The human genome was sequenced in 2000. The news broke as though we had just unravelled the mystery of human life. Yet, we still know very little.
AS3MT: gene coding for a protein that modifies arsenic and makes it less toxic. Adaptation to arsenic serves as a model for how organisms evolve to survive under toxic conditions.
Corresponding protein in UniProtKB/Swiss-Prot
ADORA2A: a gene that determines whether a person is highly or low sensitive to caffeine, meaning how much caffeine you should take before it has invigorating effects.
APOBEC3G: Gene involved in antiviral defense.
HMOX1: gene encoding a stress-sensitive enzyme involved in heme catabolism. Although the link between sickle cell anemia and resistance to malaria is well established, the underlying molecular mechanisms are still mysterious. It was thought that the protective effect was based on a reduction in the parasite load. In fact, it seems that this HMOX1 enzyme is more abundant in individuals with sickle cell disease: antioxidant molecules are produced in greater quantities, which could prevent the serious symptoms of malaria and allow a certain tolerance to this disease.
Corresponding protein in UniProtKB/Swiss-Prot
Publication Sickle hemoglobin confers tolerance to Plasmodium infection
CYB5R3: gene coding for a protein that is involved in the redox of iron atoms in hemoglobin. Variations in this gene are associated with hemoglobin that binds oxygen less efficiently. Carriers have bluish (cyanotic) skin.
Corresponding protein in UniProtKB/Swiss-Prot
SHANK3: This gene is associated with autism.
CYP2D6: This gene is involved in neutralising toxic products and certain drugs.
Corresponding protein in UniProtKB/Swiss-Prot
TEF: This gene may be involved in epilepsy. The gene was discovered by the cleaning staff while vacuuming the animal care facilities at the University of Geneva!
Prolune - snapshot: The PAR bZIP family
MB: This gene is involved in oxygen transport in our muscles.
Chromosome 11: HBB
CRYBA4/CRYBB2: These genes are involved in the lens structure of our eyes.
Corresponding protein in UniProtKB/Swiss-Prot
RTN4R: This gene hinders neuronal growth and helps them to branch out.
Protein Spotlight: Nerve regrowth: nipped by a no-go
Corresponding protein in UniProtKB/Swiss-Prot