Molecular Genetics Of Retinoschisis

Retinoschisis was first mapped to Xp22 and then the RS! gene was identified by positional cloning.[19] RS! contains six exons and encodes a 224-amino acid protein called retinoschisin. Studies indicate that the protein is secreted by retinal cells as a disulfide-linked oligomeric protein complex, and that it is associated with the cell surface of all retinal neurons except adult horizontal cells.[20-22] Retinoschisin may function as a cell adhesion protein to maintain the integrity of the central and peripheral retina. The polypeptide consists of a leader sequence with a putative signal peptidase cleavage site and a highly conserved region in exons 4-6 known as a discoidin domain.[19] Discoidin domains are present in a family of extracellular or transmembrane proteins implicated in cell-cell adhesion or cell-matrix interactions—functions which correlate well with the observed splitting of the retina in RS.[23,24] Mutations cluster within the discoidin domain, exons 4-6, suggesting that this domain is essential for the normal function of retinoschisin.[25,26] Retinoschisin contains a high number of cysteine residues, 10 in total. Most mutations are missense mutations located in the discoidin domain of retinoschisin, with over 25% involving the loss or gain of a cysteine residue. Over 125

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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