On GATAGATA and Other "Junk" in the Barren
Stretch of Genomic Desert
J.T. Epplen, W. Maueler, E.J.M. Santos
Cytogenetics and Cell Genetic,
80(1-4):75-82 (1998)
Abstract
(GATA)n and additional simple repeated DNA sequences
have long been known but functional analyses along
traditional research strategies have not yielded definitive
results. Therefore these elements are commonly regarded as
genomic "junk" although they represent assets for
innovative methodological approaches and especially for
speculations. While extensively using microsatellites for
genome mapping and genetic relationship analyses, it was
also realized that certain simple repeats can cause human
trinucleotide block expansion diseases. Hence these simple
repeat elements comprise an exceptional range of biological
meaning, i.e. from genetically absolutely neutral markers for
genome analysis, behavioral and population genetic studies
to dominant and invariably disease causing mutations with
complete penetrance. The quest into why there is so much
repetitive junk in recent genomes can be answered only in
part and sequentially, but sometimes - even after substantial
efforts - not for the given element.
