Recurrent deletion of a region containing exon 24 of the RB1 gene caused by non-homologous recombination between a LINE-1HS and MER21B element

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Abstract
Mutations in the RB1 gene can cause retinoblastoma, a childhood tumour of the eye. We have searched for gross deletions in samples of constitutional and tumour DNA from patients with this tumour. Most of these samples had previously been screened for RB1 gene point mutations but with negative results. Using quantitative multiplex polymerase chain reaction (PCR)3 we identified a spectrum of gross deletions that was heterogeneous with respect to extent and location. In three patients, we found deletions in a region that contains exon 24 of the RB1 gene. Further analysis showed that the 5′ and 3′ deletion breakpoints of these three mutations are located close to each other in an L1HS and MER21B element, respectively.4 These two DNA elements belong to different classes of interspersed repetitive DNA. The regions surrounding the 5′ and 3′ breakpoints do not show any sequence similarity. However, they are localised at the borders of strong scaffold/matrix attachment elements that mark the position of recombinogenic DNA structures.

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