PAX7

PAX7
Identifiers
Aliases	PAX7, HUP1, PAX7B, RMS2, Pax7, paired box 7, MYOSCO
External IDs	OMIM: 167410 MGI: 97491 HomoloGene: 55665 GeneCards: PAX7
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p36.13 Start 18,630,846 bp[1] End 18,748,866 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 D3|4 70.83 cM Start 139,464,373 bp[2] End 139,560,839 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle prefrontal cortex skeletal muscle tissue Brodmann area 9 cingulate gyrus superior frontal gyrus substantia nigra hypothalamus hippocampus proper amygdala Top expressed in superior colliculus somite dorsal tegmental nucleus urethra pretectal area main bronchus pituitary gland lateral nasal prominence tongue extraocular muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding DNA binding DNA-binding transcription factor activity RNA polymerase II general transcription initiation factor activity DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process positive regulation of myoblast proliferation regulation of cell fate commitment chromatin remodeling regulation of transcription, DNA-templated spinal cord association neuron differentiation positive regulation of histone methylation anatomical structure morphogenesis muscle organ development negative regulation of apoptotic process transcription, DNA-templated embryonic skeletal system development multicellular organism development cartilage development skeletal muscle tissue regeneration muscle tissue morphogenesis regulation of gene expression neuron fate commitment skeletal muscle satellite cell commitment dorsal/ventral neural tube patterning regulation of protein binding skeletal muscle tissue development positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II regulation of DNA binding Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5081 18509 Ensembl ENSG00000009709 ENSMUSG00000028736 UniProt P23759 P47239 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 4: 139.46 – 139.56 Mb PubMed search [3] [4]
Wikidata
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Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene.^[5][6][7]

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.^[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 A_single 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

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

• Pax genes

References

Further reading

External links

• PAX7+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• PAX7 human gene location in the UCSC Genome Browser.
• PAX7 human gene details in the UCSC Genome Browser.

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