Uloga gena foxp2 u razvoju mozga i evoluciji govora kod čovjeka

master's thesis

• Title (english): The role of foxp2 gene in the brain development and the evolution of language in humans
• Author: Marija Živaljić
• Mentor: Goran Sedmak (mentor)
• Committee member: Miloš Judaš (predsjednik povjerenstva)
• Committee member: Milan Radoš (član povjerenstva)
• Committee member: Goran Sedmak (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Physiology and Immunology); Zagreb
• Defense date and country: 2016-07-15, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Basic Medical Sciences; Neuroscience
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Basic Medical Sciences; Human Physiology
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Basic Medical Sciences; Immunology

Abstract

FOXP2 gen je transkripcijski faktor iz obitelji FOX gena zadužen za regulaciju ekspresije mnogih drugih gena u organizmu. Smješten je na dugom kraku 7. kromosoma. Gen je prvotno otkriven proučavanjem engleske obitelji KE kod koje je više od polovice članova iskazivalo poteškoće u kontroliranju pokreta usana, razvojne dispraksije i sveobuhvatni deficit govora i pisanja. Na temelju ovih nalaza pretpostavljeno je da gen FOXP2 ima važnu ulogu u razvoju jezika i govora kod čovjeka; da je FOXP2 „gen za govor“. ----- Detaljnom analizom sekvence DNA i proteina FOXP2 uočeno je da se ljudska varijanta proteina razlikuje od mišje u samo tri, a od ostalih primata u samo dvije aminokiseline, što čini ovaj gen jednim od najbolje očuvanih gena tijekom evolucije. Nadalje, utvrđeno je da su se ove promjene specifične za čovjeka pojavile relativno nedavno (unutar posljednjih 200,000 godina) tijekom evolucije čovjeka te da je gen FOXP2 s pozitivnom selekcijom tijekom ljudske evolucije prošao proces ubrzane evolucije kod čovjeka. ----- Analizom ekspresije FOXP2 gena utvrđeno je da je prisutan u strukturama bitnim za motorički sustav (motorička moždana kora, bazalni gangliji, mali mozak) i u strukturama bitnim za jezik i govor (Brocino područje za govor, gornja sljepoočna vijuga). Iako postoje mnogi dokazi da poremećaji FOXP2 gena dovode do poremećaja govora kod čovjeka, novija istraživanja sugeriraju da FOXP2 ima mnogo šire učinke na organizam te da poremećaji govora nastaju samo kao sekundarna posljedica mutacije gena.
Čini se da je osnovni problem povezivanja gena FOXP2 s razvojem govora u činjenici da se pokušava povezati multifunkcionalni gen s pleiotropnim učincima (mozak, pluća, crijeva) sa složenim fenotipom kao što je govor. Točna uloga gena FOXP2 u nastanku i razvoju govora do danas još uvijek nije poznata te je predmet mnogih znanstvenih istraživanja.

Abstract (english)

FOXP2 gene is a transcriptional factor belonging to FOX family of genes responsible for regulation of expression of many other genes. It is situated on the long arm of 7th chromosome.
The gene was first discovered during the study of English KE family of which more than half family members had difficulties with mouth control, developing dyspraxia and total speech and writing impairment. Based on these findings it was assumed that FOXP2 gene has a major role in the development of speech and language in humans making FOXP2 “a gene for speech”. ----- During detail analyses of the DNA sequence and the protein FOXP2 it was noted that human version of the protein differs from the mouse version in only 3 components, while the version of other primates differs from the human version in 2 components, which makes this gene very well preserved during evolution. Furthermore, it was proven that these human specific changes occurred relatively recently (over last 200,000 years) during human evolution, that FOXP2 is a gene with positive selection during human evolution and that it underwent a process of accelerated evolution in humans. ----- Analyses of the expression of FOXP2 gene brought evidences about its existence in structures which are an important part of the motoric system (motoric cortex, basal ganglia, cerebellum) and in the structures important for speech and language (Broca’s area and superior temporal gyrus). Although many evidences suggest that FOXP2 gene impairment leads to speech difficulties in humans, recent studies suggest that FOXP2 has a much wider effect and that the language impairment is only a secondary consequence of the mutation of this gene.
It seems that the core problem of establishing the connection between the FOXP2 gene with the development of speech is the fact that multifunctional gene with pleiotropic effect is trying to be connected with complex fenotype which speech is. The exact role of FOXP2 gene in the development of speech is not established yet and it still is in focus of many scientific studies.

• Keywords: gen FOXP2; razvoj govora; obitelj KE; verbalna dispraksija
• Keywords (english): FOXP2 gene; speech development; KE family; verbal dyspraxia
• Language: croatian
• URN:NBN: urn:nbn:hr:105:066471
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2017-06-16 08:09:28