diplomsko delo
Luka Gnidovec (Author), Vera Župunski (Mentor)

Abstract

TDP-43 je RNA vezavni protein s številnimi pomembnimi funkcijami v vseh stopnjah procesiranja RNA. Pomembno vlogo igra tudi v patofiziologiji nekaterih nevrodegenerativnih bolezni, kot sta ALS in FTLD. Človeški gen, ki zapisuje za TDP-43, se imenuje TARDBP. Sestavljen je iz šestih eksonov in vmesnih intronov, po procesiranju pa lahko dobimo 8 različnih mRNA, od katerih ena zapisuje za TDP-43. TARDBP je evolucijsko precej ohranjen, kar kaže na pomembno funkcijo proteina TDP-43. Poleg gena TARDBP se v človeškem genomu nahaja še pet njegovih procesiranih psevdogenov. V diplomski nalogi smo proučili evolucijske odnose TDP-43 pri sesalcih. Evolucijsko drevo smo zgradili s pomočjo 66 zaporedij sesalskih ortologov mRNA TDP-43, saj so proteinska zaporedja preveč podobna. Ugotovili smo, da evolucija TDP-43 v veliki meri sovpada s privzeto filogenijo vrst, z nekaterimi izjemami. Poleg tega smo raziskali, kdaj v evoluciji je prišlo do nastanka procesiranih psevdogenov 1, 2, 3 in 8. Ugotovili smo, da so vsi ti psevdogeni ohranjeni pri človeku podobnih opicah in opicah starega sveta. Za psevdogen 1 lahko z zanesljivostjo trdimo, da je ohranjen tudi pri opicah novega sveta. To zelo verjetno drži tudi za psevdogen 2, medtem ko so pri psevdogenih 3 in 8 rezultati bolj nejasni.

Keywords

proteini;TDP-43;psevdogeni;evolucija;filogenetska analiza;amiotrofična lateralna skleroza;ALS;diplomska dela;

Data

Language: Slovenian
Year of publishing:
Typology: 2.11 - Undergraduate Thesis
Organization: UL FKKT - Faculty of Chemistry and Chemical Technology
Publisher: [L. Gnidovec]
UDC: 577.112(043.2)
COBISS: 32569091 Link will open in a new window
Views: 543
Downloads: 187
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Other data

Secondary language: English
Secondary title: Evolution of mammalian TDP-43 and its pseudogenes
Secondary abstract: TDP-43 is an RNA-binding protein involved in all stages of RNA processing. It also plays an important role in pathophysiology of some neurodegenerative diseases including ALS and FTLD. The human gene encoding TDP-43 is TARDBP. It consists of six exons and five introns. After processing, there are eight possible mRNA variants, one of which encodes for TDP-43. In addition to TARDBP, there are five processed TDP-43 pseudogenes in human genome. We examined the phylogenetic relationships of mammalian TDP-43 orthologues. The evolutionary tree was based on mRNA sequences because protein sequences are too similar. We concluded that TDP-43 phylogeny is mostly analogous to the evolutionary relationships of mammalian species with a few exceptions. In addition, we also studied when the human TDP-43 pseudogenes 1, 2, 3 and 8 emerged during evolution. We established that all these pseudogenes are present in Old world monkeys and Apes. Pseudogene 1 is also conserved in New world monkeys. The same is likely true for pseudogene 2, while analyses of pseudogene 3 and 8 give unclear information on the origin of these two pseudogenes.
Secondary keywords: phylogenetic analysis;pseudogenes;
Type (COBISS): Bachelor thesis/paper
Study programme: 1000371
Embargo end date (OpenAIRE): 1970-01-01
Thesis comment: Univ. v Ljubljani, Fak. za kemijo in kemijsko tehnologijo, UNI Biokemija
Pages: 37 str.
ID: 12033166