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- Title
A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human alpha2-globin gene.
- Authors
Oron-Karni, V; Filon, D; Rund, D; Oppenheim, A
- Abstract
A novel mechanism generating short deletion/insertions is described based on a mutation in the human alpha2-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.
- Publication
Human molecular genetics, 1997, Vol 6, Issue 6, p881
- ISSN
0964-6906
- Publication type
Journal Article
- DOI
10.1093/hmg/6.6.881