Chromosome+16

=Chromosome #16 - "Memory"=


 * Size of Chromosome:** 89 million bp long



"The genome does not tell the heart when to beat, nor the eye when to blink, nor the mind when to think. Even if the genes do set some of the parameters of personality, intelligence and human nature with surprising precision, they know when to delegate. Here on chromosome 16 lie some of the great delegators: genes that allow learning and memory." - **Matt Ridley**, //Genome: The Autobiography of a Species in 23 Chapters//

= CREBBP Gene =

- The CREBBP Gene gives the codes that instruct the human body on how to create the CREB binding protein. This protein is responsible for a variety of jobs. It helps in regulating cell division, growth and maturity. Long-term memories are also thought to be formed by the CREB binding protein, which is mentioned in the book of //Genome.// The protein created from the CREBBP gene is also essential in the development of humans before and after birth. CREB functions through the activation of transcription and connects with transcription factors that start the process. It is a transcriptional coactivator. ([|CREBBP] **May 5, 2012**) Other Memory/Development related Chromosome 16 Genes: GPR56, JPH3, MLYCD ([|Genes on Chromosome 16] **May 1, 2012**) //Possible Disorder:// Rubinstein-Taybi Syndrome
 * Official Name:** CREB binding protein

= = = MC1R Gene =

- The MC1R gene provides the instructions for the body to make the protein called melanocortin 1 receptor which allows for normal pigmentation. Melanocytes, special cells that create the pigment melanin, are where the melanocortin proteins are predominantly found. Melanin is what gives each person their skin, hair and eye color, not to mention it is important when comes to one having normal vision. Melanocortin 1 receptor, coming from the MC1R gene regulates and oversees which type of melanin is created in the melanocytes. The two types of melanin are eumelanin and pheomelanin. A number of different chemical reactions within melanocytes cause eumelanin to be created when the melanocortin 1 receptor is actuated. If the protein is not triggered, pheomelanin is created instead. Humans who manufacture mostly eumelanin are normally those with brown or black hair and dark, easily tanning skin. Those with red or blond hair and light, easily burnt skin tend to generate mostly pheomelanin because "pheomelanin does not protect from UV radiation." ([|MC1R] **May 3, 2012**) //Possible Disorder:// oculocutaneous albinism
 * Official Name:** melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)

= Disorder: Juvenile Batten disease= - Juvenile Batten disease is quite uncommon, it affects 2-4 per 100,000 newborns in the United States, but has been seen all over the world. This disease is caused by a mutation in both of the [|CLN3] genes of the individual. The mutation is inherited recessively, therefore both parents may not be affected, but the child is. The nervous system is what is mostly in danger because of this disease, CLN3 is a gene that is important in the survival of nerve cells in the brain. - This disorder becomes apparent in early childhood. Vision loss is usually the first sign, starting between the age of 4-8. It can easily and rapidly lead to the child becoming blind. Reoccurring seizures will also start between 5 and 18 years of age. Thinking ability worsens over time, and they normally have behavior issues, sleeping problems and speech impairments. Movement becomes extremely difficult throughout the individual's life, for example, the ability to walk is lost. All of these conditions occur just because of this mutation in the CLN3 gene. People with this disease normally die in the teens or twenties, but some can live to their thirties. -//Treatment//: There is still no cure for Juvenile Batten disease, but research is being done. Even though there is no cure, little treatment can be done. Those who are affected with this disorder need extensive care. Blindness and the inability to walk properly are what cause this. Specific seizure medicines can be taken by the person to calm down or stop the recurrent seizures. They can also have behavioral, speech, and/or physical therapy if the parents/doctors think it is necessary. ([|Juvenile Batten disease] **May 11,2012**)

//This is Sarah Inks,// //a 9 year old girl with// //Juvenile Batten disease.// //She is blind, with// //behavioral, movement// //and memory problems.// //Her friend Trevor// //Mcanigal helps her// //down the hall at// //school.//

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Interesting Facts
1. Chromosome 16 only makes up about 3% of the total human genome. 2. There are approximately 850 - 1200 genes present in chromosome 16. 3. Unfortunately, humans with Trisomy 16 lead to miscarriage because they are not compatible with life.