PAX7

From Wikipedia, the free encyclopedia
Jump to: navigation, search
PAX7
Identifiers
Aliases PAX7, HUP1, PAX7B, RMS2, Pax7, paired box 7
External IDs MGI: 97491 HomoloGene: 55665 GeneCards: PAX7
Gene location (Human)
Chromosome 1 (human)
Chr. Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for PAX7
Genomic location for PAX7
Band No data available Start 18,631,006 bp[1]
End 18,748,866 bp[1]
RNA expression pattern
PBB GE PAX7 208060 at fs.png
More reference expression data
Orthologs
Species Human Mouse
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 Mb Chr 1: 139.74 – 139.83 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Function[edit]

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[edit]

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[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000009709 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028736 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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. PMID 7981748. doi:10.1038/ng0493-292. 
  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. PMID 8431641. doi:10.1007/BF00290430. 
  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. PMID 16688176. doi:10.1038/nature04684. 
  9. ^ http://www.uniprot.org/uniprot/P23759
  10. ^ a b c d e f g h 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. ISSN 0021-9738. PMC 4153705Freely accessible. PMID 25133429. doi:10.1172/JCI75943. 
  11. ^ 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. ISSN 0021-9738. PMC 4191048Freely accessible. PMID 25157826. doi:10.1172/JCI77926. 
  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. PMID 8631261. 

Further reading[edit]

External links[edit]

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