Alternativ splicing av pre-mRNA ger upphov till proteindiversitet. Histonmodifieringar kopplas till den alternativa splicingens reglering genom adaptorsystem som overfor den epigenetiska informationen direkt till splicingfaktorerna. De cis- agerande RNA- elementen pa exoner och introner med tillhorande trans- reglerande splicingfaktorer paverkas darfor direkt av specifika histonmodifieringar. En sammankopplande integrerad modell over en rad DNA- baserade processer foreslas. Denna komplexa modell ger en bild av interaktioner och paverkan mellan dessa delar.

This review article presents the splicing process during messenger RNA maturation and how it is regulated by different Cis-regulatory RNA-sequence elements and splicing factors. A more detailed description of the process alternative splicing and its importance to the function of genes from the model organism Arabidopsis thaliana is also given. A single eukaryotic gene can by the process alternative splicing (AS) give rise to a number of functionally mature mRNA-molecules, which in turn encodes for structurally and/or functionally different proteins. During the course of evolution, the process alternative splicing has thus shown to be effective in increasing transcriptome and proteome diversity of most eukaryotic organisms. This suggests therefore that the dominant theory in molecular biology, a gene encodes for a protein, needs to be corrected.

Exoner är de sekvenser i DNA vilka rymmer koden för proteiner i människan och i alla andra organismer. Intronerna, vilka utgör utrymmet mellan exoner, består av ickekodande sekvenser och kontrollelement. Exoner tillhörande en gen måste inte alltid inkluderas i den slutliga mRNA produkten, alternativ splicing tillåter exkludering av vissa sekvenser och gör att en gen kan ha mer än en mRNA produkt, därigenom kan en gen koda för flera olika proteiner. Alternativ splicing är ett fält som snabbt utvecklas och dess relevans för många sjukdomar har blivit uppenbar. Detta arbete går igenom ett flertal av dessa sjukdomar för att sammanställa ny forskning och tydliggöra rollen av alternativ splicing i dem.

Alternativ splicing är en process som ger upphov till att olika mRNA-sekvenser bildas från en enda gen, vilket bidrar till en ökad proteindiversitet hos organismen. Olika mRNA-sekvenser kan uppstå eftersom att det förekommer olika varianter av alternativ splicing som även kan kombineras på flera olika sätt: cassette exon (inkludering/exkludering av exon), intron retention (intronet behålls), alternative 5´splice-site choice (olika 5´ splice sites kan väljas) och slutligen alternative 3´ splice-site choice (andra 3´ splice sites kan väljas). För att alternativ splicing ska äga rum i olika pre-mRNA måste den regleras av cis-reglerande element. De cis-reglerande elementen utgörs av fyra grupper: exonic splicing enhancers (ESE), exonic splicing silencers (ESS), intronic splicing enhancers (ISE) samt intronic splicing silencers (ISS). Som namnen förtäljer finns de antingen i exoner eller introner, där de interagerar med transagerande faktorer, SR-proteiner (aktiverare) eller hnRNPs (hämmare).

Alternative splicing is a process that partly rejects the common definition of a gene ? that one gene codes for one specific protein. By variable combination of coding regions (exons) and exclusion of non-coding regions (introns), formation of several different mRNA-transcripts, and consequently several different proteins, can derive from the same gene. Alternative splicing is an important condition for the development of complex life forms, but it is also a highly sensitive process and inaccurate splicing is the cause of approximately 15 % of mutations that cause genetic diseases. This article presents four genes, BRCA1, BRCA2, ER? and ER?, and inaccurate splicing of these genes increases the risk of developing cancer, particularly breast cancer and ovarian cancer.

We where asked to write a webapplication, with similar functionalityas an existing desktop application. The application can todayrecord sounds from a person, mix it together at the optimal place withanother, similar sound and play back the result.The application used mathematical calculation that the developerswhere not familiar with, therefore it was decided to focus on the partsthat involved recording and playing sound, to pave the way for anyfuture implementation.The follwing prototypes where implemneted:1. Read a sound clip from a file.2. Splicing of two sound clips at different points in the clips.3. Generate the sound of a guitar.The result of this evaluation is that web browsers today are notready for this type of application, but that there is potetial as soonas W3C have standardised the use of a microphone as a source to theexisting DSP functions..

This master thesis was carried out at Scania in Södertälje, Sweden. It investigates the possibility of changing a connector interface that is used when there is a need for splicing the wheel speed sensor and thereby determine the consequences.The problems that exist with the current connector interface occur during assembly, as more time is required to complete a connection in a reliable manner. A complete connection requires joining the male and female connector, insert the connection into a protective retainer and then strap a cable tie on each end of the retainer. This process makes it more time consuming and it requires 20-30 seconds to complete the connection. Solving this problem would save time and enable easier assembly, therefore resulting in economical benefits.This thesis was accomplished through discussions with different sections at Scania, studying available documentations, observations during assembly, writing a requirement specification and contacting suppliers.The aforementioned methods resulted in four connector suggestions, the DT and DTMH connector from Deutsch, MCON connector from TE connectivity and MLK connector from Kostal, each of them compliant with the set demands of the surrounding environment.