Hemochromatosis Evolution Task

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How does Hemochromatosis still exist?

Type 3 (TFR2 Related)

Transferrin receptor 2 gene (TFR2)

Chromosome 7

Type 2 (Juvenile hemochromatosis)

Autosomal Recessive Inheritance

Spontaneous Substitution Mutation

HFE gene

Both recessive alleles to be passed to children

Carriers of Hemochromatosis mutation are unaffected with no phenotypes of the disorder

Europe & European Descendants

Most Common in

Ancient Bog people of Ireland

Founder Affect

Immigration of Celtic People from Northern Spain

Viking invasions

Great Change in Allele Frequency of New Population

Increase in the number of carriers of Hemochromatosis syndrome in the Bog People population

Reason for increasing number of carriers

Irish Migrators/ Bog People create larger population numbers that are able to reproduce (middle aged)

Affects of Hemochromatosis only present later in life (around 50s)

Advancements in medicine & technology help people (including carriers) to live. Allowing carriers to reproduce with others risking the chance of mating with another carrier.

Increased fitness in Environment

More carriers in a small endogamous population leading to a greater chance of children inheriting Hemochromatosis

Ecological Isolation

The Bog People live in an isolated environment

Genetic Drift

Divergent Evolution

Rats, Horses, Dolphins and Humans are all mammals who descended from a common ancestor into new species

They all share the possibility of inheriting the HFE mutation or similar Phenotypes

Sexual Selection

Endogamy in small communities is prevalent

Common for preserve traditions and resources

Improves chance of mating success

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Hereditary (classic) Hemochromatosis

Most Commonly found in Humans

HFE Gene

Base Pair Substitution

Substitution of a change in the amino acids position from cysteine (C) to tyrosine (Y) as well as a histidine-to-aspartic acid substitution at amino acid position 63.

Hemochromatosis is a genetic condition primarily linked to mutations in the HFE gene, particularly on chromosome 6. This condition is notably prevalent in humans, especially among European descendants and ancient populations such as the bog people of Ireland.