Anne Goriely - Illumina

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1999-2000: Looking at the Apert mutation levels directly in sperm DNA? • Can we find the Apert mutations in sperm? Levels anticipated to be around 1:100,000 (755C>G) • Why are the Apert mutations so „frequent‟? Is it a unique case?
Selection of mutant sequences at FGFR2 position 755 by MboI digestion MboI G A -112 MboI 755 755 Exon IIIa CGA TCG CCT CAC CGG Arg Ser Pro His Arg 251 252 253 254 255 MboI wt digestion: 543bp + 118bp Mutant: 661bp MboI-resistant fragment 755 TGG Trp Apert TAG Stop TTG Leu TCG Ser wt TTC TCT Phe Ser spike (GR) <strong>Goriely</strong> et al Science (2003)
Page 1 and 2: Ageing men, selfish testes and pate
Page 3 and 4: “Paternal age-effect” mutations
Page 5: Human spermatogenesis and copy-erro
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 and 22: 3 lanes of 36-bp unidirectional GAI
Page 23 and 24: TD mutations in benign skin tumours
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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