I’m gonna pin this for a few days to get it some well deserved attention. This is a great project that the whole community should embrace.
Here’s something from another thread on here:
Here are a few of the posts they have made public over there…
How it works:
Here is a general overview of how the process works:
The source and morph of received sheds are recorded, and sheds are then stored in the freezer to kill insects. Snake sheds are then washed and divided into equal portions, which are placed inside 1.5 mL tubes. Lysis buffer is used to perform DNA extraction. The extracted DNA is then purified, and undergoes PCR reactions. PCR reactions use restriction enzymes to fragment the DNA at specific sites. DNA fragments are then run through electrophoresis to determine their size. The PCR reactions (DNA fragments) are also sent to an outside source to analyze the DNA sequence. The DNA sequence data is then returned to us and compared to the DNA sequence of our known wild-type morphism to check for mutations.
Current progress (albino)
The first color morph we decided to study was ‘albino’. We chose the albino color morph because albinism has been well studied in humans and mice, and the genes causing albinism in mammals tend to be highly similar between species. This similarity suggests that the mammalian and reptile versions of these genes function similarly at the molecular level. Mutations in the reptile versions of these genes are therefore expected to cause albinism in reptiles.
We hypothesized that albino ball pythons carry a mutation in one of the same genes causing albinism in humans or mice. To test this hypothesis, we chose seven of the genes known to cause albinism in humans or mice. We identified the ball python versions of these genes, and we sequenced the ‘coding’ regions of each gene in two animals: one normal (wildtype) ball python and one albino ball python. We focused on the coding regions of the genes because the coding regions are the parts of a gene that determine the structure and function of the protein that the gene encodes. Mutations that disrupt gene function often (but not always) reside in coding regions. What did we find? Surprisingly, we did not find any mutations in the coding regions of the genes in the albino ball python.
Our results could mean one of two things. First, our results could mean that albinism in ball pythons is not caused by a mutation in any of the seven genes we sequenced; rather, albinism might be caused by a mutation in a different gene. An alternate possibility is that albinism in ball pythons might be caused by a mutation residing in a non-coding region of one of the genes we sequenced. Such a mutation would have remained hidden to us because we did not sequence non-coding regions of the genes. We are currently performing experiments to distinguish between these possibilities. Stay tuned for updates!
Current progress (Ultramel morph):
The second color morph we decided to study was ‘ultramel’, also known as ‘ultramelanistic’. Another name occasionally used for ‘ultramel’ is ‘caramel albino’. We avoid this name because of confusion with another morph called ‘caramel albino’ that is genetically distinct from ‘ultramel’ .
Ultramel ball pythons differ from normal ball pythons in that they have less brown-to-black pigment in the skin. Ultramel is therefore a form of albinism, but is more mild than the albinism associated with the ‘albino’ color morph.
The difference between ultramel and albino ball pythons resembles the difference between mild versus severe albinism in humans and mice. Albinism in humans and mice can be caused by mutations in any of several genes. Mutations in some of these genes cause a severe form of albinism, in which patients produce little or no pigment in the skin, hair, and eyes. This severe form of albinism resembles the albino color morph in ball pythons. Mutations in other genes cause more mild forms of albinism in humans and mice, in which patients produce some pigment, but less than normal. This more mild form of albinism resembles the ultramel color morph in ball pythons.
We chose to study the ultramel color morph because its resemblance to mild forms of albinism in humans and mice allowed us to predict which genes might be mutated in ultramel ball pythons. We predicted that ultramel ball pythons carry a mutation in one of the same genes causing mild forms of albinism in humans and mice.
To test this hypothesis, we identified the ball python versions of genes known to cause mild forms of albinism in humans and mice. We sequenced the coding regions of each gene in two animals: one normal (wildtype) ball python and one ultramel ball python. What did we find? We found that the ultramel ball python carries a mutation that removes part of the one of these genes. This mutation therefore disrupts the function of the gene. This effect on gene function explains why ultramel ball pythons make less brown-to-black pigment in the skin.
The next step of our study is to confirm that the mutation we found in the single ultramel ball python is shared with other ultramels. To complete this step, we need to collect sheds from additional ultramel ball pythons. If you own an ultramel, please contribute a shed from your animal. Once we confirm that the mutation we found in a single ultramel is shared across all ultramels, we will create a genetic test for the ultramel color morph. This test will enable breeders of ultramel ball pythons to identify ultramel heterozygotes (i.e. carriers) from non-heterozygotes (i.e. non-carriers)
Ball Python Genetics Project