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- Table of Contents
Facts about Paired box protein Pax-1.
May play a significant role in the normal development of the vertebral column (By similarity). .
Human | |
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Gene Name: | PAX1 |
Uniprot: | P15863 |
Entrez: | 5075 |
Belongs to: |
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No superfamily |
Paired box protein Pax-1
Mass (kDA):
55.499 kDA
Human | |
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Location: | 20p11.22 |
Sequence: | 20; NC_000020.11 (21705659..21718486) |
Nucleus.
To better understand the role played by this protein in the development of different tissues and their functioning, the PAX1 marker is an excellent tool. Its applications are numerous and it is especially useful when it comes to studying the cellular processes involved in the process of aging. Here are some of the methods and applications of this marker.
Phylogenetic analysis of PAX family proteins using the MEGA6 program, using neighbor-joining method, shows that Mapax6a and Mapax6, are closely related. Mapax6a/Mapax6b are not related to other PAX proteins. Mapax6a and Mapax6b are clustered with the pax6a and pax6b proteins from zebrafish.
Reverse-transcription-PCR analysis revealed that Mapax6a and Mapax5 were first detected in the somite stage of the mouse embryo, and then acquired gonadal expression at a later stage. Both genes were also present in spermatids/testes and enriched spermatogonia/spermatocytes. These overlaps suggest that Mapax6a/Mapax6b may play similar roles in spermatogenesis.
Both types have conserved expression patterns. However, Pax6 is absent in other species. Mapax6a/Mapax6b both have similar sequences. However Mapax6a/Mapax3b contain additional regions of the genome not involved in DNA binding. Mapax6a as well as Mapax6b contain alternative exons, which makes them nearly identical. Mapax6a/Mapax6b are closely related to other species despite their differences in structure and sequence.
Mapax6a (and Mapax2b) are expressed in embryonic development. They can be found in the brain, the eye, and the brain. Mapax6b transcripts are first detected at the gastrula stage. The expression of Mapax6a was detected in the brain and eye of the developing embryos, and Mapax2a and Mapa2b were detected in the testis and ovary.
Pax6a & pax2b, although they are conserved highly, have distinct expression patterns in mammals and other animals. Mapax6a (found in both mammals and birds) and pax2b (found in mammals and birds) play different roles during embryogenesis. This gene may play a role during gametogenesis. This is an ongoing research project, and further studies will be required to confirm it.
The PAX1 gene is found in a wide range of human tissues including the testes. Its expression can be associated with the NCAD gene, which is a neoplastic. This gene is found in a large number testes and has been implicated for various types of cancers. It can identify cancer cells and it can also be used for the diagnosis of cervical diseases.
The transcription factors known as PAX genes play a key role in embryogenesis and development. Both PAX1 and PAX9 are expressed in the sclerotomal cells of vertebrates. They are essential for the development and pattern formation of the vertebral columns. Pax1 is silenced by methylation in ovarian and cervical cancers. A number of vertebral malformations can be caused by mutations in the PAX1 genes.
The detection and treatment of cervical cancer can be done by using the PAX1 markers. The marker has a higher methylation value in cervical carcinoma tissues than ZNF582 for the same tissue type. The PAX1-methylation value is associated with the transition between normal tissues and cervical cancer. Because PAX1 is associated with the progression from normal tissue to cervical cancer, it could be used to identify lesions that are likely to progress to cervical cancer. It was comparable to HPV16/18 and Cytology, but significantly more accurate that HPV markers in cervical carcinoma triage.
Multivariable logistic regression was used to identify possible predictors of cancer risk. We used HPV16/18 genotype and age as covariates and calculated odds ratios. We then compared PAX1m with ZNF582m for 3 outcomes: age, c-reactive protein level, and invasiveness of the glands. These analyses were done in order to validate the thresholds used for PAX1m or ZNF582m with respect to each of these outcomes.
This study showed that PAX1 expression was significantly higher in NP cells than it was in AC and AF cells. In NP cell, PAX1 was found be more sensitive to FOXF1 than it was to PAX1. When used with a panel NP markers that reflects NP cell physiology and ontogeny, the PAX1 marker will be highly sensitive.
The PAX1 and SOX1 methylation tests proved to be highly accurate. Both tests had AUC values 0.77 and 0.30 respectively. This indicates that both PAX1 methylation (and SOX1) tests are highly sensitive. They also have high power to rule high-risk cervical cancer in healthy women. If you are considering performing the tests, make sure to consult your doctor first.
These tests could become an auxiliary biomarker for screening for cervical cancer in the future. PAX1 methylation is a promising biomarker for cervical cancer detection, especially when used in combination with HPV DNA testing. Parallel testing of PAX1-methylation and HPVDNA has improved diagnostic accuracy. Although the results of these studies look promising, more research is needed in order to confirm them. The authors report no conflicts of interest and acknowledge that their work was supported by the National Clinical Key Specialty Construction Program of China.
Analyzing intervertebral discs post-mortem revealed that PAX1 is present in 100% of AC and all NP tissues. The AC tissues also express the PAX1 marker, while 60 percent of AC samples contain FOXF1. The HIF1a marker can be found in 100% of both AC and NP samples. These markers are associated low-grade degeneration, as shown by the results.
PMID: 2501086 by Burri M., et al. Conservation of the paired domain in metazoans and its structure in three isolated human genes.
PMID: 8863157 by Hol F.A., et al. PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.