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Centrosomal organization of Cep152 provides flexibility in Plk4 and procentriole positioning.
Sullenberger C, Kong D, Avazpour P, Luvsanjav D, Loncarek J. Sullenberger C, et al. J Cell Biol. 2023 Dec 4;222(12):e202301092. doi: 10.1083/jcb.202301092. Epub 2023 Sep 14. J Cell Biol. 2023. PMID: 37707473 Free PMC article.
Centriole duplication is a high-fidelity process driven by Polo-like kinase 4 (Plk4) and a few conserved initiators. Dissecting how Plk4 and its receptors organize within centrosomes is critical to understand the centriole duplication process and biochemical and architectu …
Centriole duplication is a high-fidelity process driven by Polo-like kinase 4 (Plk4) and a few conserved initiators. Dissecting how Plk4 and …
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. ...Thus, these findings reveal that the KMN network-binding protein Cep57 …
Cep57 also interacts with Mad1, and depletion of Cep57 results in decreased kinetochore localization of Mad1-Mad2, reduced SAC …
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 …
Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression.
Aziz K, Sieben CJ, Jeganathan KB, Hamada M, Davies BA, Velasco ROF, Rahman N, Katzmann DJ, van Deursen JM. Aziz K, et al. J Clin Invest. 2018 Aug 1;128(8):3517-3534. doi: 10.1172/JCI120316. Epub 2018 Jul 23. J Clin Invest. 2018. PMID: 30035751 Free PMC article.
A homozygous truncating frameshift mutation in CEP57 (CEP57T/T) has been identified in a subset of mosaic-variegated aneuploidy (MVA) patients; however, the physiological roles of the centrosome-associated protein CEP57 that contribute to disease are u …
A homozygous truncating frameshift mutation in CEP57 (CEP57T/T) has been identified in a subset of mosaic-variegated aneuploidy (MVA) …
Identification and validation of HOXD3 and UNC5C as molecular signatures in keloid based on weighted gene co-expression network analysis.
Wang H, Zhou Z, Liu Y, Wang P, Chen L, Qi S, Xie J, Tang J. Wang H, et al. Genomics. 2022 Jul;114(4):110403. doi: 10.1016/j.ygeno.2022.110403. Epub 2022 Jun 13. Genomics. 2022. PMID: 35709926 Free article.
RESULTS: A total of 640 DEGs specific to keloid day42 versus day0 samples were detected. 69 key module genes were uncovered and implicated in 'NCAM signaling for neurite out-growth', 'oncogenic MAPK signaling', 'transmission across chemical synapses' pathways, and the mitotic cel …
RESULTS: A total of 640 DEGs specific to keloid day42 versus day0 samples were detected. 69 key module genes were uncovered and implicated i …
Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?
Pezzani L, Pezzoli L, Pansa A, Facchinetti B, Marchetti D, Scatigno A, Lincesso AR, Perego L, Pingue M, Pellicioli I, Migliazza L, Mangili G, Galletti L, Giussani U, Bonanomi E, Cereda A, Iascone M. Pezzani L, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1064. doi: 10.1002/mgg3.1064. Epub 2020 Jan 14. Mol Genet Genomic Med. 2020. PMID: 31943948 Free PMC article.
RESULTS: WES detected two different homozygous variants, one in CEP57, the gene responsible for mosaic variegated aneuploidy syndrome 2, the other in DYNC2H1, the main gene associated with short-rib thoracic dysplasia. ...
RESULTS: WES detected two different homozygous variants, one in CEP57, the gene responsible for mosaic variegated aneuploidy syndrome …
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 …
The APC/C targets the Cep152-Cep63 complex at the centrosome to regulate mitotic spindle assembly.
Tischer T, Yang J, Barford D. Tischer T, et al. J Cell Sci. 2022 Jan 15;135(2):jcs259273. doi: 10.1242/jcs.259273. Epub 2022 Jan 18. J Cell Sci. 2022. PMID: 34878135 Free PMC article.
Recruitment of the APC/C to spindle poles requires the centrosomal protein Cep152, and we identified Cep152 as both an APC/C interaction partner and an APC/C substrate. Previous studies have shown that Cep152 forms a complex with Cep57 and Cep63. The APC/C-me …
Recruitment of the APC/C to spindle poles requires the centrosomal protein Cep152, and we identified Cep152 as both an APC/C i …
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. ...This report describes th …
Mosaic Variegated Aneuploidy Syndrome 2 (MVA2; MIM 614114) is a rare autosomal recessive disorder, characterized by mosaic aneuploidi …
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 …
19 results