.
Transcription In human tissues and tumors, seven alternatively spliced transcripts have been described. The abundant transcripts, which have been studied in neural-related tumor specimens and cell lines, appear to consist of the first eight or nine exons (PAX3c and PAX3d). In addition, there is also frequent alternative splicing at the 5¹ end of exon 3 in human tissues and tumors that results in inclusion or exclusion of a single codon encoding a glutamine residue.

Protein

Description 479 amino acids, 53.0 kDa (8 exon form, PAX3c) or 484 amino acids, 53.5 kDa (9 exon form, PAX3d). The isoform containing the variable glutamine residue at the exon 3/4 junction is referred to as Q+, while the isoform lacking the Q is designated as Q-.
Expression Based on experiments in the mouse, Pax3 is expressed in the spinal cord and selected regions of the brain. Pax3 is expressed in the neural crest and is involved in development of neural crest derivatives including spinal ganglia, melanocytes and Schwann cells. Pax3 expression is also detected in somite compartments that give rise to embryonic skeletal muscle progenitors, and in cells that give rise to skeletal muscle compartments of the developing limb buds. In addition, Pax3 (as well as Pax7 ) is also expressed in a proliferating population without skeletal muscle specific markers that reside within limb and trunk muscles throughout later development; and a subset of adult muscles subsequently contain Pax3-expressing satellite cells.
Localisation Nucleus.
Function PAX3 is a transcription factor characterized by three highly converved motifs in the N-terminal region: a paired box DNA binding domain, an intervening octapeptide of unclear function, and a homeobox DNA binding domain. The C-terminal region contains a proline-, serine- and threonine-rich transactivation domain.
Based on the studies of the mutant Pax3 alleles in the mouse (Splotch phenotype) as well as studies of patients with mutant PAX3 genes (see below), Pax3 is postulated to have a crucial role in the development of the early neural structures, derivatives of the neural crest, and skeletal musculature. In these developmental processes, there is evidence that the transcriptional function of Pax3 impacts at four biological activities:
1. proliferation
2. apoptosis
3. differentiation
4. motility
Homology PAX3 shares homology through the conserved paired box with eight other members of the PAX gene family. In particular, within the PAX gene family, PAX3 and PAX7 constitute a subfamily characterized by a paired box, intervening octapeptide and complete homeobox as well as homology between the C-terminal transcriptional activation domains.

Mutations

Germinal Germ-line sequence changes involving the PAX3 gene are found in Waardenburg syndrome type I and type III, a non-neoplastic autosomal dominant disorder characterized by hearing loss and pigmentary abnormalities. The majority of these alterations are nucleotide substitutions resulting in missense mutations, usually in the regions encoding the paired box or homeobox. A smaller number of base substitutions at splicing sites and small deletions and insertions, which usually alter the reading frame, have also been reported. Finally, there have also been several cases of large deletions and other rearrangements of chromosome 2.
Somatic The PAX3 gene is rearranged by the characteristic and recurrent acquired chromosomal translocation - t(2;13)(q35;q14) - in the myogenic soft tissue cancer alveolar rhabdomyosarcoma. As a result of this 2;13 translocation, portions of the PAX3 gene are juxtaposed with portions of the FKHR (also called FOXO1A) gene on chromosome 13. In particular, the 5' region of PAX3 including the first seven exons is joined to the 3' region of FKHR including its last two exons. Though the reciprocal chimeric gene is also generated, this PAX3-FKHR chimeric gene is more consistent and highly expressed, and results in expression of a fusion protein consisting of the intact PAX3 N-terminal DNA binding domain fused in-framed to the intact FKHR C-terminal transcriptional activation domain. This fusion protein functions as an aberrant transcription factor. In rare cases of alveolar rhabdomyosarcoma, PAX3 is fused to alternative C-terminal partners - MLLT7 (AFX, FOXO4) and EPIGENETICS

