PiggyBac izvedeni prenosivi element 5 jest enzim koji je kod ljudi kodiran genom PGBD5 sa hromosoma 1 .[ 1] PGBD5 is a DNA transposase related to the ancient PiggyBac transposaza prci puta identificurana je kod kupudnog moljca, Trichoplusia ni .[ 2] Vjeruje se da je gen pripitomljen prije više od 500 miliona godina kod zajedničkog pretka glavonožaca i kičmenjaka .[ 3]
Dužina polipeptidnog lanca je 455 aminokiselina , a molekulska težina 51.642Da .[ 4]
10 20 30 40 50 MPDYRTRALF VQSTLGDSAG PELQLLSIVP GRDLQPSDSF TGPTRKMPPS ASAVDFFQLF VPDNVLKNMV VQTNMYAKKF QERFGSDGAW VEVTLTEMKA FLGYMISTSI SHCESVLSIW SGGFYSNRSL ALVMSQARFE KILKYFHVVA FRSSQTTHGL YKVQPFLDSL QNSFDSAFRP SQTQVLHEPL IDEDPVFIAT CTERELRKRK KRKFSLWVRQ CSSTGFIIQI YVHLKEGGGP DGLDALKNKP QLHSMVARSL CRNAAGKNYI IFTGPSITSL TLFEEFEKQG IYCCGLLRAR KSDCTGLPLS MLTNPATPPA RGQYQIKMKG NMSLICWYNK GHFRFLTNAY SPVQQGVIIK RKSGEIPCPL AVEAFAAHLS YICRYDDKYS KYFISHKPNK TWQQVFWFAI SIAINNAYIL YKMSDAYHVK RYSRAQFGER LVRELLGLED ASPTH
Pretpostavljena katalitska trijada proteina sastavljenog od tri asparaginskokiselinska ostatka, tokom evolucije, konzervirana je među genima sličnim PGBD5,[ 5] a razlikuje se od drugih gena sličnih PiggyBac-u.[ 3] PGBD5 has been shown to be able to transpose DNA in a sequence-specific, cut-and-paste fashion.[ 5] Također je predloženo da PGBD5 posreduje u preuređenju DNK , specifičnih za mjesto u ljudskim tumorima .[ 6]
Ljudski PGBD5 može mobilizirati transpozone insekata PiggyBac u kulturi ljudskih ćelija.[ 7]
U moždanom tkivu zrelih miševa, PGBD5 se nalazi prvenstveno u regijama olfaktornog bulbusa , hipokampusu i cerebelumu . U moždanom tkiva mišjih embriona , PGBD5 se nalazi ne samo u medijalnom paliju i pretponsnom istmusu, koji su područja mozga koja se razvojijaju u hipokampus i mali mozak već i u područjima u embrionskom dijelu mozga koji stvara hipotalamus i medulu u korteksnom tkivu.
PGBD5 je eksprimiran u većini dječijih solidnih tumora.[ 8] Ekspresija gena pojačana je kod sporadične Creutzfeldt-Jakobove bolesti.[ 9] PGBD5 je povezan s frontotemporalnom demencijom, gdje je najizraženiji u neuronima , zatim oliodendrocitima , zrelim astrocitima , fetusnim astrocitima, endotelnim ćelijama i potom u mikroglijama/makrofagima .[ 10]
^ "PGBD5 piggyBac transposable element derived 5 [Homo sapiens (human)] - Gene - NCBI" . www.ncbi.nlm.nih.gov . Pristupljeno 8. 4. 2017 . ^ Toman J (april 1979). "A course to pursue" . Nursing Times . 75 (17): 694–5. doi :10.1128/JVI.47.2.287-300.1983 . PMC 255260 . PMID 16789244 . ^ a b Pavelitz T, Gray LT, Padilla SL, Bailey AD, Weiner AM (novembar 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 . ^ "UniProt, Q8N414" (jezik: engleski). Pristupljeno 16. 12. 2021 . ^ a b 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 (septembar 2015). "Genomic DNA transposition induced by human PGBD5" . eLife . 4 . doi :10.7554/eLife.10565 . PMC 4625184 . PMID 26406119 . ^ 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 (juli 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 . ^ Ivics, Zoltán (maj 2016). "Endogenous Transposase Source in Human Cells Mobilizes piggyBac Transposons" . Molecular Therapy (jezik: engleski). 24 (5): 851–854. doi :10.1038/mt.2016.76 . PMC 4881781 . PMID 27198853 . ^ Research, American Association for Cancer (1. 1. 2018). "The DNA Transposase PGBD5 Sensitizes Tumors to Inhibition of DNA Repair" . Cancer Discovery (jezik: engleski). 8 (1): OF17–OF17. doi :10.1158/2159-8290.CD-RW2017-213 . ISSN 2159-8274 . PMID 29127084 . ^ Vastrad, Basavaraj; Vastrad, Chanabasayya; Kotturshetti, Iranna (24. 12. 2020). "Identification of potential key genes and pathway linked with sporadic Creutzfeldt-Jakob disease based on integrated bioinformatics analyses" . medRxiv (jezik: engleski): 2020.12.21.20248688. doi :10.1101/2020.12.21.20248688 . ^ 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 (9. 1. 2018). "Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies" . PLOS Medicine (jezik: engleski). 15 (1): e1002487. doi :10.1371/journal.pmed.1002487 . ISSN 1549-1676 . PMC 5760014 . PMID 29315334 .