diplomsko delo
Sabina Sladič Oblak (Author), Peter Dovč (Mentor), Peter Dovč (Thesis defence commission member), Minja Zorc (Thesis defence commission member), Polona Jamnik (Thesis defence commission member), Mojca Narat (Thesis defence commission member), Minja Zorc (Co-mentor)

Abstract

Motnje avtističnega spektra (MAS), so kompleksen fenotip v razvoju človeka, s specifičnimi posebnostmi v komunikaciji, socialni interakciji in s ponavljajočimi se vedenjskimi vzorci. Sindrom je heterogen, z vplivom tako okoljskih kot genetskih dejavnikov. Geni, povezani z motnjami avtističnega spektra, lahko služijo za razvoj in vitro modelov za MAS, identifikacijo MAS v celični nevrobiologiji ter zdravstveni diagnostiki, kot tudi biooznačevalci za zgodnejšo in natančnejšo detekcijo. Geni so urejeni v različnih internetnih zbirkah, izmed katerih smo za to nalogo izbrali znanstveno podprte in prosto dostopne vire, iz njih pa z metodami ločevanja po izbranih kriterijih, prišli do kandidatnega lokusa ANOS1. V literaturi je že dokazana povezava proteina anozmin-1 z VEFGR2 in njegov vpliv na nekatere signalne molekule v signalni poti VEGF. Nov aspekt predstavlja povezava koncentracije kalcija, z genom ANOS1, ki še ni opisana v literaturi. Sprememba koncentracije kalcija deluje na razvoj osrednjega živčevja in je tako povezana s pojavom MAS. Na osnovi CRISPR/Cas9 tehnologije, smo zasnovali celični model z astrociti za preučevanje vpliva gena ANOS1 na koncentracijo kalcija v VEGF signalni poti. Na osnovi pozitivnih rezultatov nameravamo celični model nadgraditi s kunčjim transgenim modelom.

Keywords

motnje avtističnega spektra;bioinformacijska orodja;gen ANOSI;sistem CRISPR/Cas9;VEGF signalna pot;astrociti;modelni organizem;

Data

Language: Slovenian
Year of publishing:
Typology: 2.11 - Undergraduate Thesis
Organization: UL BF - Biotechnical Faculty
Publisher: [S. Sladič Oblak]
UDC: 606:616.896:601.4:577.21:575.112(043.2)
COBISS: 32289795 Link will open in a new window
Views: 375
Downloads: 57
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Other data

Secondary language: English
Secondary title: Identification of candidate genome regions for autism spectrum disorder and example of transgene model construction
Secondary abstract: Autism spectrum disorders (ASD) are a complex developmental condition with abnormalities in communication, social interaction and repetitive behaviour. It is a heterogeneous phenotype, influenced by environmental and genetic factors. Genes associated with ASD can serve to develop ASD in vitro models, identify ASD specific parameters in cellular neurobiology and medical diagnostics as well as biomarkers for earlier and more accurate detection of ASD. Genes associated with ASD are collected in various internet resources from which ANOS1 gene was extracted using selection criteria defined in the research strategy. The interaction of the anosmin-1 protein with VEGFR2 and its effect on some signalling molecules in the VEGF signalling pathway, has already been demonstrated in the literature. We propose a new association of the ANOS1 gene with the concentration of calcium which was not documented yet. The change in calcium concentration affects the development of the central nervous system, having a possible effect on development of ASD. Based on CRISPR/Cas9 technology, we designed a model to study the effect of ANOS1 gene on calcium concentration in astrocytes in the VEGF signalling pathway. Based on these results, we plan to develop a transgenic rabbit model.
Secondary keywords: autism spectrum disorders;bioninformatics tools;gene ANOSI;CRISPR/Cas9 system;VEGF signalling pathway;astrocytes;model organism;
Type (COBISS): Bachelor thesis/paper
Study programme: 0
Embargo end date (OpenAIRE): 1970-01-01
Thesis comment: Univ. v Ljubljani, Biotehniška fak., Študij biotehnologije
Pages: VI, 21 str.
ID: 12029444