Chromosome+22

= **Chromosome 22** = = **Size(1):** = 51304566 bps = **Excerpt from Chapter:** =
 * **"**Near the tip of the long arm of Chromosome 22 there lies a massive and complicated gene pregnant with significance, known as HFW...The function of the protein, generalising horribly, to endow human beings with free will. Without HFW, we have no free will" (Matt Ridley, 1999, p.301-302) (7)


 * **Picture(1)**: [[image:http://t3.gstatic.com/images?q=tbn:ANd9GcQ_uJUiYdStQ6FY0ggsanDGHXsu1f_LI-NxHZPPUmT-0FHLrR3i7w width="128" height="380"]]

= Gene 1: NAGA (2) =
 * stands for N-acetylegalactosaminidase-alpha
 * Function of Gene:
 * NAGA gives instructions to make an enzyme called alpha-N-acetylgalactosaminidase. This enzyme is found in the lysosome, where it is responsible for breaking down molecules like glycoproteins and glycolipids.The molecules are formed when proteins and lipids attach to sugar molecules. Basically, this gene primary function is to remove the molecule alpha-N-acetylgalactosaminidase from sugar molecules.

= **Gene 2: SHANK 3** = Also known as SH3.
 * Diseases Caused by the NAGA gene:
 * Schindler disease
 * mutations in the gene change the overall shape of the NAGA enzyme. This correspondingly stops the enzyme from performing simple tasks such as breaking down glycoproteins and glycolipids. The molecules start to build up in the lysosomes, causing the cell to perform poorly. This causes the cell to eventually die. If these types of mutations occur in various organs and tissues, neurological problems become common.
 * Location:
 * The gene is found on the long arm of Chromosome 22

Location: 22q13.3 OR base pairs 51,113,069 to 51,171,640

__**Function:**__ > This gene is used for protien coding. The SHANK gene family are multidomain protiens that connect neurotransmitters, ion channels, and other membrane protiens to the "actin cytoskeleton" signaling pathways. This gene is responsible for neurotransmission. SHANK proteins help form a connection between nerve cells. > __**Disorder/Disease caused by SHANK3 gene:**__

PMS (Phelan-McDermid Syndrome) or also known as 22q13 Deletion Syndrome (22q13 DS) is caused by the deletion or mutation of the SHANK3 gene. These deletions and mutations can cause major mental malfunctions. The Deletion Syndrome can cause behavioral symptoms and can also be considered an Autism Spectrum Disorder (ASD). The loss of the SHANK3 gene can cause severe damage to the human nervous system.

//Symptoms of PMS://
 * Poor muscle tone
 * Absent or delayed speech
 * Intellectual disability
 * Minor facial or body abnormalities

Studies estimate that over a thousand people in the world have PMS. However, many people are not diagnosed with this disorder yet so no exact count is available. There is no set age to receive this disorder because many doctors have found it in new born babies.

====__**Interesting Fact! :**__ SHANK3 is also called "the scaffolding protein" because the proteins in SHANK3 "form an interlocking network that acts as a backbone for the synapse both mechanically and chemically."====

//__**References:**__//
> Blogger, G., Mitz, A., & Ph.D.. (n.d.). Turning Medical Science into Medical Treatments: The Quest for Translation in Phelan-McDermid Syndrome « Autism Speaks Official Blog. //Autism Speaks Official Blog //. Retrieved May 24, 2011, from http://blog.autismspeaks.org/2011/03/19/turning-medical-science-into-medical-treatments-the-quest-for-translation-in-phelan-mcdermid-syndrome/ >
 * 1) Interesting Fact link -
 * 1) SHANK3 SH3 and multiple ankyrin repeat domains 3 [Homo sapiens] - Gene result. (n.d.). //National Center for Biotechnology Information //. Retrieved May 24, 2011, from http://www.ncbi.nlm.nih.gov/gene/85358
 * 2) SHANK3 - SH3 and multiple ankyrin repeat domains 3 - Genetics Home Reference. (n.d.). //Genetics Home Reference - Your guide to understanding genetic conditions //. Retrieved May 24, 2011, from http://ghr.nlm.nih.gov/gene/SHANK3
 * 3) What are SHANK3 Mutations? | Phelan-McDermid Syndrome. (n.d.). //Phelan-McDermid Syndrome //. Retrieved May 24, 2011, from http://www.shank3gene.org/what-are-shank3-mutations/

= Gene 3 - ARSA(3,4) =

The official name of ARSA is “arylsulfatase A”. ARSA is the genes official symbol and it is also known by other name.

Gene Location
The ARSA gene is located on the long (q) arm of chromosome 22 between position 13.31 and the end (terminus) of the arm.

