Chromosome+15

=__Chromosome 1 __=



**Size of Chromosome**: Chromosome 15 has about 100 million base pairs.[|6](Chromosome, n.d)

 from one parent were written in italic script.” **- Matt Ridley**
**Gene1 **: //**BML Gene **(Bloom syndrome, RecQ helicase-like) // Scientific Terms : **[|5]**(BLM, n.d) The BLM gene provides instructions for making a member of a protein family called RecQ helicases. Because RecQ helicases maintain the structure and integrity of DNA, they are known as the "caretakers of the genome." The BLM protein interacts with several other proteins involved in the maintenance of genome integrity. With the help of its partner proteins, BLM suppresses sister chromatid exchanges and helps to maintain the stability of the DNA during the copying process. In the absence of BLM activity, DNA copying restarts through a mechanism called homologous recombination that results in sister chromatid exchange.

Layman's Terms The BLM gene provides instructions for making a helicase protein called RecQ helicases. Helicases are the proteins that DNA wraps around to form the condensed chromosome form and unwrap during DNA replication. Their influence on the stability of DNA structure gives them the name of "caretakers of the genome." The BLM protein, RecQ helicase, joined with other proteins help maintain the DNA structure during DNA replication and stop sister chromatids from exchanging genes. Without the BLM gene, genes from sister chromatids would exchange as DNA restarts replication.

**Gene 2 **: **//POLG Gene//** //(Polymerase gamma/Pol γ)// Scientific Terms :[|7](POLG, n.d)  The POLG gene provides instructions for making the active piece, called the alpha subunit, of a protein called polymerase gamma (pol γ). To be most effective, the alpha subunit attaches to two copies of another protein called the beta subunit to form pol γ. Pol γ is a DNA polymerase, which is a type of enzyme that "reads" sequences of DNA and uses them as templates to produce new DNA. These enzymes are important for copying (replicating) cells' genetic material. DNA polymerases also play critical roles in DNA repair.

Layman's Terms: <span style="font-family: Georgia,serif;"> The POLG gene gives instructions for making the leading piece of polymerase gamma or pol γ. To form pol γ, the leading piece, or "alpha subunit", to two beta subunits. Poly γ is essential in DNA replication and DNA repair. They help make templates to make a copy of DNA by scanning through the DNA sequence.

<span style="color: #ff0000; font-family: Georgia,serif;">Disorder: Angelman's syndrome
"Boy with a Puppet"(below) by Giovanni Francesco Caroto An artistic depiction of a child with Angelman's Syndrome.[|4](wiki, n.d)

<span style="color: #800000; font-family: Georgia,serif;">Angelman's syndrome <span style="color: #ff0000; font-family: Georgia,serif;">: <span style="font-family: Georgia,serif;">[|4](Wiki, n.d) <span style="font-family: Georgia,serif;">Angelman's syndrome is a genetic disorder that effects the nervous system and causes development problems. Some <span style="font-family: Georgia,serif;"> symptoms or characteristics of Angelman's syndrome include speech impairment, movement or balance disorders, developmental delay, hyperactivity, short attention spans, and seizures. Individuals who have A.S also have an apparent happy demeanor and smile, laugh, and flap their hands often without reason with distinct facial features.

<span style="color: #800000; font-family: Georgia,serif;">Genetic Cause: <span style="font-family: Georgia,serif;"> [|6](Chromosome, n.d) <span style="font-family: Georgia,serif;">In most cases of Angelman's Syndrome, it is caused by the deletion of the region on the maternal copy chromosome 15 that carries the gene UBE3A. In a small percentage of cases, it is caused by having two copies of chromosome 15 from the father or two paternal copies. Other cases include mutations of the UBE3A gene or the part of That activates the gene.

