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Chromosome 15 Per 2

Page history last edited by Joseph Wells 14 years, 5 months ago

 

 

Angelman Syndrome is caused by variety of factors, all involving the UBE3A gene located on the maternal copy of Chromosome 15. Because of this variation, Angelman syndrome usually occurs sporatically within the population. However, it has been shown have an inheritance component as well. In most cases, a microdeletion occurs. The second most likely cause is a mutation on that gene. Rarely, the disorder is triggered by the inheritance of two paternal copiesinstead of one from each parent. This is referred to as paternal uniparental disomy.

                                                                                                                                                                                                                                                                                                                     

 

 

 

 

 

 

 

 

 http://ghr.nlm.nih.gov/gene=ube3a

 

In most body tissues, both the paternal and maternal regions specific to this gene are activated. This is not so in the brain. Therefore, an individual may have a fully functional paternal chromosome 15, and still exhibit abnormalities in neurological function.This is why inhereting two parental copies of the gene is bad; no maternal copy, no genetic material recognized by the brain for performing a specific task.

 

 

The UBE3A gene codes for enzyme that breaks down proteins in what is known as the ubiquitin pathway.This enzyme, ubiquitin protein ligase E3A,helps to regulate cellular function by breaking down damaged or unneeded proteins from inside the cell. One such protein regulates cellular growth. Without the degradation of these proteins in braincells, neurons misfire and the phenotypic characteristics appear: developmental delay, impaired motor skills, seizures. 

 

http://www.uky.edu/~jasmal3/images/UbqPathway.jpg

 

Another gene deleted within this same segment is OCA2, a determining factor in hair and skin pigmentation. Deletion of this gene  leads to fair skin and blonde hair, a characteristic common among of those who have AS.     [1]                          

 

       

http://www.asf-wac.org/ourstories.html

 

All children are affected by Angelman syndrome, and also show the OCA2 deletion.

 

                                                                                                    

               

                 

                     

 

Footnotes

  1. "Angelman Syndrome." Genetics Home Reference. Jul 2009. Web. 29 Oct 2009. .

Comments (6)

rryoung@... said

at 9:30 am on Oct 29, 2009

Good links.

Did you get ALL of htis information from the SAME page/location?

Kyle Gooding said

at 8:59 am on Nov 4, 2009

This page has a good length to it for where I really can understand what this syndrome is. The picture diagrams help as well

Cheryl Twyman said

at 9:24 am on Nov 4, 2009

You guys did a great job with thinks and pictures on this page. The pictures of the gene and pathway really helps to understand what is happening with the mutation.

Emily Buis said

at 9:32 am on Nov 4, 2009

The information and pictures makes the genetics of the disease really easy to understand.

Alex Burgan said

at 9:42 am on Nov 4, 2009

The information goes extremely in depth and the pictures make it very easy to understand.

Kathryn Snyder said

at 9:53 am on Nov 5, 2009

I thought that the deletion of the gene OCA2 was interesting because it makes most people affected with AS have fair hair and fair skin.

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