Hum. Res. Note: Erratum: Biochem. (2006) identified an in-frame deletion in the Cep290 gene in association with a mouse model of early-onset retinal degeneration, 'rd16.' The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium. Based on, the most common domains among the interactors of CDKN1A are ‘Protein tyrosine kinase’, ‘Cyclin, N-Terminal domain’, ‘Cyclin, C-Terminal domain’, ‘phosphotransferase enzyme … Nature Genet. By proteomic analysis of centrosomes isolated from a human lymphoblastic cell line, followed by database analysis, Andersen et al. Genet. [Full Text], Kikuno, R., Nagase, T., Ishikawa, K., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. [PubMed: 17617513, related citations] 38: 674-681, 2006. (2004) identified sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation in 3H11Ag. Fig. The findings indicated that CEP290 is a mediator of G protein trafficking, and that the olfactory phenotype is due to defective transport of olfactory G proteins. (2006) identified the CEP290 gene on chromosome 12q21.32. Proc. (1999) cloned CEP164, which they designated KIAA1052. J. Med. [Full Text], Kim, J., Krishnaswami, S. R., Gleeson, J. G. Chaki et al. [Full Text: https://academic.oup.com/dnaresearch/article-lookup/doi/10.1093/dnares/4.2.141], Papon, J. F., Perrault, I., Coste, A., Louis, B., Gerard, X., Hanein, S., Fares-Taie, L., Gerber, S., Defoort-Dhellemmes, S., Vojtek, A. M., Kaplan, J., Rozet, J. M., Escudier, E. (from NCBI), Andersen, J. S., Wilkinson, C. J., Mayor, T., Mortensen, P., Nigg, E. A., Mann, M. review the literature and organize it to facilitate your work. Among the families in which mutations of the CEP290 gene were associated with both Joubert syndrome (JBTS5; 610188) and Leber congenital amaurosis-10 (LCA10; 611755), the nonsense mutation lys1575-to-ter (K1575X) was the most frequent mutation, having been observed in 8 families (Brancati et al., 2007). Cep164, a novel centriole appendage protein required for primary cilium formation. [Full Text: http://www.pnas.org/cgi/pmidlookup?view=long&pmid=17898177], Menotti-Raymond, M., David, V. A., Schaffer, A. | The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (2007) provided evidence that CEP290 may mediate G protein trafficking in certain tissues. This mutation was detected in 16 (21%) of 76 unrelated patients with LCA, either homozygously or in combination with a second deleterious mutation on the other allele. Molecular cloning of a tumor-associated antigen recognized by monoclonal antibody 3H11. 5.. Herpesvirus restriction by TRIM43 is dependent on PCNT degradation. Dev. Cellular studies showed that CEP164 is involved in the DNA repair response, suggesting that defects in the DNA repair response signaling pathway may contribute to the pathogenesis of NPHP and related ciliopathies. [Full Text: http://www.tandfonline.com/doi/full/10.4161/cc.8.4.7844], Sivasubramaniam, S., Sun, X., Pan, Y.-R., Wang, S., Lee, E. Y.-H. P. (2006) found that the affected individuals had a splice defect in the CEP290 gene caused by an intronic mutation (2991+1655A-G) that created a strong splice donor site and inserted a cryptic exon in the CEP290 mRNA. Nat. 31: 1097-1108, 2010. (2007) performed mutation analysis on a worldwide cohort of 75 families with Senior-Loken syndrome, 99 families with Joubert syndrome, and 21 families with isolated nephronophthisis. Mutation in CEP290 discovered for cat model of human retinal degeneration. In an analogy to genes previously identified as mutated in nephronophthisis (NPHP; see 256100), Sayer et al. 44: 657-663, 2007. Am. [Full Text: https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddn277], Lancaster, M. A., Gopal, D. J., Kim, J., Saleem, S. N., Silhavy, J. L., Louie, C. M., Thacker, B. E., Williams, Y., Zaki, M. S., Gleeson, J. G. 18: 4226 only, 2009. (2007) found that the G1890X mutation of CEP290 had been observed in 10 families and that affected individuals in these families had Joubert syndrome-related disorders only, i.e., no Leber congenital amaurosis. [PubMed: 17507457] HHS The CEP290 gene encodes a centrosomal protein involved in ciliary assembly and ciliary trafficking (summary by Coppieters et al., 2010). (1997) cloned KIAA0373. 281: 1356-1357, 2001. Nature 426: 570-574, 2003. Helou et al. [Full Text], Sivasubramaniam, S., Sun, X., Pan, Y.-R., Wang, S., Lee, E. Y.-H. P. [PubMed: 17554762, related citations] Both CEP290 and PCM1 were required for ciliogenesis and ciliary targeting of RAB8A, a small GTPase that promotes ciliogenesis in conjunction with the BBS protein complex (see BBS1, 209901). Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
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