PiggyBac Transposable Element Derived 5

PiggyBac Transposable Element Derived 5 is an enzyme that in humans is encoded by the PGBD5 gene.[5] PGBD5 is a DNA transposase related to the ancient PiggyBac transposase first identified in the cabbage looper moth, Trichoplusia ni.[6] The gene is believed to have been domesticated over 500 million years ago in the common ancestor of cephalochordates and vertebrates.[7] The putative catalytic triad of the protein composed of three aspartic acid residues is conserved among PGBD5-like genes through evolution,[8] and is distinct from other PiggyBac-like genes.[7] PGBD5 has been shown to be able to transpose DNA in a sequence-specific, cut-and-paste fashion.[8] PGBD5 has also been proposed to mediate site-specific DNA rearrangements in human tumors.[9]

PGBD5
Identifiers
AliasesPGBD5, piggyBac transposable element derived 5, PiggyBac Transposable Element Derived 5
External IDsOMIM: 616791 MGI: 2429955 HomoloGene: 11583 GeneCards: PGBD5
Orthologs
SpeciesHumanMouse
Entrez

79605

209966

Ensembl

ENSG00000177614

ENSMUSG00000050751

UniProt

Q8N414

D3YZI9

RefSeq (mRNA)

NM_024554
NM_001258311

NM_171824

RefSeq (protein)

NP_001245240

NP_741958

Location (UCSC)Chr 1: 230.31 – 230.43 MbChr 8: 125.1 – 125.17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Human PGBD5 can mobilize the insect PiggyBac transposons in human cell culture.[10]

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.[11]

Disease Associations

PGBD5 is expressed in the majority of human pediatric solid tumors.[12] It's upregulated in sporadic Creutzfeldt-Jakob disease.[13] 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.[14]

References
  1. GRCh38: Ensembl release 89: ENSG00000177614 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000050751 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "PGBD5 piggyBac transposable element derived 5 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 8 April 2017.
  6. Toman J (1979). "A course to pursue". Nursing Times. 75 (17): 694–695. PMID 255260.
  7. Pavelitz T, Gray LT, Padilla SL, Bailey AD, Weiner AM (November 2013). "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. doi:10.1186/1759-8753-4-23. PMC 3902484. PMID 24180413.
  8. Henssen AG, Henaff E, Jiang E, Eisenberg AR, Carson JR, Villasante CM, Ray M, Still E, Burns M, Gandara J, Feschotte C, Mason CE, Kentsis A (September 2015). "Genomic DNA transposition induced by human PGBD5". eLife. 4. doi:10.7554/eLife.10565. PMC 4625184. PMID 26406119.
  9. Henssen AG, Koche R, Zhuang J, Jiang E, Reed C, Eisenberg A, Still E, MacArthur IC, Rodríguez-Fos E, Gonzalez S, Puiggròs M, Blackford AN, Mason CE, de Stanchina E, Gönen M, Emde AK, Shah M, Arora K, Reeves C, Socci ND, Perlman E, Antonescu CR, Roberts CW, Steen H, Mullen E, Jackson SP, Torrents D, Weng Z, Armstrong SA, Kentsis A (July 2017). "PGBD5 promotes site-specific oncogenic mutations in human tumors". Nature Genetics. 49 (7): 1005–1014. doi:10.1038/ng.3866. PMC 5489359. PMID 28504702.
  10. Ivics, Zoltán (May 2016). "Endogenous Transposase Source in Human Cells Mobilizes piggyBac Transposons". Molecular Therapy. 24 (5): 851–854. doi:10.1038/mt.2016.76. PMC 4881781. PMID 27198853.
  11. Shao, Benjamin (May 2018). Effects of PiggyBac Transposable Element Derived 5 (PGBD5) in Cortical Tissue (BS thesis). University of Connecticut.
  12. Research, American Association for Cancer (2018-01-01). "The DNA Transposase PGBD5 Sensitizes Tumors to Inhibition of DNA Repair". Cancer Discovery. 8 (1): OF17. doi:10.1158/2159-8290.CD-RW2017-213. ISSN 2159-8274. PMID 29127084.
  13. Vastrad, Basavaraj; Vastrad, Chanabasayya; Kotturshetti, Iranna (2020-12-24). "Identification of potential key genes and pathway linked with sporadic Creutzfeldt-Jakob disease based on integrated bioinformatics analyses". medRxiv 10.1101/2020.12.21.20248688v1.
  14. Broce, Iris; Karch, Celeste M.; Wen, Natalie; Fan, Chun C.; Wang, Yunpeng; Tan, Chin Hong; Kouri, Naomi; Ross, Owen A.; Höglinger, Günter U.; Muller, Ulrich; Hardy, John (2018-01-09). "Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies". PLOS Medicine. 15 (1): e1002487. doi:10.1371/journal.pmed.1002487. ISSN 1549-1676. PMC 5760014. PMID 29315334.
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