Familial hypertrophic cardiomyopathy

point mutations in cardiac β-myosin heavy chain gene mutations in other genes encoding contractile proteins including myosin light chains, cardiac troponin,

and tropomyosin. 

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Cohesins 

The protein ring complexes that establish linkages between sister chromatids

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Cohesins establish linkages between the replicated DNA molecules, which are essential for their accurate segregation later in the cell cycle. This linking mechanism is coupled to DNA replication.

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Cohesins are composed of four subunits: 

Smc1, Smc3, Scc1, and Scc3

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Smc1 and Smc3 are members of the structural

maintenance of chromosomes (SMC) protein family, characterized by globular domains at the N- & C-termini connected by a long α helix, bind and hydrolyze ATP.

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The ATPase domains interact with the proteins

Scc1 and Scc3, which together form a cohesin ring structure which embrace one or both copies of the replicated DNA.

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#Id: 8858

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Cohesin-mediated cohesion between sister chromatids is established by a two-step process:

1.Loading and unloading of cohesins

2. Stabilization of cohesins