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A proteína da síndrome oral-facial-digital 1 é uma proteína que em humanos é codificada pelo gene OFD1.[1][2]
Função
A região cromossômica humana Xp22.3-p21.3 compreende a área entre o limite pseudoautossômico e o gene da distrofia muscular de Duchenne (MIM 300377).[3] Esta região abriga vários loci de doenças, incluindo OFD1 (MIM 311200), CFNS (MIM 304110), DFN6 (MIM 300066) e SEDT (MIM 313400). Ele também contém uma região de homologia com os braços curto e longo do cromossomo Y e sofre rearranjos cromossômicos frequentes.[4]
Referências
- ↑ academic.oup.com https://academic.oup.com/hmg/article/6/7/1163/571831?login=false. Consultado em 28 de agosto de 2023
- ↑ de Conciliis, Lisa; Marchitiello, Anna; Wapenaar, Martin C; Borsani, Giuseppe; Giglio, Sabrina; Mariani, Margherita; Consalez, Gian Giacomo; Zuffardi, Orsetta; Franco, Brunella (15 de julho de 1998). «Characterization ofCxorf5(71-7A), a Novel Human cDNA Mapping to Xp22 and Encoding a Protein Containing Coiled-Coil α-Helical Domains». Genomics (2): 243–250. ISSN 0888-7543. doi:10.1006/geno.1998.5348. Consultado em 28 de agosto de 2023
- ↑ «PubMed Links for id: 237222 - Search Results - PubMed». PubMed (em inglês). Consultado em 28 de agosto de 2023
- ↑ «OFD1 OFD1 centriole and centriolar satellite protein [Homo sapiens (human)] - Gene - NCBI». www.ncbi.nlm.nih.gov. Consultado em 28 de agosto de 2023
Leitura adicional
- Alitalo T, Francis F, Kere J, et al. (1995). «A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes». Genomics. 25 (3): 691–700. PMID 7759104. doi:10.1016/0888-7543(95)80012-B
- Maruyama K, Sugano S (1994). «Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides». Gene. 138 (1–2): 171–4. PMID 8125298. doi:10.1016/0378-1119(94)90802-8
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). «Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library». Gene. 200 (1–2): 149–56. PMID 9373149. doi:10.1016/S0378-1119(97)00411-3
- Brzustowicz LM, Farrell S, Khan MB, Weksberg R (1999). «Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome». Am. J. Hum. Genet. 65 (3): 779–83. PMC 1377986
 . PMID 10441586. doi:10.1086/302527
- Ferrante MI, Giorgio G, Feather SA, et al. (2001). «Identification of the gene for oral-facial-digital type I syndrome». Am. J. Hum. Genet. 68 (3): 569–76. PMC 1274470. PMID 11179005. doi:10.1086/318802
- Emes RD, Ponting CP (2002). «A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration». Hum. Mol. Genet. 10 (24): 2813–20. PMID 11734546. doi:10.1093/hmg/10.24.2813
- Rakkolainen A, Ala-Mello S, Kristo P, et al. (2002). «Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1». J. Med. Genet. 39 (4): 292–6. PMC 1735103. PMID 11950863. doi:10.1136/jmg.39.4.292
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). «Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences». Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. PMC 139241. PMID 12477932. doi:10.1073/pnas.242603899
- Romio L, Wright V, Price K, et al. (2003). «OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells». J. Am. Soc. Nephrol. 14 (3): 680–9. PMID 12595504. doi:10.1097/01.ASN.0000054497.48394.D2
- Ferrante MI, Barra A, Truong JP, et al. (2004). «Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant». Genomics. 81 (6): 560–9. PMID 12782125. doi:10.1016/S0888-7543(03)00091-0
- Andersen JS, Wilkinson CJ, Mayor T, et al. (2003). «Proteomic characterization of the human centrosome by protein correlation profiling». Nature. 426 (6966): 570–4. Bibcode:2003Natur.426..570A. PMID 14654843. doi:10.1038/nature02166
- Romio L, Fry AM, Winyard PJ, et al. (2005). «OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis». J. Am. Soc. Nephrol. 15 (10): 2556–68. PMID 15466260. doi:10.1097/01.ASN.0000140220.46477.5C
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). «The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)». Genome Res. 14 (10B): 2121–7. PMC 528928. PMID 15489334. doi:10.1101/gr.2596504
- Thauvin-Robinet C, Cossée M, Cormier-Daire V, et al. (2006). «Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study». J. Med. Genet. 43 (1): 54–61. PMC 2564504. PMID 16397067. doi:10.1136/jmg.2004.027672
- Budny B, Chen W, Omran H, et al. (2007). «A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome». Hum. Genet. 120 (2): 171–8. PMID 16783569. doi:10.1007/s00439-006-0210-5
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