Biology:RIPK5
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Dual serine/threonine and tyrosine protein kinase is an enzyme that in humans is encoded by the DSTYK gene.[1][2]
This protein is also known as the Dusty protein kinase and the Receptor interacting protein 5 (RIP5).
This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. Multiple alternatively spliced transcript variants have been found, but the biological validity of some variants has not been determined.[2]
In melanocytic cells RIPK5 gene expression may be regulated by MITF.[3]
Mutations in this gene have been associated with hereditary spastic paraplegia type 23.[4]
It has also seen that DSTYK deletion causes pigmentation problems and high cell death after ultraviolet irradiation. In a study conducted by Giner-Delgado, Carla, et al.[6] it has been observed that the inversion of the first intron has been associated with changes in expression in the proximal genes and with an increase in the expression of DSTKY itself. Due to the deleterious effect caused by the absence of expression, the positive selection of this investment could explain its increase in the African population. They also noted that the investment has been linked to an increased risk of glaucoma in Europeans (which again shows the possible positive selection, since glaucoma is more common and severe in individuals of African descent.
References
- ↑ "RIP5 is a RIP-homologous inducer of cell death". Biochem Biophys Res Commun 319 (2): 298–303. Jun 2004. doi:10.1016/j.bbrc.2004.04.194. PMID 15178406.
- ↑ 2.0 2.1 "Entrez Gene: RIPK5 receptor interacting protein kinase 5". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25778.
- ↑ "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. 2008. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
- ↑ Lee JYW, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA (2017) Large intragenic deletion in DSTYK underlies autosomal-recessive complicated spastic paraparesis, SPG23. Am J Hum Genet 100(2):364-370
- ↑ Giner-Delgado, Carla, et al. "Evolutionary and functional impact of common polymorphic inversions in the human genome." Nature communications 10.1 (2019): 1-14.
- ↑ Giner-Delgado, C., Villatoro, S., Lerga-Jaso, J., Gayà-Vidal, M., Oliva, M., Castellano, D., ... & Olalde, I. (2019). Evolutionary and functional impact of common polymorphic inversions in the human genome. Nature communications, 10(1), 1-14.
Further reading
- "Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening". Genomics 23 (1): 42–50. 1995. doi:10.1006/geno.1994.1457. PMID 7829101.
- "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. 1997. doi:10.1101/gr.6.9.791. PMID 8889548.
- "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain". DNA Res. 4 (5): 345–9. 1998. doi:10.1093/dnares/4.5.345. PMID 9455484.
- "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. 2000. doi:10.1073/pnas.97.7.3491. PMID 10737800. Bibcode: 2000PNAS...97.3491D.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Dusty protein kinases: primary structure, gene evolution, tissue specific expression and unique features of the catalytic domain". Biochim. Biophys. Acta 1759 (11–12): 562–72. 2007. doi:10.1016/j.bbaexp.2006.10.004. PMID 17123648.
- "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. 2007. doi:10.1038/msb4100134. PMID 17353931.
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