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Naturally Occurring Polymers—Animals
Published in Charles E. Carraher, Carraher's Polymer Chemistry, 2017
Repeats can be divided into five classes. First, transposon-derived repeats, some of which have been briefly dealt with before. About 45% of our genome is derived from transposable elements. It is possible that some of the other “unique” DNA may also be derived from ancient transposable element copies that we have not yet recognized. Second, partially or inactive retroposed copies of cellular genes called processed pseudogenes. Third, short, simple repeating sequences such as AAAAAA, CACACACACA, etc. Fourth, short, segmental duplications that have been copied from one region of the genome into another region. These sequences are typically 10,000–300,000 base pairs long (10–300 kb). Fifth, blocks of tandemly repeated sequences.
Glossary of scientific and technical terms in bioengineering and biological engineering
Published in Megh R. Goyal, Scientific and Technical Terms in Bioengineering and Biological Engineering, 2018
Pseudogene refers to an incomplete or mutated copy of a gene which is not transcribed because it lacks a continuous open reading frame. Those that lack introns are called processed pseudogenes and are most likely cDNA copies synthesized from mRNA by reverse transcriptase
The New Zealand Parkinson’s progression programme
Published in Journal of the Royal Society of New Zealand, 2023
Michael R. MacAskill, Toni L. Pitcher, Tracy R. Melzer, Daniel J. Myall, Kyla-Louise Horne, Reza Shoorangiz, Mustafa M. Almuqbel, Leslie Livingston, Sophie Grenfell, Maddie J. Pascoe, Ethan T. Marshall, Steven Marsh, Sarah E. Perry, Wassilios G. Meissner, Catherine Theys, Campbell J. Le Heron, Ross J. Keenan, John C. Dalrymple-Alford, Tim J. Anderson
Biosampling commenced in 2012, with collection of peripheral blood for DNA extraction from the then-current 215 participants. From 2016, a new round of biosampling included non-fasting plasma, serum, and urine, with follow-ups beginning in August 2020 to allow for longitudinal analysis. By August 2021, initial samples had been given by 312 participants. Biosampling is not an internal capability of NZBRI and was enabled through collaborations with the local Cancer Society Tissue Bank for sample processing and storage, and geneticist Prof. Martin Kennedy for DNA-based analyses. The Kennedy lab pioneered the use of a nanopore technique as a high-throughput method to identify known and novel variants of the glucocerebrosidase beta (GBA) gene (Graham et al. 2020). Variants within this gene are the most common genetic susceptibility in Parkinson’s but it is technically challenging to sequence, due to the presence of a pseudogene. Approximately 9% of our Parkinson’s sample had at least one disease-specific mutation in the GBA gene, consistent with expectations from predominantly European populations. Further investigations of GBA are underway, which is exciting because there are potential therapeutic interventions that can be targeted at this specific sub-population.