RESUMO
Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous γH2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the α-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-α primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.
Assuntos
Anormalidades Múltiplas/genética , Predisposição Genética para Doença/genética , Telangiectasia Retiniana/genética , Proteínas de Ligação a Telômeros/genética , Telômero/patologia , Sequência de Bases , Citometria de Fluxo , Histonas/metabolismo , Dados de Sequência Molecular , Telangiectasia Retiniana/patologia , Análise de Sequência de DNA/métodosRESUMO
The concept of biostimulation i.e. enhancing the intrinsic degradation potential of a polluted matrix via the addition of amendments, nutrients, or other limiting factors has been used for a wide variety of xenobiotics. The objective of this research work was to study the degradation of atrazine (25 ppm) in soil amended with biogas slurry, mushroom spent compost, farmyard manure and sodium citrate as one of the chemical amendment. In the lab scale experiments carried out up to 21 days, atrazine in soil was extracted by column method and analyzed by HPLC. The atrazine dissipation was observed to be highest (34%) with biogas slurry. The study on synergistic effect of sodium citrate with farmyard manure showed a negative effect in initial phase, but dissipation gradually increased after 1st week (i.e. 32% degradation after 21 days). Although addition of organic manures has been an integral part of sustainable agriculture practices; the present findings give a new dimension of it's utilization for removal of persistent pesticides.
Assuntos
Atrazina/metabolismo , Poluição Ambiental , Herbicidas/metabolismo , Esterco , Esgotos , Solo , Atrazina/isolamento & purificação , Biodegradação Ambiental/efeitos dos fármacos , Citratos/farmacologia , Herbicidas/isolamento & purificação , Padrões de Referência , Citrato de Sódio , Fatores de TempoRESUMO
Marshall-Smith syndrome is characterized by overgrowth, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable mental retardation. Respiratory problems are a major cause of early morbidity and mortality. Ocular features have been mentioned in previous reports, but details are limited. This report describes the clinical features of a child with typical features of Marshall-Smith syndrome with emphasis on visual function. She had megalocornea, hypoplastic optic discs and was partially sighted. Aggressive management of the early respiratory and feeding problems improved survival in this child.
