Dissecting the Transcriptional Regulatory Properties of Human Chromosome 16 Highly Conserved Non-Coding Regions

Non-coding DNA conservation across species has been often used as a predictor for transcriptional enhancer activity. However, only a few systematic analyses of the function of these highly conserved non-coding regions (HCNRs) have been performed. Here we use zebrafish transgenic assays to perform a systematic study of 113 HCNRs from human chromosome 16. By comparing transient and stable transgenesis, we show that the first method is highly inefficient, leading to 40% of false positives and 20% of false negatives. When analyzed in stable transgenic lines, a great majority of HCNRs were active in the central nervous system, although some of them drove expression in other organs such as the eye and the excretory system. Finally, by testing a fraction of the HCNRs lacking enhancer activity for in vivo insulator activity, we find that 20% of them may contain enhancer-blocking function. Altogether our data indicate that HCNRs may contain different types of cis-regulatory activity, including enhancer, insulators as well as other not yet discovered functions

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.

In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Thus, it is important to formulate on a regular basis updated guidelines for monitoring autophagy in different organisms. Despite numerous reviews, there continues to be confusion regarding acceptable methods to evaluate autophagy, especially in multicellular eukaryotes. Here, we present a set of guidelines for investigators to select and interpret methods to examine autophagy and related processes, and for reviewers to provide realistic and reasonable critiques of reports that are focused on these processes. These guidelines are not meant to be a dogmatic set of rules, because the appropriateness of any assay largely depends on the question being asked and the system being used. Moreover, no individual assay is perfect for every situation, calling for the use of multiple techniques to properly monitor autophagy in each experimental setting. Finally, several core components of the autophagy machinery have been implicated in distinct autophagic processes (canonical and noncanonical autophagy), implying that genetic approaches to block autophagy should rely on targeting two or more autophagy-related genes that ideally participate in distinct steps of the pathway. Along similar lines, because multiple proteins involved in autophagy also regulate other cellular pathways including apoptosis, not all of them can be used as a specific marker for bona fide autophagic responses. Here, we critically discuss current methods of assessing autophagy and the information they can, or cannot, provide. Our ultimate goal is to encourage intellectual and technical innovation in the field

Surdez, redes sociais e proteção social Deafness, social network and social protection

A surdez traz repercussões na vida do indivíduo que por ela é afetado, assim como na vida da família, que usualmente deve modificar sua dinâmica para adequar-se às necessidades e demandas que a perda auditiva impõe. Muitas vezes, para isso, a família mobiliza recursos internos, mas também busca apoio e ajuda fora de seu núcleo, em uma rede de recursos externos. Descrever as redes sociais acessadas pelas famílias de surdos na busca de sua reprodução cotidiana é um dos objetivos a que este texto se propõe. Ainda, busca discutir o significado dessas redes no contexto da proteção social. Para isso, pesquisa qualitativa foi desenvolvida, através de entrevistas semiestruturadas com dezoito pais de crianças ou adolescentes surdos, usuários de programas de atendimento em um centro de reabilitação. O mapeamento das redes de relacionamentos e de recursos sociais acessados por famílias de pessoas surdas mostrou o entrelaçamento de relações entre os familiares, demais parentes, amigos, vizinhos, profissionais, organizações privadas e serviços públicos. As redes cumprem papel de apoio e proteção social para a família da pessoa surda na reprodução cotidiana da vida.<br>Deafness brings consequences to deaf people's life as well as to their families, who usually has its dynamic changed in the struggle to adapt to the new needs and demands. In this sense, the families not only use their internal resources, but also, they look for help and support out of their group, in their social network. The goal of this paper is to describe the social network used by families with a deaf member in their everyday life. Also, it discusses the meaning of these networks in the framework of social protection. A qualitative research was developed, using a semi-structured interview to collect data. Eighteen parents of deaf children or teenager assisted at a center of rehabilitation were interviewed. Mapping the networks of relationships and social resources that the families of a deaf person use to deal with deafness showed the interconnection between family members, other relatives, friends, neighbors, professionals, private and public services. The networks play an important role of support and social protection to the deaf person's family in the everyday life