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{{Infobox gene}}
{{PBB_Controls
'''Paired box protein Pax-7''' is a [[protein]] that in humans is encoded by the ''PAX7'' [[gene]].<ref name="pmid7981748">{{cite journal | vauthors = Stapleton P, Weith A, Urbánek P, Kozmik Z, Busslinger M | title = Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9 | journal = Nature Genetics | volume = 3 | issue = 4 | pages = 292–8 | date = April 1993 | pmid = 7981748 | pmc =  | doi = 10.1038/ng0493-292 }}</ref><ref name="pmid8431641">{{cite journal | vauthors = Pilz AJ, Povey S, Gruss P, Abbott CM | title = Mapping of the human homologs of the murine paired-box-containing genes | journal = Mammalian Genome | volume = 4 | issue = 2 | pages = 78–82 | date = March 1993 | pmid = 8431641 | pmc =  | doi = 10.1007/BF00290430 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PAX7 paired box gene 7| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5081| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
Pax-7 plays a role in [[neural crest]] development and [[gastrulation]], and it is an important factor in the expression of neural crest markers such as [[SNAI2|Slug]], [[SOX9|Sox9]], [[SOX10|Sox10]] and [[B3GAT1|HNK-1]].<ref name="pmid16688176">{{cite journal | vauthors = Basch ML, Bronner-Fraser M, García-Castro MI | title = Specification of the neural crest occurs during gastrulation and requires Pax7 | journal = Nature | volume = 441 | issue = 7090 | pages = 218–22 | date = May 2006 | pmid = 16688176 | doi = 10.1038/nature04684 }}</ref> PAX7 is expressed in the [[Secondary palate development#Palatal shelf elevation|palatal shelf]] of the [[maxilla]], [[Meckel's cartilage]], [[midbrain|mesencephalon]], nasal cavity, nasal epithelium, nasal capsule and [[pons]].
| image =
| image_source =
| PDB =  
| Name = Paired box gene 7
| HGNCid = 8621
| Symbol = PAX7
| AltSymbols =; HUP1; PAX7B
| OMIM = 167410
| ECnumber = 
| Homologene = 55665
| MGIid = 97491
| GeneAtlas_image1 = PBB_GE_PAX7_208060_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0006916 |text = anti-apoptosis}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0007367 |text = segment polarity determination}} {{GNF_GO|id=GO:0009653 |text = anatomical structure morphogenesis}}  
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5081
    | Hs_Ensembl = ENSG00000009709
    | Hs_RefseqProtein = NP_002575
    | Hs_RefseqmRNA = NM_002584
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 18830087
    | Hs_GenLoc_end = 18935219
    | Hs_Uniprot = P23759
    | Mm_EntrezGene = 18509
    | Mm_Ensembl = ENSMUSG00000028736
    | Mm_RefseqmRNA = NM_011039
    | Mm_RefseqProtein = NP_035169
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 4
    | Mm_GenLoc_start = 139010410
    | Mm_GenLoc_end = 139105044
    | Mm_Uniprot = Q7TPG3
  }}
}}
'''Paired box gene 7''', also known as '''PAX7''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PAX7 paired box gene 7| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5081| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
Pax7 is a transcription factor that plays a role in [[myogenesis]] through regulation of muscle precursor cells proliferation. It can bind to DNA as an heterodimer with PAX3. Also interacts with PAXBP1; the interaction links PAX7 to a WDR5-containing histone methyltransferase complex By similarity. Interacts with DAXX too.<ref>http://www.uniprot.org/uniprot/P23759</ref>
{{PBB_Summary
| section_title =
| summary_text = This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth.  The specific function of the paired box gene 7 is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma.  Alternative splicing in this gene has produced two known products but the biological significance of the variants is unknown.<ref name="entrez">{{cite web | title = Entrez Gene: PAX7 paired box gene 7| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5081| accessdate = }}</ref>
}}


