The origins and implications of Aluternative splicing

Ten percent of the human genome is composed of highly repetitive DNA sequences called Alu elements. It has recently been found that at least 5% of all human alternative exons are derived from Alu elements. Moreover, single nucleotide mutations can convert either alternative or otherwise silent Alu e...

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Bibliographic Details
Published in:Trends in genetics 2004, Vol.20 (1), p.1-4
Main Authors: Kreahling, Jenny, Graveley, Brenton R
Format: Article
Language:English
Subjects:
Alternative Splicing
Alu Elements
Animals
Base Sequence
Biological and medical sciences
Evolution, Molecular
Exons
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Humans
Mice
Molecular and cellular biology
Mutation
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Summary:Ten percent of the human genome is composed of highly repetitive DNA sequences called Alu elements. It has recently been found that at least 5% of all human alternative exons are derived from Alu elements. Moreover, single nucleotide mutations can convert either alternative or otherwise silent Alu elements into constitutive exons and this can lead to the development of human disease. These results provide new insights into the function and dangers of ‘junk DNA’ in the human genome.
ISSN:0168-9525
DOI:10.1016/j.tig.2003.11.001