Fragile-X+Genomics+Data

__Are the FMR1 genes similar across species? Which is closest to humans? __
In order to discover if the FMR1 gene was similar across several species, research was conducted using several tools. The FMR1 gene is quite large, and the FMR1 protein had to be used instead in a BLASTp search to receive the sequence and detailed information on the protein. The BLASTp search list comprised of the following species that were integrated into the research:


 * = __**Organism**__ ||= __**Type of Protein**__ ||= __**Accession**__ ||
 * = Fruit Fly ||= FMR1 IsoformA Protein ||= NP_611645.1 ||
 * = Chinese Hamster ||= FMR1-Related Protein ||= NP_001233685.1 ||
 * = Brown Rat ||= FMR1 Homolog Protein ||= NP_434691.1 ||
 * = African Clawed Frog ||= FMR1 HomologA Protein ||= NP_001079156.1 ||
 * = Zebra Finch ||= FMR1 Protein ||= NP_001129591.1 ||
 * = House Mouse ||= FMR1 Isoform1 Protein ||= NP_001106659 ||
 * = Zebrafish ||= FMR1 Protein ||= NP_694495.1 ||
 * = Zebrafish ||= FMR1-RelatedOrthologs Protein ||= NP_958458.1 ||
 * = Western Clawed Frog ||= FMR1 Homolog Isoform1 Protein ||= NP_001263426.1 ||
 * = Cow/Cattle ||= FMR1 Protein ||= NP_001179079.1 ||
 * = Human ||= FMR1 Isoform ISO1 Protein ||= NP_002015.1 ||
 * = House Mouse ||= FMR1 Homolog Protein ||= NP_032057.2 ||



From the alignment a phylogenetic tree was created:



From the alignment and tree data, it became easier to determine which species were most similar to humans in regard to the FMR1 protein. The House Mouse and the Brown Rat are the most closely related and have the most similar FMR1 proteins. What does this mean?

__ Future treatment and cures __
If experiments can be conducted on these models, then it may pave the way for a new treatment or cure for this disorder. In the research conducted on this subject, a Dr. Mansuo Hayashi of the Massachusetts Institute of Technology (MIT) actually has conducted research on mice. He conducted an experiment in which he mutated two different groups of mice, one to emulate the affliction of Fragile-X Syndrome by hypermethylating their CGG trinucleotide and the other group was mutated to inhibit an enzyme in their nervous system which inhibits cell production called p21-activated kinase (PKA), which in turn strengthens dendrites. PAK is an enzyme that regulates the protein actin, and actin assists in the formation of cell structures such as dendrites. When PAK is inhibited, more actin is free to help shape cells, as it is not being as heavily regulated. Hayashi mated these two mutant mice groups, and the offspring seemed to have stronger dendrites and nueral cells while also being cured of any Fragile-X Syndrome characteristics that were present in their mutated CGG parents (Swaminathan, 2007). Can this apply to humans? Possibly, the mouse FMR1 protein is very similar to that of the human. Only future research could shed light on this. Home