What does the knowledge of Von Hippel-Lindau (VHL) disease and genetics reveal about related evolution concepts?

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What does the knowledge of Von Hippel-Lindau (VHL) disease and genetics reveal about related evolution concepts?

Propagation

Inheritance

Autosomal Dominant Inheritance Pattern

50% for a parent to pass it to their child

Not Necessarily Harmful

Inheriting Germline Mutation

These might never manifest negative phenotypes

Second mutation required may not occur

Phenotypic manifestations may skip generations

Adequate life expectancy for reproduction

Females

Average of 48.4 years

Males

Average of 59.4 years

Doesn't always stop reproduction

Would allow for mutation to be passed down

Negative Phenotypic Manifestations

Caused by a mutation in VHL (a tumor suppressor) gene

Leads to VHL protein abnormalities

Protein Evolution

pVHL30 is conserved less

pVHL19 is conserved more

Associated with tumors in different organs

Tumor Phylogeny

Some parallel evolution observed

Early Truncal Events

Mutation in chromosome 3

Inactivation of the VHL gene

Evolution of Disease in Particular Organs

Renal Cysts and Carcinomas

May progress to clear cell renal cell carcinomas

Evolve further through additional genetic alterations

Leads to intra-tumour heterogeneity

Following evolutions occur after about 1 to 2 years

First progression after approximately 7 years

Brainstem Hemangioblastomas

Median evolution time of 1.5 years

Progress after 7 years

Cerebellar Hemangioblastomas

3.5-year median evolution time

In women

Pregnancy complications

Stop reproduction

Benign and cancerous tumors

Nature of Evolution

Tumors developed from a germline mutation

DNA Variance and Mutation

Impact

Not on sequence of evolving disabilities

Not on number of evolving disabilities

Convergent Evolution

Different tumors becoming similar as evolution occurs

Divergent Evolution

Requires loss of heterozygosity in chromosome 3p

Tracking Evolution

Done by detection in people

Comparative Genomic Hybridization tests

Polymerase Chain Reaction tests