A Cohesin Subunit Variant Identified from a Peripheral Sclerocornea Pedigree

Figure 4

(a) Total protein extracts were analyzed using Western blotting. The intensities of the separase cleaved RAD21 bands decreased in affected members. Normalized levels of cleaved RAD21 relative to that of II-5 are shown under the Western blot image. Protein levels of the full-length RAD21 were comparable. GAPDH is shown as loading controls. (b) Similar expressions of wild-type and C1348T RAD21 were detected in affected LCLs. (c) LCLs from affected members show normal ploidy. Metaphase chromosomes of each LCL sample were fixed and processed for chromosome counting. No significant difference in chromosome number was observed in LCLs isolated from affected and unaffected members. (d) Cell cycle profiles of each LCL. The affected LCLs did not show significant changes of cell cycle distribution.

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