Anne Goriely - Illumina

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Quantification of K650 FGFR3 mutations Sperm (n=78) Blood (n=8) Levels of TDII mutation Cumulative levels of all K650 codon mutations <strong>Goriely</strong> et al, Nat. Genet., 2009
TD mutations in benign skin tumours Seborrheic Keratoses Wide spectrum of FGFR3 mutations 80-100% of people over 50y Average 70 moles in people >75y S249C Y373C K650E R248C R248C R248C K650E R248C S249C G370C S371C Y373C K650E K650M S252W K650E K650T K650E S252W K650M K650M K650E K650M R248C Hafner et al, 2007, J. Inv. Derm 127 These „selfish mutations‟ produce „moles‟ in the testis that can develop into tumours
Page 1 and 2: Ageing men, selfish testes and pate
Page 3 and 4: “Paternal age-effect” mutations
Page 5 and 6: Human spermatogenesis and copy-erro
Page 7 and 8: Selection of mutant sequences at FG
Page 9 and 10: Estimated level (per million) Recon
Page 11 and 12: Copy-error hypothesis vs. selection
Page 13 and 14: Proportion on -112G Unequal distrib
Page 15 and 16: FGFR3 mutation in testicular tumour
Page 17 and 18: Clinical genetics of FGFR3 K650 cod
Page 19 and 20: Construction of the GAII libraries
Page 21: 3 lanes of 36-bp unidirectional GAI
Page 25 and 26: HRAS mutations in cancer and Costel
Page 27 and 28: Goriely et al., Nat Genet, 2009 Str
Page 29 and 30: Are PAE mutations the tip of the ic
Page 31: Thanks to… WIMM (Oxford) Ruth Han

Anne Goriely - Illumina

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