==See also==
PAX7 functions as a marker for a rare subset of [[spermatogonial stem cells]], specifically a sub set of A<sub>single</sub> spermatogonia.<ref name=":0">{{Cite journal|last=Aloisio|first=Gina M.|last2=Nakada|first2=Yuji|last3=Saatcioglu|first3=Hatice D.|last4=Peña|first4=Christopher G.|last5=Baker|first5=Michael D.|last6=Tarnawa|first6=Edward D.|last7=Mukherjee|first7=Jishnu|last8=Manjunath|first8=Hema|last9=Bugde|first9=Abhijit|date=2014-09-02|title=PAX7 expression defines germline stem cells in the adult testis|journal=The Journal of Clinical Investigation|volume=124|issue=9|pages=3929–3944|doi=10.1172/JCI75943|issn=0021-9738|pmc=4153705|pmid=25133429}}</ref> These PAX7<sup>+</sup> spermatogonia are rare in adult [[Testicle|testis]] but are much more prevalent in newborns, making up 28% of [[germ cell]]s in neonate testis.<ref name=":0" /> Unlike PAX7<sup>+</sup> [[Myosatellite cell|muscle satellite cells]], PAX7<sup>+</sup> spermatogonia rapidly proliferate and are not quiescent.<ref name=":0" /><ref>{{Cite journal|last=Kumar|first=T. Rajendra|date=2014-10-01|title=The quest for male germline stem cell markers: PAX7 gets ID’d|journal=The Journal of Clinical Investigation|volume=124|issue=10|pages=4219–4222|doi=10.1172/JCI77926|issn=0021-9738|pmc=4191048|pmid=25157826}}</ref> PAX7<sup>+</sup> spermatogonia are able to give rise to all stages of [[spermatogenesis]] and produce motile [[sperm]].<ref name=":0" /> However, PAX7 is not required for spermatogenesis, as mice without PAX7<sup>+</sup> spermatogonia show no deficits in fertility.<ref name=":0" />
 
PAX7 may also function in the recovery in spermatogenesis. Unlike other spermatogonia, PAX7<sup>+</sup> spermatogonia are resistant to [[Radiation therapy|radiation]] and [[chemotherapy]].<ref name=":0" /> The surviving PAX7<sup>+</sup> spermatogonia are able to increase in number following these therapies and differentiate into the other forms of spermatogonia that did not survive.<ref name=":0" /> Additionally, mice lacking PAX7 had delayed recovery of spermatogenesis following exposure to [[busulfan]] when compared to control mice.<ref name=":0" />
 
== Clinical significance ==
Pax proteins play critical roles during fetal development and cancer growth. The specific function of the paired box gene 7 is unknown but speculated to involve tumor suppression since fusion of this gene with a [[fork head domain|forkhead domain]] family member has been associated with [[alveolar rhabdomyosarcoma]].  Alternative splicing in this gene has produced two known products but the biological significance of the variants is unknown.<ref name="entrez"/> Animal studies show that mutant mice have malformation of maxilla and the nose.<ref name="pmid8631261">{{cite journal | vauthors = Mansouri A, Stoykova A, Torres M, Gruss P | title = Dysgenesis of cephalic neural crest derivatives in Pax7-/- mutant mice | journal = Development | volume = 122 | issue = 3 | pages = 831–8 | date = March 1996 | pmid = 8631261 | doi =  }}</ref>
 
