Sökning: "nucleotide substitution"

Visar resultat 21 - 25 av 32 avhandlingar innehållade orden nucleotide substitution.

  1. 21. Genomic strategies towards the dissection of human complex disease

    Författare :Tesfai Emahazion; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mapping; complex disease; polymorphism; SNP; association analysis; Alzheimer s disease; oxidative phosphorylation; apoptosis; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : Complex diseases are caused by the activities of many genes acting in concert with environmental factors. A major challenge facing human genetic research is to unravel the genetic factors behind complex disorders. LÄS MER

  3. 22. Functional Studies of Genes Associated with Muscle Growth in Pigs and Hair Greying in Horses

    Författare :Lin Jiang; Leif Andersson; Kerstin Lindblad-Toh; Gerli Pielberg; Christopher Tuggle; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; QTN; muscle development; IGF2; ZBED6; RNA-seq; ChIP-seq; myoblasts; pancreatic beta cells; Grey horse; melanoma; MITF; Biologi med inriktning mot molekylär cellbiologi; Biology with specialization in Molecular Cell Biology;

    Sammanfattning : Domestic animals have become very different from their wild ancestors during domestication and animal breeding. This provides a good model to unravel the molecular mechanisms underlying phenotypic variation. In my thesis I have studied genes affecting two important traits, leanness in pigs and hair greying-associated melanoma in horses. LÄS MER

  4. 23. Pyrosequencing

    Författare :Samer Karamohamed; KTH; []
    Nyckelord :;

    Sammanfattning : Pyrosequencing is a method that can be used in almost allDNA sequencing applications. The method uses coupled reactionsof ATP sulfurylase and firefly luciferase to monitor theinorganic pyrophosphate (PPi) released during nucleotideincorporation onto a DNA primer. LÄS MER

  5. 24. Structure Function Relationships in Pyrimidine Degrading and Biocatalytic Enzymes, and Their Implications for Cancer Therapy and Green Chemistry

    Författare :Dirk Maurer; Doreen Dobritzsch; Mikael Widersten; Rikkert Wierenga; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; β-Ureidopropionase; Dihydropyrimidine Dehydrogenase; Alcohol Dehydrogenase; Pyrimidine catabolism; 5-Fluorouracil; CASTing; X-ray Crystallography;

    Sammanfattning : This thesis includes the work of two separate projects, studies on pyrimidine degrading enzymes and studies on in vitro evolved enzymes. The common denominator of both projects was the use of structural information to explain functional effects, observed in the studied biocatalysts. LÄS MER

  7. 25. Rates and patterns of genome evolution in Lepidoptera

    Författare :Karin Näsvall; Niclas Backström; Simon Martin; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Chromosomal rearrangements; karyotype evolution; recombination rate; Lepidoptera; genome structure; molecular evolution; Biology with specialization in Evolutionary Genetics; Biologi med inriktning mot evolutionär genetik;

    Sammanfattning : The evolutionary consequences of genome restructuring and chromosomal rearrangements can be significant, but the underlying mechanisms are poorly understood. This thesis explores the relationships between genome restructuring, recombination, and maintenance of genetic diversity in different butterfly species. LÄS MER