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Page 1
Cep57 regulates human centrosomes through multivalent interactions.
Yeh HW, Chen PP, Yeh TC, Lin SL, Chen YT, Lin WP, Chen T, Pang JM, Lin KT, Wang LH, Lin YC, Shih O, Jeng US, Hsia KC, Cheng HC. Yeh HW, et al. Proc Natl Acad Sci U S A. 2024 Jun 18;121(25):e2305260121. doi: 10.1073/pnas.2305260121. Epub 2024 Jun 10. Proc Natl Acad Sci U S A. 2024. PMID: 38857398 Free PMC article.
Genetic truncation mutations of Cep57 are associated with the mosaic-variegated aneuploidy (MVA) syndrome. During interphase, Cep57 forms a complex with Cep63 and Cep152, serving as regulators for centrosome maturation. However, the molecular interplay of Cep57 …
Genetic truncation mutations of Cep57 are associated with the mosaic-variegated aneuploidy (MVA) syndrome. During interphase, Cep5 …
The Cep57-pericentrin module organizes PCM expansion and centriole engagement.
Watanabe K, Takao D, Ito KK, Takahashi M, Kitagawa D. Watanabe K, et al. Nat Commun. 2019 Feb 25;10(1):931. doi: 10.1038/s41467-019-08862-2. Nat Commun. 2019. PMID: 30804344 Free PMC article.
Depletion of Cep57 causes PCM disorganization and precocious centriole disengagement during mitosis. ...Similar defects are observed in mosaic variegated aneuploidy syndrome patient cells with cep57 mutations. We also find that Cep57 binds to the well-conserv …
Depletion of Cep57 causes PCM disorganization and precocious centriole disengagement during mitosis. ...Similar defects are observed …
Cep57 and Cep57l1 function redundantly to recruit the Cep63-Cep152 complex for centriole biogenesis.
Zhao H, Yang S, Chen Q, Duan X, Li G, Huang Q, Zhu X, Yan X. Zhao H, et al. J Cell Sci. 2020 Jul 3;133(13):jcs241836. doi: 10.1242/jcs.241836. J Cell Sci. 2020. PMID: 32503940
Both Cep57 and Cep57l1 bind to the centrosomal targeting region of Cep63. The depletion of both proteins, but not either one, blocks loading of the Cep63-Cep152 complex to mother centrioles and consequently prevents centriole duplication. We propose that Cep57 and C …
Both Cep57 and Cep57l1 bind to the centrosomal targeting region of Cep63. The depletion of both proteins, but not either one, blocks …
Cep57 and Cep57L1 maintain centriole engagement in interphase to ensure centriole duplication cycle.
Ito KK, Watanabe K, Ishida H, Matsuhashi K, Chinen T, Hata S, Kitagawa D. Ito KK, et al. J Cell Biol. 2021 Mar 1;220(3):e202005153. doi: 10.1083/jcb.202005153. J Cell Biol. 2021. PMID: 33492359 Free PMC article.
However, the mechanisms underlying centriole engagement during interphase are poorly understood. Here, we show that Cep57 and Cep57L1 cooperatively maintain centriole engagement during interphase. Codepletion of Cep57 and Cep57L1 induces precocious centriole disenga …
However, the mechanisms underlying centriole engagement during interphase are poorly understood. Here, we show that Cep57 and Cep57L1 …
Requirement of the Cep57-Cep63 Interaction for Proper Cep152 Recruitment and Centriole Duplication.
Wei Z, Kim TS, Ahn JI, Meng L, Chen Y, Ryu EK, Ku B, Zhou M, Kim SJ, Bang JK, van Deursen JM, Park JE, Lee KS. Wei Z, et al. Mol Cell Biol. 2020 Apr 28;40(10):e00535-19. doi: 10.1128/MCB.00535-19. Print 2020 Apr 28. Mol Cell Biol. 2020. PMID: 32152252 Free PMC article.
Cep57 has been characterized as a component of a pericentriolar complex containing Cep63 and Cep152. ...Three-dimensional structured illumination microscopy (3D-SIM) analyses suggested that the Cep57-Cep63-Cep152 complex is concentrically arranged around a centriole …
Cep57 has been characterized as a component of a pericentriolar complex containing Cep63 and Cep152. ...Three-dimensional structured …
A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth.
