Fragile-X Group Presentation

Fragile-X Group Presentation - Aaron Talbot Brianna Haynes...

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Fragile-X Aaron Talbot Brianna Haynes Falon Reiss Stella Martinez
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Overview of DNA DNA has Histones (+) and Negative Phosphate groups in The Polymer side Chains Polymer Side Chains The Backbone contains Purines and Pyrimidines
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Overview of Chromosomes 23 Pairs, 46 Total. Stored in the Nucleus Autosomes – First 23 Sex Chromosomes
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Fragile-X: The Disease Both males and females are carriers FMR1 gene – On X chromosome, produces Fragile X Mental Retardation Protein, Contains CGG repeat on promoter region Hypermethylation causes the FMR1 gene to be silenced = no transcription = no FMR1
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Anatomy of the X Chromosome Split into P and Q sections – P is the short arm, Q is the long arm. Q1 and Q2 FRM1 gene located ( What is the Mutation in FMR1 That Causes Fragile X )
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Gene Expression Absence of the FMRP protein (Fragile X mental retardation protein) FMRP is used to help to metabolize mRNA which is used for translating brain activity This protein is missing because of methylation, a processes that is typically helpful
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Methylation This occurs when a methyl group is added to the 5 position on the cytosine ring (as shown below) or to the 6th nitrogen on the adenine ring
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Methylation Continued… Methylation occurs to suppress viral or undesirable genes from being duplicated Methylation also aids in forming chromatin structure Enzyme adding methyl group to DNA
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Fragile-X Group Presentation - Aaron Talbot Brianna Haynes...

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