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Studies of interactions between proteins causingautosomal recessive congenital ichthyosis and theeffect of their mutations
2017 (English)Independent thesis Basic level (professional degree), 10 credits / 15 HE creditsStudent thesis
Abstract [en]

Autosomal recessive congenital ichthyosis (ARCI) is caused by mutations in over 10 genesand seriously injures the barrier function of the skin which effects the patients drastically. Inthis project, the aim was to reach one step further into learning the function of one of thesegenes, NIPAL4, and hopefully to design a model of the patients cells with the goal of nothaving to obtain biopsies from the patients. Protein colocalization was studied by In situProximity Ligation Assay (is PLA) to study protein interactions between NIPAL4 and otherARCI causative proteins and colocalization analysis of transfected cells was performed in theattempt of creating a model. Our results are suggesting that in one of the four tested proteininteractions using is PLA, the combination of NIPAL4 and PNPLA1, showed a majorreduction in signals per cell compared to the control cells. This might indicate a relocation ofthe mutated proteins in ARCI even though one cannot say if it is a sign of protein interactionsince is PLA is only able to indicate if the proteins collocated or not. For the transfected cells,it is hard to say anything about the outcome of NIPAL4 together with PNPLA1 in comparisonwith is PLA since the PNPLA1-vector used for the transfection lacked parts of the N-terminal,which contain the active site. A plasmid containing the correct splice-variant of PNPLA1 willbe transfected further on. Further studies and optimization of the methods will hopefully leadto learning about the functions of NIPAL4 and the creation of a successful model of ARCIcells.

Place, publisher, year, edition, pages
2017.
Keywords [en]
NIPAL4, Proximity Ligation Assay, keratinocytes, mutagenesis, transfection
National Category
Biomedical Laboratory Science/Technology
Identifiers
URN: urn:nbn:se:uu:diva-349200OAI: oai:DiVA.org:uu-349200DiVA, id: diva2:1199899
Educational program
Biomedical Laboratory Science Programme; Biomedical Laboratory Science Programme
Examiners
Available from: 2018-04-23 Created: 2018-04-23 Last updated: 2018-04-23Bibliographically approved

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