Plant physiological ecology and the global changes Ecofisiologia vegetal e as mudanças globais

The global changes are marked by alteration on the normal patterns of important biochemical and biophysical processes of the Earth. However, the real effects as well as the feedbacks of the global changes over vegetation are still unclear. Part of this uncertainty can be attributed to the inattention of stakeholders and scientists towards vegetation and its complex interrelations with the environment, which drive plant physiological processes in different space-time scales. Notwithstanding, some key subjects of the global changes could be better elucidated with a more plant physiological ecology approach. We discuss some issues related to this topic, going through some limitations of approaching vegetation as a static component of the biosphere as the other sub-systems of the Earth-system change. With this perspective, this review is an initial reflection towards the assessment of the role and place of vegetation structure and function in the global changes context. We reviewed the Earth-system and global changes terminology; attempted to illustrate key plant physiological ecology researches themes in the global changes context; consider approaching plants as complex systems in order to adequately quantify systems characteristics as sensibility, homeostasis, and vulnerability. Moreover, we propose insights that would allow vegetation studies and scaling procedures in the context of the Earth-system. We hope this review will assist researchers on their strategy to identify, understand and anticipate the potential effects of global changes over the most vulnerable vegetation processes from the leaf to the global levels.<br>As mudanças globais englobam importantes alterações nos padrões normais de processos bioquímicos e biofísicos da Terra. Os reais efeitos e retroalimentações das mudanças globais sobre a vegetação ainda são incertos. Parte das incertezas pode ser atribuída à falta de atenção de cientistas e políticos para a vegetação, enquanto componente do sistema terrestre. Entretanto, algumas questões sobre as mudanças globais poderiam ser mais bem esclarecidas por abordagens mais voltadas à ecofisiologia vegetal. Nesse artigo, alguns pontos relacionados e esses problemas, como as limitações em se abordar a vegetação como um componente estático da atmosfera enquanto outros subsistemas do sistema terrestre são dinâmicos, são discutidos. Dentro dessa perspectiva, essa revisão traz uma reflexão inicial do papel da vegetação, em termos de estrutura e funcionamento, no contexto das mudanças globais. Para isso, foi feita uma revisão das terminologias relacionadas às mudanças globais e ao sistema terrestre, buscou-se ilustrar alguns dos principais temas de pesquisa da ecofisiologia vegetal no contexto das mudanças globais. Foram feitas considerações em relação ao tratamento de plantas como sistemas complexos, o que é importante para o estudo de aspectos relacionados à sensibilidade, estabilidade e vulnerabilidade a variações ambientais. Finalmente, são discutidas alternativas que podem ser utilizadas para incorporar aspectos do funcionamento da vegetação, de forma dinâmica, em estudos de mudanças globais, considerando o desafio de mudança de escalas. Espera-se que essa revisão possa auxiliar pesquisadores subsidiando suas estratégias de identificação e compreensão dos efeitos potenciais das mudanças globais sobre os processos mais vulneráveis da vegetação, da folha ao globo

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

<p>Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain-hindbrain malformation known as the 'molar tooth sign'. To date, 19 causative genes have been identified, all coding for proteins of the primary cilium. There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is allelic to JSRD at nine distinct loci. We previously identified the INPP5E gene as causative of JSRD in seven families linked to the JBTS1 locus, yet the phenotypic spectrum and prevalence of INPP5E mutations in JSRD and MKS remain largely unknown. To address this issue, we performed INPP5E mutation analysis in 483 probands, including 408 JSRD patients representative of all clinical subgroups and 75 MKS fetuses. We identified 12 different mutations in 17 probands from 11 JSRD families, with an overall 2.7% mutation frequency among JSRD. The most common clinical presentation among mutated families (7/11, 64%) was Joubert syndrome with ocular involvement (either progressive retinopathy and/or colobomas), while the remaining cases had pure JS. Kidney, liver and skeletal involvement were not observed. None of the MKS fetuses carried INPP5E mutations, indicating that the two ciliopathies are not allelic at this locus.</p>

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic overlap, being allelic at several loci. One of the most interesting gene is TMEM67, encoding the transmembrane protein meckelin. We performed mutation analysis of TMEM67 in 341 probands, including 265 JSRD representative of all clinical subgroups and 76 MKS fetuses. We identified 33 distinct mutations, of which 20 were novel, in 8/10 (80%) JS with liver involvement (COACH phenotype) and 12/76 (16%) MKS fetuses. No mutations were found in other JSRD subtypes, confirming the strong association between TMEM67 mutations and liver involvement. Literature review of all published TMEM67 mutated cases was performed to delineate genotype-phenotype correlates. In particular, comparison of the types of mutations and their distribution along the gene in lethal versus non lethal phenotypes showed in MKS patients a significant enrichment of missense mutations falling in TMEM67 exons 8 to 15, especially when in combination with a truncating mutation. These exons encode for a region of unknown function in the extracellular domain of meckelin