Cytogenetic location – 22q13.31-qter

Molecular location on chromosome 22: base pairs 51,063,448 to 51,066,606

Function of ARSA
The ARSA gene provides instruction for making the enzyme which helps to breaks down cerebroside 3-sulfate into cerebroside and sulfa. This enzyme is located in the cellular structures called lysosomes. Lysosome is the recycling center of cell. Arylsulfatase A helps process substances known as sulfatides. Sulfatides are a subgroup of sphingolipids, a category of fats which are important components of cell membranes. Sulfatides are abundant in the nervous system's white matter, consisting of nerve fibers covered by myelin. Myelin, made up of multiple layers of membranes, insulates and protects nerves.

Mutation in ARSA
The main disease caused by the mutation in ARSA is metachromatic leukodystrophy. More than 60 mutations that cause metachromatic leukodystrophy have been identified in the ARSA gene. Mutation in ARSA gene can cause a very low arylsulfatase A activity in ones body. In some cases, individuals with very low arylsulfatase A show no signs or symptoms of metachromatic leukodystrophy. This condition is called pseudoarylsulfatase. Deficiency, and seems to be cause by specific variation of the ARSA geme. = **Disorder(5,6):** = Emanuel Syndrome is a disorder that occurs due to extra genetic material from chromosome 11 and chromosome 22 in each cell. People affected by this, have an extra chromosome which consists of the two pieces from chromosomes 11 and 22. As a result of this, they have 3 copies of some genes in each cell instead of 2. it affects many parts of the body in both adults and children. In babies, for instance, the syndrome causes them to not gain weight, and have weak muscle tone. Other features include having a small lower jaw, and head. This disease in only life-threathening in children and infants, and is also very rare, with only 100 reported cases. Most cases have been found throughout all age groups. =Interesting Facts(3,4): =
 * Symptoms:
 * Severe intellectual disability
 * ear anomolies
 * kidney abnormalities
 * Congenital heart defects
 * Treatments:
 * Internal feeds, in case of failure to consume
 * palliative care, mainly in infants and children
 * alternative communication methods, because verbal skills become limited

cerebroside 3-sulfatase Cerebroside-3-sulfate 3-sulfohydrolase Cerebroside-Sulfatase MLD sulfatidase
 * <span style="color: #000000; font-family: &#39;Times New Roman&#39;,serif; text-decoration: none;">The variation in ARSA gene may be present in as many as 5 to 10 percent of European and north American populations.
 * Other name people uses of ARSA gene or product are

=<span style="color: #ff0000; font-family: &#39;Times New Roman&#39;,serif;">References: =

<span style="background-color: transparent; color: #000000; display: block; font-family: "Times New Roman"; font-size: 16px; text-align: left; text-decoration: none;">1.Chromosome 22 [PharmGKB]. (n.d.). //<span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none;">The Pharmacogenomics Knowledge Base [PharmGKB] //. Retrieved May 24, 2011, from http://www.pharmgkb.org/do/serve?objCls=Chromosome&objId=PA525 <span style="background-color: transparent; color: #000000; display: block; font-family: "Times New Roman"; font-size: 16px; text-align: left; text-decoration: none;">2.NAGA - N-acetylgalactosaminidase, alpha- - Genetics Home Reference. (2011, April 7). //<span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none;">Genetics Home Reference - Your guide to understanding genetic conditions //. Retrieved April 13, 2011, from <span style="background-color: transparent; color: #0066cc; font-family: Times New Roman; font-size: 16px; text-align: left;">__[]__ <span style="background-color: transparent; color: #000000; display: block; font-family: "Times New Roman"; font-size: 16px; text-align: left; text-decoration: none;">3.AR - androgen receptor - Genetics Home Reference. (n.d.). //<span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none;">Genetics Home Reference - Your guide to understanding genetic conditions //. Retrieved May 24, 2011, from http://ghr.nlm.nih.gov/gene/AR 4. Chromosome 22 Central. (n.d.). <span style="background-color: transparent; color: #000000; display: block; font-family: "Times New Roman"; font-size: 16px; text-align: left; text-decoration: none;">Chromosome 22 Central. Retrieved May 24, 2011, from http://www.c22c.org/about22.htm 5. Emanuel syndrome - Genetics Home Reference. (n.d.). Genetics Home Reference - Your guide to understanding genetic conditions. Retrieved May 24, 2011, from []

6.Emanuel Syndrome - GeneReviews - NCBI Bookshelf. (n.d.). National Center for Biotechnology Information. Retrieved May 24, 2011, from []

7.Ridley, M. (1999). Genome: the autobiography of a species in 23 chapters. New York: HarperCollins.

<span style="background-color: transparent; color: #000000; display: block; font-family: "Times New Roman"; font-size: 16px; text-align: left; text-decoration: none;">8. SHANK3 - SH3 and multiple ankyrin repeat domains 3 - Genetics Home Reference. (n.d.). //<span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none;">Genetics Home Reference - Your guide to understanding genetic conditions //. Retrieved May 24, 2011, from http://ghr.nlm.nih.gov/gene/SHANK3