Show simple item record

AuthorGoidts, Violainedc.contributor.author
Date of accession2016-03-14T13:40:40Zdc.date.accessioned
Available in OPARU since2016-03-14T13:40:40Zdc.date.available
Year of creation2006dc.date.created
AbstractComparative analysis of human and great ape genomes expose the full spectrum of genomic changes that accompanied human evolution. In particular the concomitant evaluation of divergence and diversity has the power to identify those genes or genomic regions that evolved under selective constraints during evolution and might be associated with human specialization. In order to identify copy number differences (CNDs) that occurred specifically in the human lineage, we performed interspecies aCGH including macaque, orang-utan, gorilla, chimpanzee and bonobo. By this, I was able to identify 14 sites of human specific CNDs and I could show that DNA copy number gains are not only important for gene dosage changes but that they are localized at sites of numerous large-scale rearrangements that occurred during human genome evolution. The presence of low copy repeats (LCRs) at the borders of human-specific pericentric inversions suggests their implication in mediating the respective rearrangements by allowing intrachromosomal homologous recombination between these repeats. Furthermore, the precise characterization of the breakpoints of the pericentric inversions of HSA 18 and of PTR XVI and GGO XVI allowed me to study the LCR content of the breakpoint regions of these rearrangements. I found that LCRs bordered each breakpoint, confirming the importance of segmental duplications in mediating evolutionary rearrangements. Moreover, I have determined that the pericentric inversions of PTR XVI and GGO XVI occurred twice independently during evolution verifying the instability of that region. In conclusion, my study showed that segmental duplications are frequently assigned to unstable genomic regions and to chromosomal breakpoints, emphasizing their role in determining both karyotypic evolution and genomic diversity in humans.dc.description.abstract
Languageendc.language.iso
PublisherUniversität Ulmdc.publisher
LicenseStandard (Fassung vom 03.05.2003)dc.rights
Link to license texthttps://oparu.uni-ulm.de/xmlui/license_v1dc.rights.uri
KeywordArrayCGHdc.subject
KeywordDuplicationdc.subject
KeywordLCRdc.subject
Dewey Decimal GroupDDC 570 / Life sciencesdc.subject.ddc
LCSHPrimatesdc.subject.lcsh
MeSHGenomedc.subject.mesh
MeSHGenomicsdc.subject.mesh
TitleIdentification of large-scale DNA copy number differences between human and non-human primate genomes and their role in mediating evolutionary rearrangementsdc.title
Resource typeDissertationdc.type
DOIhttp://dx.doi.org/10.18725/OPARU-688dc.identifier.doi
URNhttp://nbn-resolving.de/urn:nbn:de:bsz:289-vts-56317dc.identifier.urn
GNDEvolutiondc.subject.gnd
FacultyMedizinische Fakultätuulm.affiliationGeneral
Date of activation2006-06-28T22:32:40Zuulm.freischaltungVTS
Peer reviewneinuulm.peerReview
Shelfmark print versionZ: J-H 11.188 ; W: W-H 9.305uulm.shelfmark
DCMI TypeTextuulm.typeDCMI
VTS ID5631uulm.vtsID
CategoryPublikationenuulm.category
Bibliographyuulmuulm.bibliographie


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record