RESUMEN
Protein ubiquitination is extensively involved in the regulation of a considerable number of physiological processes in plant cells. E2 (ubiquitin-conjugating enzyme, UBC), one of the essential enzymes of eukaryotic ubiquitination, catalyzes protein ubiquitination together with E1 and E3. In this study, we cloned four full-length cDNA NnUBCs of Nelumbo nucifera. With the same coding sequence length of 459 bp and coding 153 amino acids, these four genes are highly homologous with the AtUBC1 and AtUBC2 of Arabidopsis thaliana. Quantitative fluorescence polymerase chain reaction showed that these four genes exhibited different expression patterns in different tissues of N. nucifera. Overall, the expression of NnUBC3 was the highest in all plant tissues. Tests of different stress treatments showed that NnUBC3 plays an important role in response to heat, salt, and drought stresses in N. nucifera. Moreover, transgenic Arabidopsis plants (Atubc1-1Atubc2-1 mutant) expressing NnUBC3 presented a wild-type phenotype, indicating that NnUBC3 performs the same function as AtUBC1 and AtUBC2.
Asunto(s)
Nelumbo/enzimología , Proteínas de Plantas/genética , Enzimas Ubiquitina-Conjugadoras/genética , Secuencia de Aminoácidos , Arabidopsis , Secuencia de Bases , Clonación Molecular , Expresión Génica , Nelumbo/genética , Filogenia , Proteínas de Plantas/metabolismo , Homología de Secuencia de Aminoácido , Estrés Fisiológico , Enzimas Ubiquitina-Conjugadoras/metabolismoRESUMEN
We conducted a case-control study to assess the role of vascular endothelial growth factor (VEGF) -634G/C, +936C/T, and +1612G/A genetic variations in the development of osteosarcoma in a Chinese population. This hospital-based case-control study examined 130 patients with osteosarcoma and 130 age- and gender-matched healthy controls from March 2011 and March 2013. Polymerase chain reaction-restriction fragment length polymorphism was applied to assess the VEGF -634G/C, +936C/T, and +1612G/A gene polymorphisms. Using conditional regression analysis, individuals carrying the TT genotype of VEGF +936C/T were found to be correlated with an elevated risk of osteosarcoma, with an adjusted odds ratio (95% confidence interval) of 2.70 (1.02-8.28). In conclusion, our study suggests that the TT genotype of VEGF +936C/T genetic variants is associated with an increased risk of osteosarcoma.
Asunto(s)
Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Osteosarcoma/genética , Factor A de Crecimiento Endotelial Vascular/genética , Adulto , Pueblo Asiatico , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Osteosarcoma/patología , Factores de RiesgoRESUMEN
Holoprosencephaly (HPE) is genetically heterogeneous with four genes, SIX3, SHH, TGIF, and ZIC2 that have been identified to date and that are altered in 12% of patients. To analyze this prevalence in a South American population-based sample (57 HPE cases in 244,511 live and still births or 1 in 4300), we performed a mutational study of these genes in 30 unrelated children (26 newborns and 4 non-newborns) with HPE being ascertained by ECLAMC (Latin American Collaborative Study of Congenital Malformations). We identified three novel mutations: two were missense mutations of the SHH gene (Cys183-->Phe; His140-->Pro); the third mutation was a 2-bp deletion in the zinc-finger region of the ZIC2 gene. These molecular results explained 8% (2/26 newborn samples) of the HPE cases in this South American population-based sample, a proportion similar to our previously published data from a collection of cases.