Attempts to detect retrotransposition and de novo deletion of Alus and other dispersed repeats at specific loci in the human genome
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Attempts to detect retrotransposition and de novo deletion of Alus and other dispersed repeats at specific loci in the human genomeFecha
2001-02Resumen
Dispersed repeat elements contribute to
genome instability by de novo insertion
and unequal recombination between
repeats. To study the dynamics of these
processes, we have developed single DNA
molecule approaches to detect de novo
insertions at a single locus and
Alu-mediated deletions at two different
loci in human genomic DNA. Validation
experiments showed these approaches
could detect insertions and deletions at
frequencies below 10(-6) per cell.
However, bulk analysis of germline
(sperm) and somatic DNA showed no
evidence for genuine mutant molecules,
placing an upper limit of insertion and
deletion rates of 2 x 10(-7) and 3 x
10(-7), respectively, in the individuals
tested. Such re-arrangements at these
loci therefore occur at a rate lower
than that detectable by the most
sensitive methods currently available.