Implicated in

Entity Alveolar Rhabdomyosarcoma (ARMS)
Disease ARMS is one subtype of a family of pediatric soft tissue tumors that is related to the skeletal muscle lineage. In contrast to the embryonal rhabdomyosarcoma (ERMS), the other major subtype in this family, ARMS often occurs in adolescents and young adults, with primary tumors located in the vicinity of skeletal muscle, such as in the extremities and trunk.
Prognosis In contrast to the favorable outcome in most cases of ERMS, ARMS is associated with an unfavorable prognosis. In the IRS-IV clinical trial, the three year failure-free survival rate was 66% for patients presenting without metastatic disease and 16% for patients presenting with metastatic disease (compared to 83% and 37% for non-metastatic and metastatic ERMS, respectively). This unfavorable prognosis in ARMS is related to the propensity for early and wide dissemination, often involving bone marrow, and to poor response to chemotherapy.
Cytogenetics Chromosomal studies identified nonrandom chromosomal translocations that distinguish the majority of ARMS tumors from ERMS and other pediatric solid tumors. The t(2;13)(q35;q14) translocation is the most prevalent and the t(1;13)(p36;q14) is identified in a smaller subset of cases.
 
a) Diagram of t(2;13)(q35;q14) and t(1;13)(p36;q14) chromosomal translocations generating PAX3-FKHR and PAX7-FKHR fusions

b) Generation of chimeric genes by the t(2;13)(q35;q14) translocation in ARMS. The exons of the wild-type and fusion genes are shown as boxes above each map and the translocation breakpoint distributions are shown as line segments below the map of the wild-type genes.

c) Comparison of wild-type and fusion products associated with the 2;13 and 1;13 translocations. The paired box, octapeptide, homeobox and fork head domain are indicated as open boxes, and transcriptional domains (DNA binding domain, DBD; transcriptional activiation domain, TAD; transcriptional inhibitory domain, TID) are shown as solid bars. The sites phosphorylated by Akt are indicated by stars, and the alternative splice in the paired box is shown by an arrowhead. The vertical dash line indicates the translocation fusion point. {Reproduced from: Barr (2001) Oncogene 20: 5736- 5746}

Hybrid/Mutated Gene The 2;13 or 1;13 chromosome translocation juxtapose the PAX3 gene on chromosome 2 or the PAX7 gene on chromosome 1 with the FKHR (FOXO1A) gene on chromosome 13 to generate two chimeric genes. These chimeric genes are transcribed to generate chimeric transcripts, of which the PAX3-FKHR and PAX7-FKHR transcripts are the most highly and consistently expressed of the pair of potential products. Based on RT-PCR assays for these chimeric transcripts, approximately 60% of ARMS cases express PAX3-FKHR and thus contain the t(2;13), 20% express PAX7-FKHR and thus contain the t(1;13), and 20% are fusion-negative.
Oncogenesis The PAX3-FKHR and PAX7-FKHR chimeric genes encode fusion proteins that contain the intact DNA binding domain of PAX3 or PAX7 in the N-terminal region fused in frame with a C-terminal FKHR (FOXO1A) segment containing the transactivation domain. The chromosomal changes in ARMS result in high level expression, potent transcriptional activity, and constitutive nuclear localization of the PAX3-FKHR or PAX7-FKHR fusion products. The end result is exaggerated activity at multiple biological levels that converges to inappropriate activation of PAX3/PAX7 target genes and ultimately contributes to tumourigenic behavior.
  
Entity Waardenburg syndrome (type I et III)
Disease Waardenburg syndrome (WS) is an inherited autosomal-dominant disorder characterized by sensorineural hearing loss (of varying severity), dystopia canthorum (lateral displacement of inner corners of eye), and pigmentary disturbances of the eye, skin and hair. It is a common cause of inherited deafness in infants. Depending on additional symptoms, WS is classified into four types, WS1, WS2, WS3, and WS4, with only WS1 and WS3 being associated with PAX3 mutations. Deletions, insertion, base pair substitution, or dominant point mutations of PAX3 cause WS1 and WS3. WS3 (Klein-Waardenburg syndrome) is similar to WS1 but WS3 is also characterized by musculoskeletal abnormalities, usually involving the upper limbs. It should be noted that WS3 is often associated with deletions of the long arm of chromosome 2 involving multiples genes including PAX3 whereas WS1 is generally is associated with mutations within the PAX3 gene. WS2 is heterogenous, being caused by mutations in the MITF gene in some but not all affected families. WS4 is caused by mutations in the EDN3, EDNRB, or SOX10 ID genes.
  
