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SUMMARY:The mutational landscape of human tissues and the exceptional evol
 ution of the male germline - Dr Raheleh Rahbari (Wellcome Sanger Institute
 )
DTSTART;VALUE=DATE-TIME:20250508T120000
DTEND;VALUE=DATE-TIME:20250508T130000
UID:https://talks.ox.ac.uk/talks/id/ea936cfd-fa31-41a1-a143-2f772b7a85ff/
DESCRIPTION:The human body accumulates somatic mutations throughout life\,
  shaped by diverse mutational processes\, environmental exposures\, and ti
 ssue-specific dynamics. Using highly accurate single-molecule sequencing (
 NanoSeq)\, we have mapped the mutational landscape across over 50 human ti
 ssue types\, revealing striking variability in mutation burden\, mutationa
 l signatures\, and clonal structure. While most somatic tissues accumulate
  mutations through both endogenous and exogenous processes\, the male germ
 line emerges as an evolutionary outlier. Spermatogonial stem cells exhibit
  the lowest mutation rates observed in any dividing human cell\, accumulat
 ing just 2-4 single base substitutions per year\, despite their lifelong p
 roliferation.\n\nIn this talk\, Dr Rahbari will present insights from thei
 r pan tissue analysis\, with a focus on the unique features of the germlin
 e. She will discuss how its mutational restraint\, signature spectrum\, an
 d evidence of positive selection distinguish it from somatic tissues\, and
  explore the evolutionary pressures likely acting on the germline to prese
 rve reproductive fidelity. Finally\, she will discuss how rare exceptions\
 , such as germline hypermutation\, reveal vulnerabilities in this otherwis
 e tightly constrained system\, with important implications for heritable d
 isease risk.\nSpeakers:\nDr Raheleh Rahbari (Wellcome Sanger Institute)
LOCATION:MRC Weatherall Institute of Molecular Medicine (Seminar Room)\, H
 eadington OX3 9DS
TZID:Europe/London
URL:https://talks.ox.ac.uk/talks/id/ea936cfd-fa31-41a1-a143-2f772b7a85ff/
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DESCRIPTION:Talk:The mutational landscape of human tissues and the excepti
 onal evolution of the male germline - Dr Raheleh Rahbari (Wellcome Sanger 
 Institute)
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