Sökning: "nonhomologous end-joining"

Visar resultat 1 - 5 av 10 avhandlingar innehållade orden nonhomologous end-joining.

  1. 1. Characterization of Budding Yeast Nonhomologous End-Joining at DNA Double-Strand Breaks and Telomeres

    Författare :Sidney Carter; Stefan Åström; Ed Louis; Stockholms universitet; []
    Nyckelord :DNA repair; nonhomologous end-joining; double-strand break; Developmental Biology; miljömedicinsk utvecklingsbiologi;

    Sammanfattning : The yeast K. lactis efficiently integrates DNA by illegitimate recombination (IR). IR was completely dependent upon nonhomologous end-joining (NHEJ). In contrast to S. LÄS MER

  3. 2. Genomic rearrangements at the cause of three genetic disorders in man

    Författare :Kristina Lagerstedt; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mucopolysaccharidosis type II MPS II ; The Hunter syndrome; Incontinentia pigmenti IP ; Blepharophimosis; ptosis; epicanthus inversus syndrome BPES ; mutational analysis; nonhomologous end joining NHEJ ; homologous recombination HR ; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : Genomic rearrangements are a common cause of genetic disorders in man. This thesis describes the analysis of genomic rearrangements observed in patients with the Hunter syndrome (MPS II), incontinentia pigmenti (IP) and the Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). MPS II is an X-linked recessive lysosomal storage disorder. LÄS MER

  4. 3. Silencing and DNA double-strand break repair in budding yeast

    Författare :Andreas Kegel; Stefan Åström; Stephan Marcand; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Silencing; Reb1; DSB; NHEJ; Nej1; illegitimate recombination; yeast; Developmental biology; Utvecklingsbiologi;

    Sammanfattning : Transcriptional silencing that makes large chromosomal domains inaccessible for the transcriptional apparatus is nucleated at DNA elements called silencers. In K.lactis a 102bp HMLα silencer was defined revealing three distinct protein-binding regions (A, B, and C) that were required for silencing of HMLα. LÄS MER

  5. 4. Functional analysis of ATM with relevance for primary immunodeficiency and tumor formation

    Författare :Aleksi Lähdesmäki; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Ataxia-telangiectasia is a rare autosomal recessive disorder characterized by cerebellar degeneration with ataxia, ocular and cutaneous telangiectasias, radiosensitivity, chromosomal instability, immunodeficiency, and cancer predisposition in both patients and heterozygous carriers of the gene. The gene responsible for the disorder, ATM, has been identified as a member of a family of phosphatidylinositol 3-kinaserelated genes and is one of the master controllers of the networks that are involved in cell cycle control and response to DNA damage. LÄS MER

  7. 5. Role of DNA repair in class switch recombination and somatic hypermutation

    Författare :Likun Du; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Class switch recombination (CSR) and somatic hypermutation (SHM), occurring in the germinal center, are two important processes for B cell development. Both are initiated by activation-induced cytidine deaminase (AID), through deamination of the C residues in the variable and switch regions of the immunoglobulin locus, resulting in either in single stranded or double stranded DNA breaks. LÄS MER