Sökning: "Exons genetics"

Visar resultat 1 - 5 av 24 avhandlingar innehållade orden Exons genetics.

1. 1. Studies of the Ribosomal Protein S19 in Erythropoiesis

   Författare :Hans Matsson; Niklas Dahl; Leif Carlsson; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; RPS19; Rps19; erythropoiesis; erythroblastopenia; Diamond-Blackfan; anemia; Genetik; Genetics; Genetik;

   Sammanfattning : Ribosomal proteins are components of the ribosome, the protein synthesis machinery. The ribosomal protein S19 gene (RPS19) is mutated in Diamond-Blackfan anemia, DBA, which is a rare congenital anemia with absence or reduction of erythroid precursors in bone marrow. In this thesis, the role of RPS19 in erythropoiesis is investigated. LÄS MER

3. 2. Aneuploidy compensatory mechanisms and genome-wide regulation of gene expression in Drosophila melanogaster

   Författare :Lina Lundberg; Jan Larsson; Brian Oliver; Umeå universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Genome-wide gene regulation; aneuploidy; buffering; HP1a; POF; SETDB1; Su var 3-9; MSL; roX; genetik; Genetics;

   Sammanfattning : Stimulation or repression of gene expression by genome-wide regulatory mechanisms is an important epigenetic regulatory function which can act to efficiently regulate larger regions or specific groups of genes, for example by compensating for loss or gain of chromosome copy numbers. In Drosophila melanogaster there are two known chromosome-wide regulatory systems; the MSL complex, which mediates dosage compensation of the single male X-chromosome and POF, which stimulates expression from the heterochromatic 4th chromosome. LÄS MER

4. 3. Analysis of the Gene and Protein Causing Best Macular Dystrophy

   Författare :Benjamin Bakall; Catharina Larsson; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; VMD2; bestrophin; macular degenration; mutation analysis; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

   Sammanfattning : Best macular dystrophy (BMD) is an autosomal dominant inherited eye disease with a juvenile onset. Accumulation of the pigment lipofuscin in the retinal pigment epithelium can later cause macular degeneration and loss of vision. LÄS MER

5. 4. 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

7. 5. Functional Significance of Multiple Poly(A) Polymerases (PAPs)

   Författare :Helena Nordvarg; Claire Moore; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; poly A polymerase; PAP; phosphorylation; isoforms; alternative splicing; kinetic parameters; hyperphosphorylation; regulation; Genetik; Poly A polymeras; PAP; fosforylering; isoformer; alternativ splitsning; kinetiska parametrar; reglering; Clinical genetics; Klinisk genetik; molekylär cellbiologi; Molecular Cellbiology;

   Sammanfattning : 3’ end cleavage and polyadenylation are important steps in the maturation of eukaryotic mRNAs. Poly(A) polymerase (PAP), the enzyme catalysing the addition of adenosine residues, exists in multiple isoforms. In this study the functional significance of multiple poly(A) polymerases have been investigated. LÄS MER