== See also ==
* [[Pax genes]]
* [[Pax genes]]
{{clear}}


==References==
== References ==
{{reflist|2}}
{{reflist|33em}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin|33em}}
{{PBB_Further_reading
* {{cite journal | vauthors = Blake J, Ziman MR | title = Aberrant PAX3 and PAX7 expression. A link to the metastatic potential of embryonal rhabdomyosarcoma and cutaneous malignant melanoma? | journal = Histology and Histopathology | volume = 18 | issue = 2 | pages = 529–39 | date = April 2003 | pmid = 12647804 | doi =  }}
| citations =
* {{cite journal | vauthors = Burri M, Tromvoukis Y, Bopp D, Frigerio G, Noll M | title = Conservation of the paired domain in metazoans and its structure in three isolated human genes | journal = The EMBO Journal | volume = 8 | issue = 4 | pages = 1183–90 | date = April 1989 | pmid = 2501086 | pmc = 400932 | doi =  }}
*{{cite journal | author=Blake J, Ziman MR |title=Aberrant PAX3 and PAX7 expression. A link to the metastatic potential of embryonal rhabdomyosarcoma and cutaneous malignant melanoma? |journal=Histol. Histopathol. |volume=18 |issue= 2 |pages= 529-39 |year= 2003 |pmid= 12647804 |doi=  }}
* {{cite journal | vauthors = Schäfer BW, Czerny T, Bernasconi M, Genini M, Busslinger M | title = Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes | journal = Nucleic Acids Research | volume = 22 | issue = 22 | pages = 4574–82 | date = November 1994 | pmid = 7527137 | pmc = 308503 | doi = 10.1093/nar/22.22.4574 }}
*{{cite journal | author=Burri M, Tromvoukis Y, Bopp D, ''et al.'' |title=Conservation of the paired domain in metazoans and its structure in three isolated human genes. |journal=EMBO J. |volume=8 |issue= 4 |pages= 1183-90 |year= 1989 |pmid= 2501086 |doi=  }}
* {{cite journal | vauthors = Shapiro DN, Sublett JE, Li B, Valentine MB, Morris SW, Noll M | title = The gene for PAX7, a member of the paired-box-containing genes, is localized on human chromosome arm 1p36 | journal = Genomics | volume = 17 | issue = 3 | pages = 767–9 | date = September 1993 | pmid = 7902328 | doi = 10.1006/geno.1993.1404 }}
*{{cite journal | author=Schäfer BW, Czerny T, Bernasconi M, ''et al.'' |title=Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes. |journal=Nucleic Acids Res. |volume=22 |issue= 22 |pages= 4574-82 |year= 1995 |pmid= 7527137 |doi= }}
* {{cite journal | vauthors = Cross SH, Charlton JA, Nan X, Bird AP | title = Purification of CpG islands using a methylated DNA binding column | journal = Nature Genetics | volume = 6 | issue = 3 | pages = 236–44 | date = March 1994 | pmid = 8012384 | doi = 10.1038/ng0394-236 }}
*{{cite journal | author=Shapiro DN, Sublett JE, Li B, ''et al.'' |title=The gene for PAX7, a member of the paired-box-containing genes, is localized on human chromosome arm 1p36. |journal=Genomics |volume=17 |issue= 3 |pages= 767-9 |year= 1993 |pmid= 7902328 |doi= 10.1006/geno.1993.1404 }}
* {{cite journal | vauthors = Schäfer BW, Mattei MG | title = The human paired domain gene PAX7 (Hup1) maps to chromosome 1p35-1p36.2 | journal = Genomics | volume = 17 | issue = 1 | pages = 249–51 | date = July 1993 | pmid = 8104868 | doi = 10.1006/geno.1993.1315 }}
*{{cite journal | author=Stapleton P, Weith A, Urbánek P, ''et al.'' |title=Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9. |journal=Nat. Genet. |volume=3 |issue= 4 |pages= 292-8 |year= 1995 |pmid= 7981748 |doi= 10.1038/ng0493-292 }}
