作者: Kathleen A. Hill , Kelly D. Gonzalez , William A. Scaringe , Ji-Cheng Wang , Steve S. Sommer
DOI: 10.1002/HUMU.20260
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摘要: Microindels are unique, infrequent mutations that result in inserted and deleted sequences of different sizes (between one 50 nucleotides) at the same nucleotide position. Little is known about mutational mechanisms responsible for these mutations. From our database 6,016 independent somatic events lacI gene Big Blue® mice, we assembled 30 microindels (0.5%) analysis. with two nucleotides (1–2 microindels) accounted seven (23%) observed, remaining distributed among 21 other combinations insertion deletion sizes. A preferential occurrence 1–2 (20%) was also observed human germline transmitted Human Gene Mutation Database (HGMD). An examination sequence flanking mouse did not reveal obvious site specificity or associated secondary structure. detailed features typical pure microinsertion microdeletion events, but rather suggested a unique mechanism. The 1 bp microinsertions, insertions show distinct features. mechanism obviously simple combination events. dramatic enhancement requires explanation. We speculate certain error-prone polymerases may be both tissues germ cells. It estimated adult carries roughly 400 billion potential to predispose cancer. Hum Mutat 27(1), 55–61, 2006. © 2005 Wiley-Liss, Inc.