Comparison of expanded CAG repeat tracts in sperm and lymphocyte DNA from Machado Joseph disease and spinocerebellar ataxia type I patients

Maurer, Debra J.; Benzow, Kellie A.; Schut, Lawrence J.; Ranum, L; Livingston, Dennis

doi:10.1002/humu.1380110126

Cited by 1 publication

(1 citation statement)

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“…Strengthening this hypothesis, further analyses of intact fetus ovaries showed that oocytes contained expanded alleles (307). Similarly, expansions were detected in sperm DNA, but not in lymphocyte DNA, in patients affected by SCA1 (321).…”

Section: Trinucleotide Repeat Expansionsmentioning

confidence: 73%

Comparative Genomics and Molecular Dynamics of DNA Repeats in Eukaryotes

Richard

Kerrest

Dujon

2008

Microbiol Mol Biol Rev

485

411

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SUMMARY Repeated elements can be widely abundant in eukaryotic genomes, composing more than 50% of the human genome, for example. It is possible to classify repeated sequences into two large families, “tandem repeats” and “dispersed repeats.” Each of these two families can be itself divided into subfamilies. Dispersed repeats contain transposons, tRNA genes, and gene paralogues, whereas tandem repeats contain gene tandems, ribosomal DNA repeat arrays, and satellite DNA, itself subdivided into satellites, minisatellites, and microsatellites. Remarkably, the molecular mechanisms that create and propagate dispersed and tandem repeats are specific to each class and usually do not overlap. In the present review, we have chosen in the first section to describe the nature and distribution of dispersed and tandem repeats in eukaryotic genomes in the light of complete (or nearly complete) available genome sequences. In the second part, we focus on the molecular mechanisms responsible for the fast evolution of two specific classes of tandem repeats: minisatellites and microsatellites. Given that a growing number of human neurological disorders involve the expansion of a particular class of microsatellites, called trinucleotide repeats, a large part of the recent experimental work on microsatellites has focused on these particular repeats, and thus we also review the current knowledge in this area. Finally, we propose a unified definition for mini- and microsatellites that takes into account their biological properties and try to point out new directions that should be explored in a near future on our road to understanding the genetics of repeated sequences.

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Section: Trinucleotide Repeat Expansionsmentioning

confidence: 73%