* {{cite journal | vauthors = Barr FG, Nauta LE, Davis RJ, Schäfer BW, Nycum LM, Biegel JA | title = In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma | journal = Human Molecular Genetics | volume = 5 | issue = 1 | pages = 15–21 | date = Jan 1996 | pmid = 8789435 | doi = 10.1093/hmg/5.1.15 }}
*{{cite journal  | author=Cross SH, Charlton JA, Nan X, Bird AP |title=Purification of CpG islands using a methylated DNA binding column. |journal=Nat. Genet. |volume=6 |issue= 3 |pages= 236-44 |year= 1994 |pmid= 8012384 |doi= 10.1038/ng0394-236 }}
* {{cite journal | vauthors = Vorobyov E, Mertsalov I, Dockhorn-Dworniczak B, Dworniczak B, Horst J | title = The genomic organization and the full coding region of the human PAX7 gene | journal = Genomics | volume = 45 | issue = 1 | pages = 168–74 | date = October 1997 | pmid = 9339373 | doi = 10.1006/geno.1997.4915 }}
*{{cite journal | author=Schäfer BW, Mattei MG |title=The human paired domain gene PAX7 (Hup1) maps to chromosome 1p35-1p36.2. |journal=Genomics |volume=17 |issue= 1 |pages= 249-51 |year= 1993 |pmid= 8104868 |doi= 10.1006/geno.1993.1315 }}
* {{cite journal | vauthors = 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 = Nature Genetics | volume = 20 | issue = 1 | pages = 74–7 | date = September 1998 | pmid = 9731536 | doi = 10.1038/1739 }}
*{{cite journal | author=Pilz AJ, Povey S, Gruss P, Abbott CM |title=Mapping of the human homologs of the murine paired-box-containing genes. |journal=Mamm. Genome |volume=4 |issue= 2 |pages= 78-82 |year= 1993 |pmid= 8431641 |doi=  }}
* {{cite journal | vauthors = Margue CM, Bernasconi M, Barr FG, Schäfer BW | title = Transcriptional modulation of the anti-apoptotic protein BCL-XL by the paired box transcription factors PAX3 and PAX3/FKHR | journal = Oncogene | volume = 19 | issue = 25 | pages = 2921–9 | date = June 2000 | pmid = 10871843 | doi = 10.1038/sj.onc.1203607 }}
*{{cite journal  | author=Barr FG, Nauta LE, Davis RJ, ''et al.'' |title=In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma. |journal=Hum. Mol. Genet. |volume=5 |issue= 1 |pages= 15-21 |year= 1996 |pmid= 8789435 |doi= }}
* {{cite journal | vauthors = Kondrashov AV, Pospelov VA | title = [In vitro modelling of the interactions between the promoter and enhancer complexes] | journal = Tsitologiia | volume = 43 | issue = 8 | pages = 764–71 | year = 2002 | pmid = 11601392 | doi =  }}
*{{cite journal | author=Vorobyov E, Mertsalov I, Dockhorn-Dworniczak B, ''et al.'' |title=The genomic organization and the full coding region of the human PAX7 gene. |journal=Genomics |volume=45 |issue= 1 |pages= 168-74 |year= 1997 |pmid= 9339373 |doi= 10.1006/geno.1997.4915 }}
* {{cite journal | vauthors = Sorensen PH, Lynch JC, Qualman SJ, Tirabosco R, Lim JF, Maurer HM, Bridge JA, Crist WM, Triche TJ, Barr FG | title = PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group | journal = Journal of Clinical Oncology | volume = 20 | issue = 11 | pages = 2672–9 | date = June 2002 | pmid = 12039929 | doi = 10.1200/JCO.2002.03.137 }}
*{{cite journal | author=Magnaghi P, Roberts C, Lorain S, ''et al.'' |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 |pmid= 9731536 |doi= 10.1038/1739 }}
* {{cite journal | vauthors = Syagailo YV, Okladnova O, Reimer E, Grässle M, Mössner R, Gattenlöhner S, Marx A, Meyer J, Lesch KP | title = Structural and functional characterization of the human PAX7 5'-flanking regulatory region | journal = Gene | volume = 294 | issue = 1-2 | pages = 259–68 | date = July 2002 | pmid = 12234688 | doi = 10.1016/S0378-1119(02)00798-9 }}
