Abstract
A novel mechanism generating short deletion/insertions is described based on a mutation in the human α2-globin gene. A deletion of 9 bp (codons 39-41) is replaced by an eight nucleotide insertion, duplicating the adjacent downstream sequence. We propose that the mutation arose by slipped strand mispairing (SSM), creating a single-stranded loop, followed by DNA elongation, strand breathing and the formation of a mismatch bubble. An extensive literature search has revealed six additional deletion/insertion mutations in humans in which the inserted nucleotides come from the same DNA strand. Our model explains all six mutations, suggesting that rearrangement of a mismatch loop or bubble during DNA replication may be not uncommon.
Original language | English |
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Pages (from-to) | 881-885 |
Number of pages | 5 |
Journal | Human Molecular Genetics |
Volume | 6 |
Issue number | 6 |
DOIs | |
State | Published - Jun 1997 |