Feng B, Chang G, Zhang Q, Li X, Tang Y, Gu S, Wang Y, Wang J, Wang X. Feng B, et al. Mol Genet Genomic Med. 2022 Jun;10(6):e1951. doi: 10.1002/mgg3.1951. Epub 2022 Apr 17. Mol Genet Genomic Med. 2022. PMID: 35434947 Free PMC article.
CONCLUSION: This study presents an ultra-rare case of CEP57-driven MVA syndrome, identifying a novel homozygous nonsense variant of CEP57 (p.Tyr104*). Our findings enrich the CEP57 mutational spectrum and emphasize the importance of genetic testing in patient …
CONCLUSION: This study presents an ultra-rare case of CEP57-driven MVA syndrome, identifying a novel homozygous nonsense variant of …
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.
Santos-Simarro F, Pacio M, Cueto-González AM, Mansilla E, Valenzuela-Palafoll MI, López-Grondona F, Lledín MD, Schuffelmann C, Del Pozo Á, Solis M, Vallcorba P, Lapunzina P, Menéndez Suso JJ, Siccha SM, Montejo JM, Mena R, Jiménez-Rodríguez C, García-Miñaúr S, Palomares-Bralo M. Santos-Simarro F, et al. Eur J Med Genet. 2021 Nov;64(11):104338. doi: 10.1016/j.ejmg.2021.104338. Epub 2021 Sep 7. Eur J Med Genet. 2021. PMID: 34500087 Review.
Mosaic Variegated Aneuploidy Syndrome 2 (MVA2; MIM 614114) is a rare autosomal recessive disorder, characterized by mosaic aneuploidies involving multiple chromosomes and tissues, caused by biallelic pathogenic variants in the CEP57 gene. Only 10 patients have been reporte …
Mosaic Variegated Aneuploidy Syndrome 2 (MVA2; MIM 614114) is a rare autosomal recessive disorder, characterized by mosaic aneuploidies invo …
Cep57 is a Mis12-interacting kinetochore protein involved in kinetochore targeting of Mad1-Mad2.
Zhou H, Wang T, Zheng T, Teng J, Chen J. Zhou H, et al. Nat Commun. 2016 Jan 8;7:10151. doi: 10.1038/ncomms10151. Nat Commun. 2016. PMID: 26743940 Free PMC article.
Cep57 also interacts with Mad1, and depletion of Cep57 results in decreased kinetochore localization of Mad1-Mad2, reduced SAC signalling and increased chromosome segregation errors. We also show that the microtubule-binding activity of Cep57 is involved in t …
Cep57 also interacts with Mad1, and depletion of Cep57 results in decreased kinetochore localization of Mad1-Mad2, reduced SAC …
Cep57, a NEDD1-binding pericentriolar material component, is essential for spindle pole integrity.
Wu Q, He R, Zhou H, Yu AC, Zhang B, Teng J, Chen J. Wu Q, et al. Cell Res. 2012 Sep;22(9):1390-401. doi: 10.1038/cr.2012.61. Epub 2012 Apr 17. Cell Res. 2012. PMID: 22508265 Free PMC article.
Here we show that Cep57 is a pericentriolar material (PCM) component. Its interaction with NEDD1 is necessary for the centrosome localization of Cep57. Depletion of Cep57 leads to unaligned chromosomes and a multipolar spindle, which is induced by PCM fragmen …
Here we show that Cep57 is a pericentriolar material (PCM) component. Its interaction with NEDD1 is necessary for the centrosome loca …
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
Pinson L, Mannini L, Willems M, Cucco F, Sirvent N, Frebourg T, Quarantotti V, Collet C, Schneider A, Sarda P, Geneviève D, Puechberty J, Lefort G, Musio A. Pinson L, et al. Am J Med Genet A. 2014 Jan;164A(1):177-81. doi: 10.1002/ajmg.a.36166. Epub 2013 Nov 20. Am J Med Genet A. 2014. PMID: 24259107
To date, CEP57 mutations have been reported only in four probands. We report on a girl with this disorder due to c.915-925dup11 mutation in CEP57, which predicts p.Leu309ProfsX9 and review the literature in order to facilitate genotype-phenotype correlation. Rhizome …
To date, CEP57 mutations have been reported only in four probands. We report on a girl with this disorder due to c.915-925dup11 mutat …
50 results