Sökning: "chromosomal features"

Visar resultat 1 - 5 av 54 avhandlingar innehållade orden chromosomal features.

1. 1. Evolutionary genomics in Corvids : – From single nucleotides to structural variants

   Författare :Matthias H. Weissensteiner; Jochen B.W. Wolf; Manfred Grabherr; Kateryna M. Makova; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; evolutionary genetics; genomics; population genetics; selection; recombination; chromosomal features; colouration; insertion; deletion; inversion; crow; tandem repeat; transposable element; gene expression;

   Sammanfattning : Heritable genetic variation is the raw material of evolution and can occur in many different forms, from altering single nucleotides to rearranging stretches of millions at once. DNA mutations that result in phenotypic differences are the basis upon which natural selection can act, leading to a shift of the frequency of those mutations. LÄS MER

3. 2. Cytogenetic and molecular analysis of chromosomal rearrangements associated with neuropsychiatric disorders

   Författare :Dmitry Tentler; Niels Tommerup; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mental retardation; autism; Asperger syndrome; chromosomal rearrangement; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

   Sammanfattning : Genetic factors are important in the aetiology of neuropsychiatric disorders. Analysis of chromosomal abnormalities associated with these disorders may provide locus specific information for the identification of candidate genes and, subsequently, for our understanding of brain development and functioning. LÄS MER

4. 3. A Unified Multitude : Experimental Studies of Bacterial Chromosome Organization

   Författare :Eva Garmendia; Diarmaid Hughes; Linus Sandegren; John R. Roth; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; bacterial evolution; chromosome organization and structure; chromosomal inversions; EF-Tu; horizontal gene transfer; Biologi med inriktning mot mikrobiologi; Biology with specialization in Microbiology;

   Sammanfattning : Bacteria are many, old and varied; different bacterial species have been evolving for millions of years and show many disparate life-styles and types of metabolism. Nevertheless, some of the characteristics regarding how bacteria organize their chromosomes are relatively conserved, suggesting that they might be both ancient and important, and that selective pressures inhibit their modification. LÄS MER

5. 4. Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability

   Författare :Christian Wentzel; Ann-Charlotte Thuresson; Göran Annerén; Anita Rauch; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; intellectual disability; 22q11.2 duplication syndrome; 6q deletion; 6q duplication; 10p deletion; developmental delay; mental retardation; dysmorphic features; Medical Genetics; Medicinsk genetik;

   Sammanfattning : Intellectual disability (ID) affects approximately 1-3% of the population and is defined as having an IQ below 70 as well as a significant limitation in adaptive behavior.The implementation of chromosomal microarrays (CMA) into the field of clinical genetics has revolutionized the ability to find genetic aberrations responsible for different genetic disorders. LÄS MER

7. 5. Bioinformatic analyses of the structural and functional complexity in chromosomal interactomes

   Författare :Alejandro Fernandez Woodbridge; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Evolution requires information storage systems with different demands with respect to persistence. While the genome provides a mechanism for long term, static and accurate information storage, it is incapable of mediating adaptation to short term changes in the environment. LÄS MER