Dual serine/threonine and tyrosine protein kinase is an

enzyme Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different molecule ...

that in humans is encoded by the ''DSTYK''

gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...

. 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. In melanocytic cells RIPK5 gene expression may be regulated by

MITF Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the ''MITF'' gene. MITF is a basic helix-loop-helix leucine zipper transcription factor ...

. Mutations in this gene have been associated with

hereditary spastic paraplegia Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs. HSP is also known as hereditar ...

type 23.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 File:Diagram of HsInv0006 .png, left, 357x357px, "Diagram of HsInv0006 (orange bar) genomic region showing the effect of the inverted allele on the expression of neighboring genes in different tissues according to the GTEx data and the inversion tag SNP in Europeans associated to increased risk of Glaucoma" 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.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. 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.

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Further reading