*{{cite journal | author=Margue CM, Bernasconi M, Barr FG, Schäfer BW |title=Transcriptional modulation of the anti-apoptotic protein BCL-XL by the paired box transcription factors PAX3 and PAX3/FKHR. |journal=Oncogene |volume=19 |issue= 25 |pages= 2921-9 |year= 2000 |pmid= 10871843 |doi= 10.1038/sj.onc.1203607 }}
* {{cite journal | vauthors = Tiffin N, Williams RD, Shipley J, Pritchard-Jones K | title = PAX7 expression in embryonal rhabdomyosarcoma suggests an origin in muscle satellite cells | journal = British Journal of Cancer | volume = 89 | issue = 2 | pages = 327–32 | date = July 2003 | pmid = 12865925 | pmc = 2394255 | doi = 10.1038/sj.bjc.6601040 }}
*{{cite journal | author=Kondrashov AV, Pospelov VA |title=[In vitro modelling of the interactions between the promoter and enhancer complexes] |journal=Tsitologiia |volume=43 |issue= 8 |pages= 764-71 |year= 2002 |pmid= 11601392 |doi=  }}
* {{cite journal | vauthors = Tomescu O, Xia SJ, Strezlecki D, Bennicelli JL, Ginsberg J, Pawel B, Barr FG | title = Inducible short-term and stable long-term cell culture systems reveal that the PAX3-FKHR fusion oncoprotein regulates CXCR4, PAX3, and PAX7 expression | journal = Laboratory Investigation | volume = 84 | issue = 8 | pages = 1060–70 | date = August 2004 | pmid = 15184910 | doi = 10.1038/labinvest.3700125 }}
*{{cite journal | author=Sorensen PH, Lynch JC, Qualman SJ, ''et al.'' |title=PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group. |journal=J. Clin. Oncol. |volume=20 |issue= 11 |pages= 2672-9 |year= 2002 |pmid= 12039929 |doi= }}
* {{cite journal | vauthors = Vorobyov E, Horst J | title = Expression of two protein isoforms of PAX7 is controlled by competing cleavage-polyadenylation and splicing | journal = Gene | volume = 342 | issue = 1 | pages = 107–12 | date = November 2004 | pmid = 15527970 | doi = 10.1016/j.gene.2004.07.030 }}
*{{cite journal | author=Syagailo YV, Okladnova O, Reimer E, ''et al.'' |title=Structural and functional characterization of the human PAX7 5'-flanking regulatory region. |journal=Gene |volume=294 |issue= 1-2 |pages= 259-68 |year= 2003 |pmid= 12234688 |doi= }}
*{{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 | author=Tiffin N, Williams RD, Shipley J, Pritchard-Jones K |title=PAX7 expression in embryonal rhabdomyosarcoma suggests an origin in muscle satellite cells. |journal=Br. J. Cancer |volume=89 |issue= 2 |pages= 327-32 |year= 2003 |pmid= 12865925 |doi= 10.1038/sj.bjc.6601040 }}
*{{cite journal | author=Tomescu O, Xia SJ, Strezlecki D, ''et al.'' |title=Inducible short-term and stable long-term cell culture systems reveal that the PAX3-FKHR fusion oncoprotein regulates CXCR4, PAX3, and PAX7 expression. |journal=Lab. Invest. |volume=84 |issue= 8 |pages= 1060-70 |year= 2004 |pmid= 15184910 |doi= 10.1038/labinvest.3700125 }}
*{{cite journal | author=Vorobyov E, Horst J |title=Expression of two protein isoforms of PAX7 is controlled by competing cleavage-polyadenylation and splicing. |journal=Gene |volume=342 |issue= 1 |pages= 107-12 |year= 2005 |pmid= 15527970 |doi= 10.1016/j.gene.2004.07.030 }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
* {{MeshName|PAX7+protein,+human}}
* {{MeshName|PAX7+protein,+human}}
* {{UCSC genome browser|PAX7}}
* {{UCSC gene details|PAX7}}


