Year: 2013
Type: dissertation
Abstract: ! Despite the conserved functional role of centromeres within eukaryotic organisms, no regional mammalian centromere has yet to be fully sequenced and assembled due to the inability of sequencing technology to sequence and assemble highly repetitive regions of the genome. The work contained within this thesis presents the first sequenced mammalian centromere, tammar wallaby CEN1, which lacks satellite sequences, and is instead composed of 43.54 % interspersed retroelement sequences. The small size and interspersed pattern of repeats within the centromere made it possible to build and sequence a minimum tiling path spanning 1.62 Mb of centromere sequence. The assembly of the CEN1 supercontig allowed for the demonstration of the interplay between the centromeric DNA, RNA transcripts, and CENP-A, the epigenetic mark denoting the location of the active centromere. I have identified a functional sequence, HAL1-3_ME (a LINE1), within CEN1, which binds CENP-A, may contain the CENP-B box, and is transcribed into small and long non-coding RNA with a subset of transcripts associating with CENP-A. The sequence content, structure, and presence of actively transcribed genes within the 1.62Mb CEN1
Author: Laura Hall
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W12231053