Entity Craniofacial-deafness-hand syndrome (CDHS)
Disease Craniofacial-deafness-hand syndrome is inherited as an autosomal dominant mutation. CDHS shows clinical characteristics of the absence or hypoplasia of the nasal bones, profound sensorineural deafness, a small and short nose with slitlike nares, hypertelorism, short palpebral fissures, and limited movement at the wrist and ulnar deviations of the fingers. A missense mutation (Asn47Lys) in the paired domain (exon 2) of PAX3 was detected in a family of three (a mother and two children) first reported with this syndrome.
  

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors AmeloblastomID5945 MedulloblastomaID5065 rhab5004 rhabID5004 blad5001
bladID5001

External links

Nomenclature
HGNC (Hugo)PAX3   8617
Cards
AtlasPAX3ID70ch2q35
Entrez_Gene (NCBI)PAX3  5077  paired box 3
GeneCards (Weizmann)PAX3
Ensembl (Hinxton)ENSG00000135903 [Gene_View]  chr2:223158349-223163715 [Contig_View]  PAX3 [Vega]
ICGC DataPortalENSG00000135903
cBioPortalPAX3
AceView (NCBI)PAX3
Genatlas (Paris)PAX3
WikiGenes5077
SOURCE (Princeton)NM_000438 NM_001127366 NM_013942 NM_181457 NM_181458 NM_181459 NM_181460 NM_181461
Genomic and cartography
GoldenPath (UCSC)PAX3  -  2q36.1   chr2:223158349-223163715 -  2q36.1   [Description]    (hg19-Feb_2009)
EnsemblPAX3 - 2q36.1 [CytoView]
Mapping of homologs : NCBIPAX3 [Mapview]
OMIM122880   148820   193500   268220   606597   
Gene and transcription
Genbank (Entrez)AI382779 AI399816 AK291278 AY251279 AY251280
RefSeq transcript (Entrez)NM_000438 NM_001127366 NM_013942 NM_181457 NM_181458 NM_181459 NM_181460 NM_181461
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_011632 NT_005403 NW_001838865 NW_004929305
Consensus coding sequences : CCDS (NCBI)PAX3
Cluster EST : UnigeneHs.42146 [ NCBI ]
CGAP (NCI)Hs.42146
Alternative Splicing : Fast-db (Paris)GSHG0018370
Alternative Splicing GalleryENSG00000135903
Gene ExpressionPAX3 [ NCBI-GEO ]     PAX3 [ SEEK ]   PAX3 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP23760 (Uniprot)
NextProtP23760  [Medical]
With graphics : InterProP23760
Splice isoforms : SwissVarP23760 (Swissvar)
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    PAIRED_1 (PS00034)    PAIRED_2 (PS51057)   
Domains : Interpro (EBI)Homeobox_CS [organisation]   Homeobox_dom [organisation]   Homeodomain-like [organisation]   Paired_dom [organisation]   Pax7 [organisation]   WHTH_DNA-bd_dom [organisation]  
Related proteins : CluSTrP23760
Domain families : Pfam (Sanger)Homeobox (PF00046)    PAX (PF00292)    Pax7 (PF12360)   
Domain families : Pfam (NCBI)pfam00046    pfam00292    pfam12360   
Domain families : Smart (EMBL)HOX (SM00389)  PAX (SM00351)  
DMDM Disease mutations5077
Blocks (Seattle)P23760
PDB (SRS)3CMY   
PDB (PDBSum)3CMY   
PDB (IMB)3CMY   
PDB (RSDB)3CMY   
Human Protein AtlasENSG00000135903 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP23760
HPRD09421
IPIIPI00012896   IPI00219092   IPI00219093   IPI01025818   IPI01025463   IPI00328761   IPI00328760   IPI00375387   IPI00375388   IPI00895878   
Protein Interaction databases
DIP (DOE-UCLA)P23760
IntAct (EBI)P23760
FunCoupENSG00000135903
BioGRIDPAX3
InParanoidP23760
Interologous Interaction database P23760
IntegromeDBPAX3
STRING (EMBL)PAX3
Ontologies - Pathways
