Extensive Cryptic Variation in the Mutation Rate in the Human Genome
Event details
| Date | 12.03.2014 |
| Hour | 15:15 |
| Speaker |
Prof. Adam Eyre-Walker, University of Sussex, Brighton (UK) Bio: Adam Eyre-Walker was educated at Shrewsbury School, where Darwin was a student, Nottingham University and Edinburgh University, where he did his PhD with William G. Hill. He then did two post-doctoral research fellowships at Rutgers University, with Michael Bulmer and Brandom Gaut, before returning to the UK as a Royal Society University Research Fellow at the University of Sussex. He held his fellowship until 2004 when he became a Reader, before being promoted to Professor in 2005. |
| Location | |
| Category | Conferences - Seminars |
BIOENGINEERING SEMINAR
It is known that the mutation rate varies across a genome at various different scales, from differences between whole chromosomes to differences between adjacent sites. Variation at the single nucleotide level is known to be associated with context, such as the CpG effect, in which CG dinucleotides have 10-15 fold higher mutation rates than other sites. However, a few years ago we demonstrated that is an excess of sites that have single nucleotide polymorphisms in humans and chimpanzees, even when variation in the mutation rate due to context is taken into account. We showed that this excess was unlikely to be due to ancestral polymorphism, selection or sequencing artifacts and therefore concluded that the excess was due to context-free variation in the mutation rate. We have now concluded an analysis of de novo mutations in genes associated with Mendelian diseases. We again find evidence of variation in the mutation rate that cannot be explained in terms of simple context. Furthermore we estimate that the variation is very substantial; for a particular context we estimate that the mutation rate probably varies by more than 100-fold. The reasons for this variation however remain unclear.
It is known that the mutation rate varies across a genome at various different scales, from differences between whole chromosomes to differences between adjacent sites. Variation at the single nucleotide level is known to be associated with context, such as the CpG effect, in which CG dinucleotides have 10-15 fold higher mutation rates than other sites. However, a few years ago we demonstrated that is an excess of sites that have single nucleotide polymorphisms in humans and chimpanzees, even when variation in the mutation rate due to context is taken into account. We showed that this excess was unlikely to be due to ancestral polymorphism, selection or sequencing artifacts and therefore concluded that the excess was due to context-free variation in the mutation rate. We have now concluded an analysis of de novo mutations in genes associated with Mendelian diseases. We again find evidence of variation in the mutation rate that cannot be explained in terms of simple context. Furthermore we estimate that the variation is very substantial; for a particular context we estimate that the mutation rate probably varies by more than 100-fold. The reasons for this variation however remain unclear.
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Organizer
- Prof. Jeffrey Jensen