Captivate your students and cover a wide range of science topics with
the true story of California twins Noah and Alexis Beery, who have gene
variants that cause them to have life-threatening low levels of three
neurotransmitters. Whole genome sequencing in 2010 identified a mutation
in the gene that encodes the sepiapterin reductase enzyme, leading to a
molecular diagnosis and successful treatment.
This gene map presents the nucleotide sequence of the messenger RNA
encoding sepiapterin reductase - the enzyme that was shown to be
defective in Noah and Alexis Beery. The map documents the molecular
consequence of two different mutations in this gene that were
responsible for the neurotransmitter deficiencies experienced by the
Beery twins. Student maps can be used by individuals or small groups and
are available in sets of 1, 3 or 6. One teacher's map comes with every
set. The teacher’s map features highlighted reading frames and mutation
sites. All maps are laminated.
These models show how two amino acids (tyrosine and tryptophan) are
converted into two neurotransmitters (dopamine and serotonin) by two
consecutive enzyme-catalyzed reactions. Magnet-docked hydroxyl groups,
carboxylate groups and hydrogens allow each model to be quickly
converted from amino acid to neurotransmitter in two easy steps. These
structures were determined with the National Institute of Health databank.
The models are made of plaster by 3-D printing and should be
handled with care. They will break if dropped, held tightly or handled
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