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Cp55 Case Study

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More recently, loss of CEP55 function due to presence of truncated mutation in the C-terminal region of CEP55 (p.S425X) has been shown to cause a novel autosomal recessive syndrome affecting neuronal mitosis called MARCH (Multinucleated neurons, Anhydramnios, Renal dysplasia, Cerebellar hypoplasia and Hydranencephaly) [274]. Hydranencephaly is a congenital anomaly wherein the cerebral hemisphere of the brain is replaced by fluid-filled cyst. Frosk et al. reported presence of homozygous nonsense mutation in CEP55 which resulted in truncation of CEP55 mRNA in patient sample. They also expressed the truncated form of CEP55 in COS-7 cells and observed that the truncated protein (~40 amino acid short), fails to localize to the midbody that …show more content…

CIN70 along with its subset CIN25 significantly correlate with clinical outcome and distant metastasis. In addition, CEP55 is part of a CIN signature of 10 genes whose high expression leads to drug resistance, chromosomal instability and cell proliferation [277]. A separate genetic screen in prostate cancer highlighted CEP55 to be part of the 31-gene cell-cycle progression (CCP) signature that strongly correlates with actively proliferating prostate cancer cells [278]. They also illustrated that in combination with other clinical parameters such as tumor stage, margin status and prostate-specific antigen (PSA) levels results in a ‘combined score’ that matched the highly predictive ten-years fatality risk of patients [279]. Montero-Conde et al. have shown in that CEP55 is included in the set of 23 genes whose overexpression is associated with poor prognosis of thyroid cancer [280]. An independent study has shown that CEP55 overexpression is part of a 39 gene signature and linked to distant metastasis in renal cancer [281]. Similarly, another study has listed CEP55 as part of 100 gene signature for CIN in ovarian, breast and colon cancer [282]. Consistently, Al-Ejeh et al. have shown that CEP55 is part of 206 gene signatures, representing genes enriched in promoting CIN, associated with aggressiveness in triple negative breast cancer (TNBC) [283]. In addition, multiple studies have defined the

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