Fragile-X+References

__ Annotated Bibliography (APA) __
Alisch R, Wang T, Chopra P, Visootsak J, Conneely K, et al. BMC Med Genet. January 29, 2013. [|Genome-wide analysis validates aberrant methylation in fragile X] [|syndrome is specific to the FMR1 locus], URL:[]

This article provides a study where the authors looked at genome-wide methylation in peripheral blood and in stem cells from both control and Fragile X positive individuals and concludes that methylation doesn't occur in loci not related to FMR1. Coffee B, Ikeda M, Budimirovic DB, Hjelm LN, Kaufmann WE, et al. American Journal of Medical Genetics. Part A. May 15, 2008. Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature., URL:[]

Particularly interesting review article that shows that deletions, and not just expansions, of FMR1 can also cause the Fragile-X syndrome disorder.

Garber KB, Visootsak J, Warren ST. European Journal of Human Genetics. June, 2008. Fragile X syndrome., URL: [] → Link to free full text from PubMed; []

General review and overview of the disease, also covering protein made from the FMR1 gene and how these contribute to the phenotype of the disorder.

Swaminathan N. Scientific American. June 26, 2007. Scientists Reverse Mental Retardation in Mice., URL: [][|mental-retardation-in-mice]

An article that describes research results conducted by M.I.T. scientists that were able to reverse brain damage caused by Fragile-X Syndrome in mice via blocking of enzymes.

__ Bioinformatics/Genomic Tools __
**__BLASTp:__** [|http://blast.ncbi.nlm.nih.gov/Blast.cgiPROGRAM=blastp&PAGE_TYPE=] __[|BlastSearch&LINK_LOC=blasthome]__ This tool was used in order to find sequence data and information on the FMR1 protein, and BLASTp also allows for exportation of it's FASTA sequence to use in other tools.

**__UCSC Genome Browser:__** [] I used the UCSC Genome Browser to pinpoint the location of the FMR1 gene on the X chromosome. I searched for FMR1 and the browser displayed a map for me. It was also able to show me details regarding the area the gene is located in.

**__ClaustalW alignment tool:__** [] The ClaustalW alignment tool is a tool within the MEGA program that was used to create the alignment necessary to compare the nucleotide sequences across species. This ClaustalW alignment data was also necessary in order to create the phylogenetic trees for further comparison.

**__MEGA:__** [] MEGA is a multipurpose tool that was used in this research for the purpose of creating phylogenetic trees. These trees were used as a visual aid to reinforce how closely related the FMR1 protein and its isoforms/ortholog are in multiple species alongside alignment data.

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