Biology:PiggyBac Transposable Element Derived 5

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

PiggyBac Transposable Element Derived 5 is an enzyme that in humans is encoded by the PGBD5 gene.[1] PGBD5 is a DNA transposase related to the ancient PiggyBac transposase first identified in the cabbage looper moth, Trichoplusia ni.[2] The gene is believed to have been domesticated over 500 million years ago in the common ancestor of cephalochordates and vertebrates.[3] The putative catalytic triad of the protein composed of three aspartic acid residues is conserved among PGBD5-like genes through evolution,[4] and is distinct from other PiggyBac-like genes.[3] PGBD5 has been shown to be able to transpose DNA in a sequence-specific, cut-and-paste fashion.[4] PGBD5 has also been proposed to mediate site-specific DNA rearrangements in human tumors.[5]

Human PGBD5 can mobilize the insect PiggyBac transposons in human cell culture.[6]

Expression in the brain

In mature mice brain tissue PGBD5 is found primarily in regions of the olfactory bulb, hippocampus, and cerebellum. In embryonic mice brain tissue PGBD5 is found not only in the medial pallium and prepontine isthmus, which are embryonic brain areas that give rise to the development of the hippocampus and cerebellum but also in areas in the embryonic brain that give rise to the hypothalamus and medulla.[7][better source needed]

Disease Associations

PGBD5 is expressed in the majority of human pediatric solid tumors.[8] It's upregulated in sporadic Creutzfeldt-Jakob disease.[9] PGBD5 is associated with frontotemporal dementia, where it gets most expressed in neurons, followed by ogliodendrocytes, mature astrocytes, fetal astrocytes, endothelial cells and then microglia/macrophages.[10]

References

  1. ↑ "PGBD5 piggyBac transposable element derived 5 [Homo sapiens (human) - Gene - NCBI"]. https://www.ncbi.nlm.nih.gov/gene/79605. 
  2. ↑ "A course to pursue". Nursing Times 75 (17): 694–695. 1979. PMID 255260. 
  3. ↑ 3.0 3.1 "PGBD5: a neural-specific intron-containing piggyBac transposase domesticated over 500 million years ago and conserved from cephalochordates to humans". Mobile DNA 4 (1): 23. November 2013. doi:10.1186/1759-8753-4-23. PMID 24180413. 
  4. ↑ 4.0 4.1 "Genomic DNA transposition induced by human PGBD5". eLife 4. September 2015. doi:10.7554/eLife.10565. PMID 26406119. 
  5. ↑ "PGBD5 promotes site-specific oncogenic mutations in human tumors". Nature Genetics 49 (7): 1005–1014. July 2017. doi:10.1038/ng.3866. PMID 28504702. 
  6. ↑ Ivics, Zoltán (May 2016). "Endogenous Transposase Source in Human Cells Mobilizes piggyBac Transposons" (in en). Molecular Therapy 24 (5): 851–854. doi:10.1038/mt.2016.76. PMID 27198853. 
  7. ↑ Shao, Benjamin (May 2018). Effects of PiggyBac Transposable Element Derived 5 (PGBD5) in Cortical Tissue (BS thesis). University of Connecticut.
  8. ↑ Research, American Association for Cancer (2018-01-01). "The DNA Transposase PGBD5 Sensitizes Tumors to Inhibition of DNA Repair" (in en). Cancer Discovery 8 (1): OF17. doi:10.1158/2159-8290.CD-RW2017-213. ISSN 2159-8274. PMID 29127084. https://cancerdiscovery.aacrjournals.org/content/8/1/OF17. 
  9. ↑ Template:Cite medRxiv
  10. ↑ Broce, Iris; Karch, Celeste M.; Wen, Natalie; Fan, Chun C.; Wang, Yunpeng; Tan, Chin Hong; Kouri, Naomi; Ross, Owen A. et al. (2018-01-09). "Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies" (in en). PLOS Medicine 15 (1): e1002487. doi:10.1371/journal.pmed.1002487. ISSN 1549-1676. PMID 29315334. 



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