A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human α2-globin gene

Varda Oron-Karni, Dvora Filon, Deborah Rund, Ariella Oppenheim*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

31 Scopus citations

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 languageEnglish
Pages (from-to)881-885
Number of pages5
JournalHuman Molecular Genetics
Volume6
Issue number6
DOIs
StatePublished - Jun 1997

Fingerprint

Dive into the research topics of 'A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human α2-globin gene'. Together they form a unique fingerprint.

Cite this