Wilson disease - ATP7B
This "DNA dot-to-dot" digital drawing is made from the sequence of the human Wilson disease gene (ATP7B). The gene encodes a copper transporting protein that transports copper out of cells. Mutations in this gene cause Wilson disease, where copper accumulates in various organs, leading to liver and/or neurological disease. One feature that is characteristic of Wilson disease is the appearance of a copper-coloured ring in the cornea of the eye, known as a Kayser-Fleisher ring. Symptoms of Wilson disease usually start in the teens or twenties but age of onset and severity of disease can be variable. Patients usually need to take life-long copper chelating medications to remove the excess copper from their bodies.
The ATP7B gene is located on human chromosome 7. Wilson disease is autosomal recessive, meaning that 2 mutated copies of the gene are necessary to cause the disease, one inherited from each parent. There are over 700 mutations in the ATP7B gene that have been associated with Wilson disease. The global prevalence of Wilson disease is thought to be around 1 in 30,000, although some studies have predicted a higher prevalence in some populations, including a study by myself.
"Wilson disease - ATP7B" was created from a single line using the nucleotide sequence of the human ATP7B gene and an image of an eye as a template. I used the GenBank sequence NM_000053.4 that contains the 6598 nucleotides of sequence corresponding to "Homo sapiens ATPase copper transporting beta (ATP7B), transcript variant 1, mRNA". All bases of the gene sequence are represented as coloured dots joined by a single line. The line is drawn in such a way that it changes colour, using shades of blue/green - the colour of oxidised copper, while making the picture of an eye with a copper-coloured Kayser Fleisher ring visible on the iris. The dots that represent each base of the sequence are colour-coded: A = green, C = blue, G = yellow, T = red. The video below shows the picture being drawn.
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