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PAX7

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PAX7
Identifiers
AliasesPAX7, HUP1, PAX7B, RMS2, Pax7, paired box 7, MYOSCO
External IDsOMIM: 167410; MGI: 97491; HomoloGene: 55665; GeneCards: PAX7; OMA:PAX7 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_013945
NM_001135254
NM_002584

NM_011039

RefSeq (protein)

NP_001128726
NP_002575
NP_039236

NP_035169

Location (UCSC)Chr 1: 18.63 – 18.75 MbChr 4: 139.46 – 139.56 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene.[5][6][7]

Function

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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.[8] 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.[9]

PAX7 functions as a marker for a rare subset of spermatogonial stem cells, specifically a sub set of Asingle spermatogonia.[10] These PAX7+ spermatogonia are rare in adult testis but are much more prevalent in newborns, making up 28% of germ cells in neonate testis.[10] Unlike PAX7+ muscle satellite cells, PAX7+ spermatogonia rapidly proliferate and are not quiescent.[10][11] PAX7+ spermatogonia are able to give rise to all stages of spermatogenesis and produce motile sperm.[10] However, PAX7 is not required for spermatogenesis, as mice without PAX7+ spermatogonia show no deficits in fertility.[10]

PAX7 may also function in the recovery in spermatogenesis. Unlike other spermatogonia, PAX7+ spermatogonia are resistant to radiation and chemotherapy.[10] 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.[10] Additionally, mice lacking PAX7 had delayed recovery of spermatogenesis following exposure to busulfan when compared to control mice.[10]

Clinical significance

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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.[7] Animal studies show that mutant mice have malformation of maxilla and the nose.[12]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000009709Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028736Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. S2CID 21338655.
  6. ^ 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. S2CID 30845070.
  7. ^ a b "Entrez Gene: PAX7 paired box gene 7".
  8. ^ 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. Bibcode:2006Natur.441..218B. doi:10.1038/nature04684. PMID 16688176. S2CID 4418753.
  9. ^ "PAX7 - Paired box protein Pax-7 - Homo sapiens (Human) - PAX7 gene & protein".
  10. ^ a b c d e f g h Aloisio GM, Nakada Y, Saatcioglu HD, Peña CG, Baker MD, Tarnawa ED, et al. (September 2014). "PAX7 expression defines germline stem cells in the adult testis". The Journal of Clinical Investigation. 124 (9): 3929–3944. doi:10.1172/JCI75943. PMC 4153705. PMID 25133429.
  11. ^ Kumar TR (October 2014). "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. PMC 4191048. PMID 25157826.
  12. ^ 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. doi:10.1242/dev.122.3.831. hdl:11858/00-001M-0000-0013-01BC-0. PMID 8631261.

Further reading

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