The Mutation Of Proteins That Affect The Cohesin Pathway

2534 WordsNov 19, 201411 Pages
“Cohesinopathies” is a term use to describe the mutation of proteins that affect the cohesin pathway. One of the identified cohesinopathies is Roberts Syndrome. Roberts syndrome, abbreviated RBS, is a rare autosomal recessive disorder characterized by a disruption within the cell division causing tetraphocomelia , microcephaly , cleft lip and eye abnormalities (1). There are a total of 141 people affected with this disease which gave rise to about 0.62 people infected per 100,000. Children with RBS are often times born with shortened limbs or severe facial abnormalities. Although the mortality rate of those that were infected with the disease was not reported, but for those that have survived needed surgery. In many cases, pregnancies were…show more content…
During prophase the spindle fibers are developed and moving towards opposite poles. During metaphase the chromatids aligns at the plane of the cell equator. During anaphase, the paired sister chromatids are separated and each move towards one pole, at this point the cohesin at the centromere are removed. Cohesin, a protein complex, plays an essential role during this process. The core subunits of the cohesin complex are: Smc 1 and 3 (structural maintenance of chromosome (5)), Rad21, and Scc 2-4 (adherin factor) which form a ring-like structure that performs cohesion on the sister chromatids in S phase and is maintained until metaphase (4). The Smc proteins contain ATPase (ABC type) at the terminal domains separated by a coiled coil domains and hinge domains which allows for interaction between the N- and C-terminals which are bridge by a heterodimer (Rad21 and Scc3 complex) (1). Cohesion process requires the Smc proteins to have the hinge domain, and ATPase activity in order for cohesin to associate with chromatin during the G1-phase (1,4). The Scc2-4 complex is required to load the cohesin complex onto chromatin (6). Scc complexes are used to mediate protein-protein interactions essential for cell division. Depletion in the protein results in severe premature sister chromatid separation (PCS) that will be discussed later (7). Once cohesion is established, Pds5 complex serves to maintain the sister chromatid structure through the G2-phase

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