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  neural crest cell migration  neural tube closure  chromatin binding  sequence-specific DNA binding transcription factor activity  RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity  protein binding  nucleus  transcription from RNA polymerase II promoter  apoptotic process  heart development  muscle organ development  sensory perception of sound  cell proliferation  positive regulation of cell proliferation  organ morphogenesis  regulation of somitogenesis  spinal cord association neuron differentiation  sequence-specific DNA binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  developmental pigmentation  neuron fate commitment  mammary gland specification  HMG box domain binding  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  neural crest cell migration  neural tube closure  chromatin binding  sequence-specific DNA binding transcription factor activity  RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity  protein binding  nucleus  transcription from RNA polymerase II promoter  apoptotic process  heart development  muscle organ development  sensory perception of sound  cell proliferation  positive regulation of cell proliferation  organ morphogenesis  regulation of somitogenesis  spinal cord association neuron differentiation  sequence-specific DNA binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  developmental pigmentation  neuron fate commitment  mammary gland specification  HMG box domain binding  
Pathways : BIOCARTARegulation of transcriptional activity by PML [Genes]   
Pathways : KEGGTranscriptional misregulation in cancer   
Protein Interaction DatabasePAX3
Wikipedia pathwaysPAX3
Gene fusion - rearrangments
Rearrangement : COSMICFOXO1 [13q14.11]  -  PAX3 [2q36.1]  
  [COSF387] [COSF906] 
Rearrangement : COSMICPAX3 [2q36.1]  -  FOXO1 [13q14.11]  
  [COSF247] [COSF248] [COSF343] 
Rearrangement : COSMICPAX3 [2q36.1]  -  NCOA1 [2p23.3]  
  [COSF1042] [COSF1043] [COSF289] [COSF290] 
Rearrangement : COSMICPAX3 [2q36.1]  -  NCOA2 [8q13.3]  
  [COSF1040] [COSF1041] 
Rearrangement : TICdbPAX3 [2q36.1]  -  NCOA1 [3q27.3]
Rearrangement : TICdbPAX3 [2q36.1]  -  NCOA2 [17q21.2]
Rearrangement : TICdbFOXO1 [13q14.11]  -  PAX3 [3p14.2]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PAX3
snp3D : Map Gene to Disease5077
SNP (GeneSNP Utah)PAX3
SNP : HGBasePAX3
Genetic variants : HAPMAPPAX3
Exome VariantPAX3
1000_GenomesPAX3 
ICGC programENSG00000135903 
Cancer Gene: CensusPAX3 
Somatic Mutations in Cancer : COSMICPAX3 
CONAN: Copy Number AnalysisPAX3 
Mutations and Diseases : HGMDPAX3
Mutations and Diseases : intOGenPAX3
Genomic VariantsPAX3  PAX3 [DGVbeta]
dbVarPAX3
ClinVarPAX3
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM122880    148820    193500    268220    606597   
MedgenPAX3
GENETestsPAX3
Disease Genetic AssociationPAX3
Huge Navigator PAX3 [HugePedia]  PAX3 [HugeCancerGEM]
General knowledge
Homologs : HomoloGenePAX3
Homology/Alignments : Family Browser (UCSC)PAX3
Phylogenetic Trees/Animal Genes : TreeFamPAX3
Chemical/Protein Interactions : CTD5077
Chemical/Pharm GKB GenePA32957
Clinical trialPAX3
Cancer Resource (Charite)ENSG00000135903
Other databases
Probes
Litterature
PubMed161 Pubmed reference(s) in Entrez
CoreMinePAX3
iHOPPAX3
OncoSearchPAX3

Bibliography

Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness.
Sommer A, Young-Wee T, Frye T
American journal of medical genetics. 1983 ; 15 (1) : 71-77.
PMID 6859126
 
Pax-3, a novel murine DNA binding protein expressed during early neurogenesis.
Goulding MD, Chalepakis G, Deutsch U, Erselius JR, Gruss P
The EMBO journal. 1991 ; 10 (5) : 1135-1147.
PMID 2022185
 
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome.
Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A
Nature. 1992 ; 355 (6361) : 637-638.
PMID 1347149
 
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.
Tassabehji M, Read AP, Newton VE, Harris R, Balling R, Gruss P, Strachan T
Nature. 1992 ; 355 (6361) : 635-636.
PMID 1347148
 
Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma.
Barr FG, Galili N, Holick J, Biegel JA, Rovera G, Emanuel BS
Nature genetics. 1993 ; 3 (2) : 113-117.
PMID 8098985
 
Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma.
Galili N, Davis RJ, Fredericks WJ, Mukhopadhyay S, Rauscher FJ 3rd, Emanuel BS, Rovera G, Barr FG
Nature genetics. 1993 ; 5 (3) : 230-235.
PMID 8275086
 
Pax-3 is required for the development of limb muscles: a possible role for the migration of dermomyotomal muscle progenitor cells.
Bober E, Franz T, Arnold HH, Gruss P, Tremblay P
Development (Cambridge, England). 1994 ; 120 (3) : 603-612.
PMID 8162858
 
Pax3: a paired domain gene as a regulator in PNS myelination.
Kioussi C, Gross MK, Gruss P
Neuron. 1995 ; 15 (3) : 553-562.
PMID 7546735
 
The mutational spectrum in Waardenburg syndrome.
Tassabehji M, Newton VE, Liu XZ, Brady A, Donnai D, Krajewska-Walasek M, Murday V, Norman A, Obersztyn E, Reardon W
Human molecular genetics. 1995 ; 4 (11) : 2131-2137.
PMID 8589691
 
Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.
Asher JH Jr, Sommer A, Morell R, Friedman TB
Human mutation. 1996 ; 7 (1) : 30-35.
PMID 8664898
 
Induction of apoptosis in rhabdomyosarcoma cells through down-regulation of PAX proteins.
Bernasconi M, Remppis A, Fredericks WJ, Rauscher FJ 3rd, Schˆ§fer BW
Proceedings of the National Academy of Sciences of the United States of America. 1996 ; 93 (23) : 13164-13169.
PMID 8917562
 
An alternative splicing event in the Pax-3 paired domain identifies the linker region as a key determinant of paired domain DNA-binding activity.
Vogan KJ, Underhill DA, Gros P
Molecular and cellular biology. 1996 ; 16 (12) : 6677-6686.
PMID 8943322
 
Fusion genes resulting from alternative chromosomal translocations are overexpressed by gene-specific mechanisms in alveolar rhabdomyosarcoma.
Davis RJ, Barr FG
Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (15) : 8047-8051.
PMID 9223312
 
Waardenburg syndrome.
Read AP, Newton VE
Journal of medical genetics. 1997 ; 34 (8) : 656-665.
PMID 9279758
 
PAX3 gene structure, alternative splicing and evolution.
Barber TD, Barber MC, Cloutier TE, Friedman TB
Gene. 1999 ; 237 (2) : 311-319.
PMID 10521655
 
Predominant expression of alternative PAX3 and PAX7 forms in myogenic and neural tumor cell lines.
Barr FG, Fitzgerald JC, Ginsberg JP, Vanella ML, Davis RJ, Bennicelli JL
Cancer research. 1999 ; 59 (21) : 5443-5448.
PMID 10554014
 
PAX3 and PAX7 exhibit conserved cis-acting transcription repression domains and utilize a common gain of function mechanism in alveolar rhabdomyosarcoma.
Bennicelli JL, Advani S, Schˆ§fer BW, Barr FG
Oncogene. 1999 ; 18 (30) : 4348-4356.
PMID 10439042
 
The oncogenic potential of the Pax3-FKHR fusion protein requires the Pax3 homeodomain recognition helix but not the Pax3 paired-box DNA binding domain.
Lam PY, Sublett JE, Hollenbach AD, Roussel MF
Molecular and cellular biology. 1999 ; 19 (1) : 594-601.
PMID 9858583
 
Gene fusions involving PAX and FOX family members in alveolar rhabdomyosarcoma.
Barr FG
Oncogene. 2001 ; 20 (40) : 5736-5746.
PMID 11607823
 
Intergroup rhabdomyosarcoma study-IV: results for patients with nonmetastatic disease.
Crist WM, Anderson JR, Meza JL, Fryer C, Raney RB, Ruymann FB, Breneman J, Qualman SJ, Wiener E, Wharam M, Lobe T, Webber B, Maurer HM, Donaldson SS
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2001 ; 19 (12) : 3091-3102.
PMID 11408506
 
