The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild [OpenAccess]
The only known albino gorilla named Snowflake was a male wild-born Western lowland gorilla (Gorilla gorilla gorilla) from Equatorial Guinea. He was brought to the Barcelona Zoo in 1966 at young age, where he gained popularity worldwide. Snowflake presented the typical properties of albinism as seen in humans: white hair, pink skin, blue eyes, reduced visual acuity and photophobia. Given his lack of pigmentation and thus reduced protection from UV light, the aged albino gorilla developed squamous-cell carcinoma that led to his euthanasia in 2003.
Snowflake was diagnosed with non-syndromic albinism (Oculocutaneous Albinism, OCA). This is a group of Mendelian recessive disorders characterized by the generalized reduction of pigmentation in skin, hair, and eyes. Pigmentation is determined by melanin compounds, which are produced in melanocytes and are transported via melanosomes into keratinocytes of the epidermis and hair follicles. It has been widely studied in humans and four genes are found to be causative of this disorder: (i) OCA1A/B (MIM 203100,606952) are caused by mutations in the gene TYR(Tyrosinase) (ii) mutations in the OCA2 gene (previously known as P-gene) can cause OCA2 phenotype (MIM 203200) (iii) mutations in TYRP1 cause OCA3 (MIM 203290) and (iv) OCA4 (MIM 606574) is caused by mutations in SLC45A2 (formerly known as MATP and AIM1). Tyrosinase and TYRP1 are critical in the melanin synthesis pathway whereas P protein (OCA2) and SLC45A2 are involved in melanocytes maintenance or formation.
A previous study tried to assess whether the causative mutation of Snowflake’s albinism was located in the TYR gene but no causative mutation was found. Here, we make use of whole genome sequencing to provide a better characterization of all known genes related to albinism to try to ascertain the genetic component causing this phenotype and to study genome wide patterns that can help the field of conservation genetics. Most of the knowledge about ecology, population dynamics, demography and social behavior about gorillas has been collected from mountain gorillas (Gorilla beringei beringei) and until recently this has not expanded to Western lowland gorillas. This effort has been extremely helpful to improve our knowledge and conservation of this endangered species. With the development of conservation genetics we have gained insights into population genetics, demographic history and group relationships through the usage of both microsatellites and mitochondrial markers. The main difficulty of these studies is that non-invasive samples such as hair or feces cannot provide DNA of high quality.
Here, using high quality DNA and next-generation sequencing, we have studied for the first time the whole genome of a wild born Western lowland gorilla. It is important to stress that previous whole-genome sequencing projects of Western lowland gorillas, involved captive-born individuals, Kamilah and Kwan, individuals that do not belong to a wild population as it has been recently studied with microsatellite markers. Studying this unique albino gorilla, we find the first evidence of inbreeding in wild Western lowland gorillas.
There are few topics as controversial as research involving experiments on animals in general and primates in particular.
- from Max Planck Institute
“The conflict centres on two irreconcilable ethical obligations: the obligation to seek ways of making diseases treatable and in this way reduce human suffering, on the one hand, and the obligation to protect the lives of animals, on the other. As long as animal testing remains the only way of accessing knowledge about the functions and complex biological interactions in living organisms, there can be no satisfactory solution to this conflict.
A few figures to begin: As all experiments on animals are subject to both authorisation and approval, there are very accurate statistical records available on them. According to the statistics, the number of animals killed for the requirements of basic research in Germany is only 0.03 percent of the total number of animals sacrificed for human requirements (this only includes the animals killed to provide food and materials and does not include the extermination of so-called vermin etc.). Around three-quarters of all laboratory animals are rodents; the percentage of non-human primates (e.g. macaques, marmosets and vervet monkeys) is 0.05 and has remained constant for years.
Playing around with numbers like this is of little help when it comes to the ethical balancing of animal and human suffering. It is true that animals are killed to gain information. But it is not true that animals are tortured. It is clearly important to examine the harm and suffering inflicted on animals in basic research. However, the hope and assumption is that the knowledge gained from the experiments will serve in establishing a better understanding of the cause of diseases in animals and humans, and the development of effective treatments. The desire to forego the knowledge that can be gained from animal testing means deliberately foregoing the desire to help people who suffer from diseases for which no treatment currently exists. This is the moral dilemma” (read more).
(Source: Max Planck Institute)
“It is often claimed that the knowledge gained from animals is not applicable to humans. This claim is simply false…This is demonstrated most clearly by the fact that almost all of the methods used in human medicine are the same as those used in veterinary medicine. Anyone who claims that the insights gained from animals are meaningless when it comes to the understanding of normal and pathogenic processes in the human body is either badly informed or knowingly untruthful." (x)
Yeast already participate in producing some of the most popular pain-killing substances around: beer and wine. Now, scientists have engineered yeast that can also make one of the most powerful analgesics: morphine. Their work is in the journal Nature Chemical Biology. [Kate Thodey, Stephanie Galanie and Christina D. Smolke, A microbial biomanufacturing platform for natural and semisynthetic opioids]
“If we don’t do something to fix the glaring inequities in this economy, the pitchforks are going to come for us. No society can sustain this kind of rising inequality. In fact, there is no example in human history where wealth accumulated like this and the pitchforks didn’t eventually come out. You show me a highly unequal society, and I will show you a police state. Or an uprising. There are no counterexamples. None. It’s not if, it’s when.”
Examples of an elongated skull.
I think I have posted elongated skulls before, they are beautifully rare and if you find one snatch it up! Their worth quite a bit of money. I wonder if the elongation process effects natural brain functions.
Not really odd or gory, I just think elongated skulls are pretty cool, rare, and maybe a little odd to some people
Is anyone else disturbed by the callous commodification of human remains in this commentary?
Anyhow, here’s a very good and readable blog entry on cranial modification if any of y’all have an actual interest in the practice: http://www.poweredbyosteons.org/2011/11/cranial-vault-modification-or.html
Couldn’t agree more.
And no, cranial modification has no effect on “natural brain functions.”