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Decoupling mutational processes in human germline
Содержание
- 1. Decoupling mutational processes in human germline
- 2. DNA and it’s functionDNA double stranded moleculeEach strand have directionDNA->RNA->Protein
- 3. Transcription and replicationDNA->RNADNA->DNA3`5`
- 4. Germline mutationsGoriely, Nat. Gen. 2016
- 5. Role of mutations in genetic diseaseKosmicki et al, Nature Genetics 2017
- 6. Germline mutations are induced by a mixture of mutational processesMutationalprocessesObserved mutationsMutationalspectra
- 7. Spatial variation in intensity of the mutational processes generates diverse mutational patterns
- 8. Extracting mutational processes from the spatial variationI#Regions#Signatures
- 9. Manifestation of strand dependent and independent mutational processes
- 10. Mutational asymmetry in genes Marteijn et al
- 11. Manifestation of strand dependent and independent mutational processesGenesMutations
- 12. What do we find?
- 13. Replication ProgramArneodo lab, Plos Comp 2012
- 14. What do we find
- 15. Process 7/8 have local bursts
- 16. Process 7/8 – maternal signatureGoldman*, Seplyarskiy*, Wong* et al, 2018 Nature GeneticsJónsson et al, 2017 Nature
- 17. We are able to predict genomic regions susceptible to maternal clusters
- 18. Process 7/8– maternal signatureGoldman*, Seplyarskiy*, Wong* et al, 2018 Nature Genetics
- 19. Process 7/8 asymmetric in respect to transcription
- 20. Process 7/8 asymmetric in respect to transcription
- 21. Mechanistic insights to maternal signatureGoldman*, Seplyarskiy*, Wong*
- 22. C>G mutations created by secondary mechanism (wrong
- 23. Third of maternal age effect localized in
- 24. Signatures 4 and 5 (maternal signatures) summaryMaternal
- 25. AcknowledgementsSignature extractionRuslan SoldatovShamil SunyaevSupervisionColaborators:J. Goldmann, P.Kharchenko, C. Gilissen, W. Wong TOPMed population working group
- 26. Скачать презентанцию
DNA and it’s functionDNA double stranded moleculeEach strand have directionDNA->RNA->Protein
Слайды и текст этой презентации
Слайд 1Decoupling mutational processes in human germline
Vladimir Seplyarskiy
Sunyaev lab
Department of
Biomedical Informatics
Слайд 6Germline mutations are induced by a mixture of mutational processes
Mutational
processes
Observed
mutations
Mutational
spectra
Слайд 7Spatial variation in intensity of the mutational processes generates diverse
mutational patterns
Слайд 10Mutational asymmetry in genes
Marteijn et al 2014, Nat. Rev
Mol. Cell. Bio
Hu et al, 2017 PNAS
Слайд 16Process 7/8 – maternal signature
Goldman*, Seplyarskiy*, Wong* et al, 2018
Nature Genetics
Jónsson et al, 2017 Nature
Слайд 21Mechanistic insights to maternal signature
Goldman*, Seplyarskiy*, Wong* et al, 2018
Nature Genetics
I was proven wrong
Marteijn et al 2014, Nat.
Rev Mol. Cell. Bio 
Слайд 22C>G mutations created by secondary mechanism (wrong already)
Clustered mutation contain
few C>G substitutions,
But started with different mutation type
Слайд 24Signatures 4 and 5 (maternal signatures) summary
Maternal signature sensitive to
the direction of transcription and replication (no evidence for DNA
breaks)Characteristic scale of the signature about 20Mb, but highest intensity achieved on non-transcribed strand of long genes
We find evidence for transcription associated mutagenesis
Maternal signature is by product of the activity of error-prone polymerase
Insights about maternal signature
Слайд 25Acknowledgements
Signature extraction
Ruslan Soldatov
Shamil Sunyaev
Supervision
Colaborators:
J. Goldmann, P.Kharchenko,
C. Gilissen, W. Wong
TOPMed population
working group