Genetic heterogeneity in the alveolar rhabdomyosarcoma subset without typical gene fusions.
Barr FG, Qualman SJ, Macris MH, Melnyk N, Lawlor ER, Strzelecki DM, Triche TJ, Bridge JA, Sorensen PH
Cancer research. 2002 ; 62 (16) : 4704-4710.
PMID 12183429
 
PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group.
Sorensen PH, Lynch JC, Qualman SJ, Tirabosco R, Lim JF, Maurer HM, Bridge JA, Crist WM, Triche TJ, Barr FG
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2002 ; 20 (11) : 2672-2679.
PMID 12039929
 
Prognostic factors and clinical outcomes in children and adolescents with metastatic rhabdomyosarcoma--a report from the Intergroup Rhabdomyosarcoma Study IV.
Breneman JC, Lyden E, Pappo AS, Link MP, Anderson JR, Parham DM, Qualman SJ, Wharam MD, Donaldson SS, Maurer HM, Meyer WH, Baker KS, Paidas CN, Crist WM
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2003 ; 21 (1) : 78-84.
PMID 12506174
 
Craniofacial-deafness-hand syndrome revisited.
Sommer A, Bartholomew DW
American journal of medical genetics. Part A. 2003 ; 123 (1) : 91-94.
PMID 14556253
 
Expression of PAX 3 alternatively spliced transcripts and identification of two new isoforms in human tumors of neural crest origin.
Parker CJ, Shawcross SG, Li H, Wang QY, Herrington CS, Kumar S, MacKie RM, Prime W, Rennie IG, Sisley K, Kumar P
International journal of cancer. Journal international du cancer. 2004 ; 108 (2) : 314-320.
PMID 14639621
 
Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1.
Wachtel M, Dettling M, Koscielniak E, Stegmaier S, Treuner J, Simon-Klingenstein K, Bˆºhlmann P, Niggli FK, Schˆ§fer BW
Cancer research. 2004 ; 64 (16) : 5539-5545.
PMID 15313887
 
Co-expression of alternatively spliced forms of PAX3, PAX7, PAX3-FKHR and PAX7-FKHR with distinct DNA binding and transactivation properties in rhabdomyosarcoma.
Du S, Lawrence EJ, Strzelecki D, Rajput P, Xia SJ, Gottesman DM, Barr FG
International journal of cancer. Journal international du cancer. 2005 ; 115 (1) : 85-92.
PMID 15688409
 
Pax3 functions at a nodal point in melanocyte stem cell differentiation.
Lang D, Lu MM, Huang L, Engleka KA, Zhang M, Chu EY, Lipner S, Skoultchi A, Millar SE, Epstein JA
Nature. 2005 ; 433 (7028) : 884-887.
PMID 15729346
 
A Pax3/Pax7-dependent population of skeletal muscle progenitor cells.
Relaix F, Rocancourt D, Mansouri A, Buckingham M
Nature. 2005 ; 435 (7044) : 948-953.
PMID 15843801
 
Pax3 and Pax7 have distinct and overlapping functions in adult muscle progenitor cells.
Relaix F, Montarras D, Zaffran S, Gayraud-Morel B, Rocancourt D, Tajbakhsh S, Mansouri A, Cumano A, Buckingham M
The Journal of cell biology. 2006 ; 172 (1) : 91-102.
PMID 16380438
 
A PANorama of PAX genes in cancer and development.
Robson EJ, He SJ, Eccles MR
Nature reviews. Cancer. 2006 ; 6 (1) : 52-62.
PMID 16397527
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written07-2006Eun Hyun Ahn, Frederic G. Barr
University of Pennsylvania, School of Medicine,Dept of Pathology and Laboratory Medicine, 506 Stellar-chance Laboratories, 422 Curie Boulevard, Philadelphia, PA 19104, USA

Citation

This paper should be referenced as such :
Ahn, EH ; Barr, FG
PAX3 (paired box gene 3 (Waardenburg syndrome 1))
Atlas Genet Cytogenet Oncol Haematol. 2006;10(4):253-256.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/PAX3ID70ch2q35.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Oct 4 12:46:43 CEST 2014

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.