Page 13 - PCC08

Selection‐mutation balance hypothesis
An explanation for reproductively lethal disorders?
“balance between genetic copying errors that turn normal alleles into harmful mutations, and selection eliminating these mutations”
Mutation Beneficial
Selection Drivers of evolution
Estimation of per generation mutation rate
Neutral
Harmful
Disease Reduced fecundity Elimination of alleles
 7.6x10‐9 to2.2x10‐8
= 50‐100 genetic errors (or de novo mutations) per genome per generation
Imagine that de novo mutations are important in disease...
... then the mutational target size determines the frequency of disease
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PRECONGRESS COURSE 08 I BARCELONA, SPAIN – 1 JULY 2018 13
Mutation Frequency target size of disorder