Examples of the Mechanisms of Evolution in Humans.pdf - Examples of the Mechanisms of Evolution in Humans Mutation 1 Faster rates of mutation in males

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Examples of the Mechanisms of Evolution in Humans Mutation: 1. Faster rates of mutation in males for some X-linked diseases (hemophilia, Lesch Nyhan syndrome): see Crow 1997 (focus on “Mutation Rates in Males and Females” 2. Higher mutation rate in humans compared to many other species with larger effective population size: see “ Human mutation rate a legacy from our past Gene Flow: 1. Globalization and its influence on changing phenotypes : see “ The Changing Face of America 2. Introgression of Neanderthal genes into the human genome : see “ Neanderthal genome shows evidence of early human interbreeding, inbreeding Genetic Drift: 1. Founder Effect of the Afrikaner population of South Africa being decedents from a small group of Dutch colonists and have a high incidence of Huntington’s Disease : see Founder Effect 2. High incidence of Ellis van Creveld syndrome in Pennsylvania Amish due to founder effect and small population size: see McKusick 2000 o What is Ellis-van Creveld syndrome ? 3. High incidence of Cartilage-hair hypoplasia (CHH) in Finnish peoples due to small population and regional isolation: see Mäkitie 1992 4. Higher incidence of Tay-Sachs disease among small isolated populations including Ashkenazi Jews, French Canadians of southeastern Quebec, and Old Order Amish of Pennsylvania: see Zlotogora 1994 5. Habsburg jaw in the German-Austrian ruling family due inbreeding (small population): see “ The Distinctive ‘Habsburg Jaw’ Was Likely the Result of the Royal Family’s Inbreeding Natural Selection: 1. Recessive diseases (aka “dominant phenotype advantage”) o Cystic fibrosis o Tay-Sachs disease o Phenylketonuria (PKU) 2. Do minant diseases (aka “recessive phenotype advantage”) o Marfan syndrome o Huntington’s disease o Polycystic kidney disease Can also be a recessive disease but its incidence is more rare

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