{{NLM content}}
{{NLM content}}
{{protein-stub}}
 
{{Transcription factors}}
{{Transcription factors|g3}}
{{Use dmy dates|date=April 2017}}
 
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{WikiDoc Sources}}

Revision as of 02:02, 27 October 2017

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Identifiers
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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
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Wikidata
View/Edit Human

Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene.[1][2][3]

Function

Pax-7 plays a role in neural crest development and gastrulation, and it is an important factor in the expression of neural crest markers such as Slug, Sox9, Sox10 and HNK-1.[4] PAX7 is expressed in the palatal shelf of the maxilla, Meckel's cartilage, mesencephalon, nasal cavity, nasal epithelium, nasal capsule and pons.

Pax7 is a transcription factor that plays a role in myogenesis through regulation of muscle precursor cells proliferation. It can bind to DNA as an heterodimer with PAX3. Also interacts with PAXBP1; the interaction links PAX7 to a WDR5-containing histone methyltransferase complex By similarity. Interacts with DAXX too.[5]

PAX7 functions as a marker for a rare subset of spermatogonial stem cells, specifically a sub set of Asingle spermatogonia.[6] These PAX7+ spermatogonia are rare in adult testis but are much more prevalent in newborns, making up 28% of germ cells in neonate testis.[6] Unlike PAX7+ muscle satellite cells, PAX7+ spermatogonia rapidly proliferate and are not quiescent.[6][7] PAX7+ spermatogonia are able to give rise to all stages of spermatogenesis and produce motile sperm.[6] However, PAX7 is not required for spermatogenesis, as mice without PAX7+ spermatogonia show no deficits in fertility.[6]

PAX7 may also function in the recovery in spermatogenesis. Unlike other spermatogonia, PAX7+ spermatogonia are resistant to radiation and chemotherapy.[6] The surviving PAX7+ spermatogonia are able to increase in number following these therapies and differentiate into the other forms of spermatogonia that did not survive.[6] Additionally, mice lacking PAX7 had delayed recovery of spermatogenesis following exposure to busulfan when compared to control mice.[6]

Clinical significance

Pax proteins play critical roles during fetal development and cancer growth. The specific function of the paired box gene 7 is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Alternative splicing in this gene has produced two known products but the biological significance of the variants is unknown.[3] Animal studies show that mutant mice have malformation of maxilla and the nose.[8]

See also

References

  1. ↑ Stapleton P, Weith A, Urbánek P, Kozmik Z, Busslinger M (April 1993). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nature Genetics. 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748.
  2. ↑ Pilz AJ, Povey S, Gruss P, Abbott CM (March 1993). "Mapping of the human homologs of the murine paired-box-containing genes". Mammalian Genome. 4 (2): 78–82. doi:10.1007/BF00290430. PMID 8431641.
  3. ↑ 3.0 3.1 "Entrez Gene: PAX7 paired box gene 7".
  4. ↑ Basch ML, Bronner-Fraser M, García-Castro MI (May 2006). "Specification of the neural crest occurs during gastrulation and requires Pax7". Nature. 441 (7090): 218–22. doi:10.1038/nature04684. PMID 16688176.
  5. ↑ http://www.uniprot.org/uniprot/P23759
  6. ↑ 6.0 6.1 6.2 6.3 6.4 6.5 6.6 6.7 Aloisio, Gina M.; Nakada, Yuji; Saatcioglu, Hatice D.; Peña, Christopher G.; Baker, Michael D.; Tarnawa, Edward D.; Mukherjee, Jishnu; Manjunath, Hema; Bugde, Abhijit (2014-09-02). "PAX7 expression defines germline stem cells in the adult testis". The Journal of Clinical Investigation. 124 (9): 3929–3944. doi:10.1172/JCI75943. ISSN 0021-9738. PMC 4153705. PMID 25133429.
  7. ↑ Kumar, T. Rajendra (2014-10-01). "The quest for male germline stem cell markers: PAX7 gets ID'd". The Journal of Clinical Investigation. 124 (10): 4219–4222. doi:10.1172/JCI77926. ISSN 0021-9738. PMC 4191048. PMID 25157826.
  8. ↑ Mansouri A, Stoykova A, Torres M, Gruss P (March 1996). "Dysgenesis of cephalic neural crest derivatives in Pax7-/- mutant mice". Development. 122 (3): 831–8. PMID 8631261.

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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