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Ehlers Danlos Zebra

This SangerArtwork called "Ehlers Danlos Zebra" was inspired by Rare Disease Day that is always held on the last day in February.  I saw many images of zebras on social media that day, and all were raising awareness for rare diseases. The Ehlers Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD) are a group of rare connective tissue disorders that have really taken the zebra symbol to heart. So why the zebra?... Well, the phrase "When you hear the sound of hooves, think horses, not zebras" is often taught to medical students, reminding them to think of the simplest explanation when diagnosing illnesses. However, as people with rare diseases can attest to, sometimes when you hear the sound of hooves it really will be zebras. This is particularly the case for people with EDS or HSD, who can often go undiagnosed for many years.

There are 13 subtypes of EDS that are caused by defects in a variety of genes. Generally people with EDS will have hypermobile joints and stretchy but fragile skin that can tear easily. There are also features that differ between the different subtypes, including involvement of the heart valves, blood vessels and other organ systems and some features that are shared with other hypermobile disorders that have an unknown cause.

COL5A1 zebra_2000px.jpg

In this SangerArtwork I have used the gene sequence for the most common form of "classical" EDS, that is caused by mutations in the COL5A1 gene that encodes the collagen type 5 alpha 1 protein. Classical EDS is autosomal dominant, meaning that you require only one defective copy of the gene to get it. Hence someone with Ehlers Danlos has a 50% chance of passing it onto their children. It can also occur in a child as a new mutation that was not present in either parent. In this case there is still a 50% of that child passing it on to their children. Classical EDS is most commonly caused by defects in COL5A1 but can also be caused by defects in the related COL5A2 gene and more rarely the COL1A1 gene.

Collagens are proteins that are essential for the structural integrity of joints, skin and the body in general. The defective collagens in EDS lead to the hypermobility of joints and the stretchy skin that are characteristic of the syndrome. While it may look cool, hypermobility of joints can lead to frequent joint dislocation and skin fragility can lead to easy tearing and abnormal scarring.

The artwork is made up of >8000 bases of Sanger DNA sequence chromatogram with the image of a zebra embedded into it. Bases 1 to 8000 correspond to the messenger RNA sequence of the COL5A1 gene, which is located on human chromosome 9. There are 27 rows of sequence at 300 bases across, designed to be printed at a size of around 22x22 in or 55x55 cm.

This artwork is designed to be viewed both closeup - to reveal the DNA sequence, and far away - to reveal the image. The closeup that you can see below reveals some important details. The origin of the sequence (bases 1 to 8000) is shown in the bottom right corner - Human collagen type 5 alpha 1 chain (COL5A1) transcript 1 mRNA. The coding sequence (CDS), ie. the part that is translated into protein, runs from position 384 to 5900. Before and after this section you will find the 5'- and 3'- untranslated sequences (UTRs). As with most of my SangerArtworks I have used the bases after 8000 to sign and date the design with a hidden “Sangerism”.

You can purchase this artwork in a number of different formats from Society6 using the link below.



COL5A1 zebra_annotations_2000px.jpg
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