Interesting research article into amelanism

[Giga]

Hello everyone!

Let me preface this by saying I'm not sure how many people will find this interesting or informative, but as a genetics nut myself, I have long been searching for scientific studies into the causes of various pattern morphs, and wishing more research was done on this topic.

Well, to my delight, today I found an article that delves into the genetic cause behind amelanism. In other words, they have found the exact gene that is 'broken' in amels, and the exact way in which it has been 'broken'. I know this might not be of much interest to some and might potentially go over the heads of folks that don't have a background in genetics, but I personally found it so fascinating that if just one other person reads it and enjoys it, well, why not put it up?

I'm keeping an eye on this research group in the future - they seem to be interested in reptile development and in particular in skin colouration

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4657000/

 

[DollysMom]

I definitely appreciate scholarly articles on corn snakes and all snakes. It is an area that has not been studied nearly enough. Thanks for posting this. Now I'll go read it!

 

[HerpsOfNM]

If you want a little more insight...

NOAH (National Organization for Albinism and Hypopigmentation) is a fun site to read. I've been visiting it since 2000, when I wrote a paper of albinism in reptiles for my technical writing college course - 17 pages with reference images; got an A on it. Prof didn't give me an A+ because some hobby terms, like morph, and other biological terminology I had to define and she still nitpicked on the words even after I made corrections for the final paper for her. Ironically, her husband is a biologist that was the director (retired 2014) of the zoo in town.

In humans, OCA2 is known as P gene albinism, and it is caused by a genetic defect in the P gene that aids in tyrosinase enzyme functionality. There are at least 6 other OCA# forms of albinism, as well as other genes that can trigger albinism.

I'm in the early stages of working towards my Master's, currently exploring either Medical Laboratory Science or Forensic Toxicology. Whichever program I hopefully get accepted into, I'd like to broaden my knowledge even further within metabolic pathways towards not only employment, but towards the genetic mutations of my herps. I had planned on doing such 10 years ago during my undergrad using leopard geckos, but my genetics professor never really vested into my interest. Coupled with an ultimatum to graduate or loose my full-time city job, I basically ignored and have neglected a passion to genuinely understand what's going on with herp morphs.

 

[Giga]

If you want a little more insight...

NOAH (National Organization for Albinism and Hypopigmentation) is a fun site to read. I've been visiting it since 2000, when I wrote a paper of albinism in reptiles for my technical writing college course - 17 pages with reference images; got an A on it. Prof didn't give me an A+ because some hobby terms, like morph, and other biological terminology I had to define and she still nitpicked on the words even after I made corrections for the final paper for her. Ironically, her husband is a biologist that was the director (retired 2014) of the zoo in town.

In humans, OCA2 is known as P gene albinism, and it is caused by a genetic defect in the P gene that aids in tyrosinase enzyme functionality. There are at least 6 other OCA# forms of albinism, as well as other genes that can trigger albinism.

I'm in the early stages of working towards my Master's, currently exploring either Medical Laboratory Science or Forensic Toxicology. Whichever program I hopefully get accepted into, I'd like to broaden my knowledge even further within metabolic pathways towards not only employment, but towards the genetic mutations of my herps. I had planned on doing such 10 years ago during my undergrad using leopard geckos, but my genetics professor never really vested into my interest. Coupled with an ultimatum to graduate or loose my full-time city job, I basically ignored and have neglected a passion to genuinely understand what's going on with herp morphs.

Unfortunately, it's not an area of study that many funding bodies are going to get excited about. It's difficult to argue the direct benefits of isolating the genes involved in reptile colour variants in a funding application, since it's unlikely to lead either to healthcare improvements or species conservation. There are some arguments that sort of work; the group that did the above research justify their use of reptiles and especially corn snakes, which they sequenced the genome of, as a potential resource for evolutionary development researchers as the squamate lineage is severely under-represented in terms of sequenced genomes. They say it could be useful for determining how pigment pattern develops in squamates and hence inform on evolutionary processes, and indeed it might, but ultimately the whole field is more a question of interest than one of direct benefit. Unfortunately, with funding limited and funding bodies preferring to give what resources they have to 'safe' options likely to result in a publication, the age of just studying what interests you is dwindling.

There is a potential commercial benefit; in some species, particularly horses, owners regularly genotype their animals to predict offspring traits. A stallion with a desirable colour combination is more likely to be used at stud in some scenarios. In order to do this, you have to have identified the gene responsible for a particular trait. I imagine some 'big breeders' would relish the ability to test their 'poss het', if a genetic test was available, to judge its worth in breeding programs. The trouble is though, horses are worth a lot more than snakes, and what constitutes a desirable trait is fairly stable. Sure, in snakes, a breeding sire with a new striking mutation may be worth a lot of money, but within four years or so, the price will inevitably drop down and down. Snakes breed much more quickly than horses.

The one thing that I can see gaining some traction would be morphs associated with known defects. Ethics aside, I have often wondered why spider royals have a neurological phenotype. It would suggest to me that a pathway way back in ectoderm development is altered, but as far as I'm aware, no one knows what gene is affected or what its role in both skin and and neural tissue might be. This is something that might attract funding as it has implications for animal welfare and veterinary practice. If someone picked this up to research, I'd be over the moon.

But it shan't be me. I used to toy with the idea of emailing someone involved in snakes in some way and begging them to take me on as a PhD student, but I have other interests, and in the end I went with a field that was both personally fascinating and attractive to funders - the glamourous world of parasitic nemotode genomics awaits me!

 

[axis1]

. . . - the glamourous world of parasitic nemotode genomics awaits me!

Huh? :eek1:

I appreciate the article on amelanism even though it's not the easiest read, genetics & biology NOT being areas in which I have any expertise. However, I am also extremely interested in it. Now if I could just find the time to CRACK the unopened book on corn snake morphs I purchased like 2 months ago after someone (Nanci, I THINK!) sent me the name of a book after admitting that I don't know an AMEL from a CARAMEL!

I haven't had the time yet! I've been busier than a one-legged man in an ass-kickin' contest!!! :eek1:

 

[Giga]

Huh? :

I'm about to start a PhD in rat parasite genes so I was being a bit sarky anout how (un)glamourous it is

And there's a book specifically about corn snakes? Do you have the name? I think I might know what I want for Christmas

 

[Dragonling]

I'm about to start a PhD in rat parasite genes so I was being a bit sarky anout how (un)glamourous it is

And there's a book specifically about corn snakes? Do you have the name? I think I might know what I want for Christmas

I'm guessing by Chuck Pritzel: www.cornguide.com. The last version was released in '11, and while I have some minor disagreements with a couple very minor things, it's an excellent guide to identifying morphs.