<span style="color: #800000; font-family: Georgia,serif;">Age of onset <span style="font-family: Georgia,serif;">:[|4](Wiki, n.d) <span style="font-family: Georgia,serif;">The symptoms of Angelman's syndrome is not evident at birth but certain symptoms <span style="font-family: Georgia,serif;">such as delayed or disproportional growth of head circumference start at age 2 and seizures begin at age 3. Characteristics of A.S vary and alter over time.

<span style="color: #800000; font-family: Georgia,serif;">Likelihood of Getting A.S <span style="font-family: Georgia,serif;">:[|1](Foundation,n.d) <span style="font-family: Georgia,serif;">Angelman's syndrome effects about 1 in 15,000 live births.

<span style="color: #800000; font-family: Georgia,serif;">Severity <span style="font-family: Georgia,serif;">:[|4](Wiki, n.d) <span style="font-family: Georgia,serif;">The severity of Angelman's syndrom varies in the effected individual. A highly effected individual may find walking and simple motor skills such as sign language with the lack of speech very difficult. Those who are not profoundly effected may gain some ability of speech and have a higher degree of self-care.

<span style="color: #800000; font-family: Georgia,serif;">Treatments <span style="font-family: Georgia,serif;">: [|4](wiki, n.d) <span style="font-family: Georgia,serif;">Unfortunately there are no cures for Angelman's syndrome but several therapies. Early and continuous physical therapy, occupational therapy, and communication therapy can significantly improve individuals with A.S. Varying medications for different levels of epilepsy can provide assistance with controlling the affects. Nevertheless, individual's with Angelman's syndrome live an apparent normal life span.

<span style="color: #800080; font-family: Georgia,serif;">Interesting Facts <span style="font-family: Georgia,serif;">:[|6](Chromosome, n.d)

 * 1) <span style="font-family: Georgia,serif;">Genes on chromosome 15 are among the estimated 20,000 to 25,000 total genes in the human genome.
 * 2) <span style="font-family: Georgia,serif;">Chromosome 15 represents more than 3% of DNA in cells.


 * References:**
 * 1) <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Angelman Syndrome Foundation, Inc. â€“ Research, Genetic Counseling, Diagnosis, Seizures, Angelmans Syndrome Association - Angelman. (n.d.). //<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Angelman Syndrome Foundation, Inc. â€“ Research, Genetic Counseling, Diagnosis, Seizures, Angelmans Syndrome Association - Angelman //<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">. Retrieved May 13, 2012, from []
 * 2) <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Angelman Syndrome â€“ Symptoms, Pictures, Causes, Life Expectancy and Treatment. (n.d.). //<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Health Articles, News and Tips - PrimeHealthChannel.com //<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">. Retrieved May 13, 2012, from []
 * 3) <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Angelman syndrome - Genetics Home Reference. (n.d.). //<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Genetics Home Reference - Your guide to understanding genetic conditions //<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">. Retrieved May 13, 2012, from []
 * 4) <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Angelman syndrome - Wikipedia, the free encyclopedia. (n.d.). //Wikipedia, the free encyclopedia//. Retrieved May 13, 2012, from []
 * 5) <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">BLM - Bloom syndrome, RecQ helicase-like - Genetics Home Reference. (n.d.). //<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Genetics Home Reference - Your guide to understanding genetic conditions //<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">. Retrieved May 13, 2012, from []
 * 6) <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Chromosome 15 - Genetics Home Reference. (n.d.). //<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Genetics Home Reference - Your guide to understanding genetic conditions //<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">. Retrieved May 13, 2012, from []
 * 7) <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">POLG - polymerase (DNA directed), gamma - Genetics Home Reference. (n.d.). //<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Genetics Home Reference - Your guide to understanding genetic conditions //<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">. Retrieved May 13, 2012, from []
 * 8) <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Ridley, M. (1999). //<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Genome: the autobiography of a species in 23 chapters //<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">. New York: HarperCollins.

<span style="background-color: #f9f9f9; display: block; font-family: sans-serif; font-size: 11px; text-align: center;">.