The mobilisation of processed transcripts in germline and somatic tissues

Ewing, Adam D. (2017). The mobilisation of processed transcripts in germline and somatic tissues. In Gael Cristofari (Ed.), Human retrotransposons in health and disease (pp. 95-106) Cham, Switzerland: Springer. doi:10.1007/978-3-319-48344-3_4


Author Ewing, Adam D.
Title of chapter The mobilisation of processed transcripts in germline and somatic tissues
Title of book Human retrotransposons in health and disease
Place of Publication Cham, Switzerland
Publisher Springer
Publication Year 2017
Sub-type Research book chapter (original research)
DOI 10.1007/978-3-319-48344-3_4
Open Access Status Not yet assessed
ISBN 9783319483443
9783319483436
Editor Gael Cristofari
Chapter number 4
Start page 95
End page 106
Total pages 12
Total chapters 13
Collection year 2018
Language eng
Abstract/Summary Processed pseudogenes are a curious feature of genomes in higher organisms: copies of gene sequences without the associated introns or regulatory sequences. Annotation of assembled genomes has indicated many thousands of processed pseudogenes, and many subsequent studies have shown them to be highly important material for the evolution of new genes, suggesting that the term ‘pseudogene’ is often a misnomer. It has been shown that these copies arise through non-LTR retrotransposition mediated by LINE-1 elements which also mobilise a host of other sequences, and thus they are sometimes referred to as ‘gene retrocopies’ or ‘retrogenes’. Recent research has identified cases where novel gene retrocopies have consequences in terms of phenotypic variation and genetic disease, and multiple studies have surveyed the extent of gene retrocopy insertion polymorphism in humans and other species. Finally, in line with the biology of other retrotransposons, gene retrocopy insertions can exist as somatic mutations, suggesting an interesting though yet unproven mechanism for their occasional involvement in cancer etiology.
Keyword Gene duplication
Genomics
Pseudogene
Retrogene
Retrotransposition
Q-Index Code B1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Book Chapter
Collections: Mater Research Institute-UQ (MRI-UQ)
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