Los secretos del genoma

El genoma es la tabla periódica de la biología sobre la cual vamos a conocer cómo funcionamos, qué riesgos tenemos para desarrollar enfermedades y cómo desarrollar las herramientas terapéuticas para combatirlas. Tal como expone el autor en este artículo, la medicina es la disciplina que va a obtener los principales avances y las principales ventajas del desciframiento del genoma. = The genome is a periodical table of biology that will inform us on how our bodies work, what are chances we have to develop certain illnesses and how to develop therapeutic tools to fight them. As the author describes, medicine is the discipline that will benefit from new and core advances resulting from deciphering the genome

A cuestas con la información del genoma

Mientras unos ven en la información del genoma la revolución que cambiará todos los aspectos de nuestra vida y de nuestra economía, otros siguen mirando al futuro con los prismáticos del revés. Para el autor, el conocimiento del genoma no representa ni ninguna moda ni ningún reclamo para obtener más recursos para investigar, sino una oportunidad para decidir si se quiere formar parte de pleno derecho de la revolución biológica que marca la entrada del nuevo milenio. = While some see genome information as responsible for a revolution that will change all aspects of life and develop a new economy, others seem to be looking through the wrong end of the binoculars. For the author, genome knowledge does not correspond to a short-lived fashion or trend, or an attraction to obtain funding for research. We are being granted the opportunity to join this biological revolution with all the rights it entails, a transformation that may be the landmark of this new millennium

Human genetics branches out in Barcelona

A report of the European Human Genetics Conference, Barcelona, Spain, 31 May-3 June 2008

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence

BACKGROUND: Previous studies have suggested that recent segmental duplications, which are often involved in chromosome rearrangements underlying genomic disease, account for some 5% of the human genome. We have developed rapid computational heuristics based on BLAST analysis to detect segmental duplications, as well as regions containing potential sequence misassignments in the human genome assemblies. RESULTS: Our analysis of the June 2002 public human genome assembly revealed that 107.4 of 3,043.1 megabases (Mb) (3.53%) of sequence contained segmental duplications, each with size equal or more than 5 kb and 90% identity. We have also detected that 38.9 Mb (1.28%) of sequence within this assembly is likely to be involved in sequence misassignment errors. Furthermore, we have identified a significant subset (199,965 of 2,327,473 or 8.6%) of single-nucleotide polymorphisms (SNPs) in the public databases that are not true SNPs but are potential paralogous sequence variants. CONCLUSION: Using two distinct computational approaches, we have identified most of the sequences in the human genome that have undergone recent segmental duplications. Near-identical segmental duplications present a major challenge to the completion of the human genome sequence. Potential sequence misassignments detected in this study would require additional efforts to resolve

Intersectin 2, a new multimodular protein involved in clathrin-mediated endocytosis11The sequence data reported in this paper have been submitted to GenBank and have been assigned the accession numbers AF182198 and AF182199.

AbstractIntersectin 1 (ITSN1) is a binding partner of dynamin that has been shown to participate in clathrin-mediated endocytosis. Here we report the characterization of a new human gene, ITSN2, highly similar to ITSN1. Alternative splicing of ITSN2 generates a short isoform with two EH domains, a coiled-coil region and five SH3 domains, and a longer isoform containing extra carboxy domains (DH, PH and C2 domains), suggesting that it could act as a guanine nucleotide exchange factor for Rho-like GTPases. ITSN2 expression analysis indicates that it is widely expressed in human tissues. Intersectin 2 isoforms show a subcellular distribution similar to other components of the endocytic machinery and co-localize with Eps15. Moreover, their overexpression, as well as the corresponding ITSN1 protein forms, inhibits transferrin internalization

Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability

BACKGROUND: Copy number variants (CNVs) account for a significant proportion of normal phenotypic variation and may have an important role in human pathological variation. The α-defensin cluster on human chromosome 8p23.1 is one of the better-characterized CNVs, in which high copy number variability affecting the DEFA1 and DEFA3 genes has been reported. Moreover, the DEFA3 gene has been found to be absent in a significant proportion of control population subjects. CNVs involving immune genes, such as α-defensins, are possibly contributing to innate immunity differences observed between individuals and influence predisposition and susceptibility to disease. RESULTS: We have tested the DEFA3 absence in 697 samples from different human populations. The proportion of subjects lacking DEFA3 has been found to vary from 10% to 37%, depending on the population tested, suggesting differences in innate immune function between populations. Absence of DEFA3 was correlated with the region's haplotype block structure. African samples showed a higher intra-populational variability together with the highest proportion of subjects without DEFA3 (37%). Association analysis of DEFA3 absence with 136 SNPs from a 100-kb region identified a conserved haplotype in the Caucasian population, extending for the whole region. CONCLUSION: Complexity and variability are essential genomic features of the α-defensin cluster at the 8p23.1 region. The identification of population differences in subjects lacking the DEFA3 gene may be suggestive of population-specific selective pressures with potential impact on human health

Geolocalisation of athletes for out-of-competition drug testing: ethical considerations. Position statement by the WADA Ethics Panel

Through the widespread availability of location-identifying devices, geolocalisation could potentially be used to place athletes during out-of-competition testing. In light of this debate, the WADA Ethics Panel formulated the following questions: (1) should WADA and/or other sponsors consider funding such geolocalisation research projects?, (2) if successful, could they be proposed to athletes as a complementary device to Anti-Doping Administration and Management System to help geolocalisation and reduce the risk of missed tests? and (3) should such devices be offered on a voluntary basis, or is it conceivable that they would be made mandatory for all athletes in registered testing pools? In this position paper, the WADA Ethics Panel concludes that the use of geolocalisation could be useful in a research setting with the goal of understanding associations between genotype, phenotype and environment; however, it recognises that the use of geolocalisation as part of or as replacement of whereabouts rules is replete with ethical concerns. While benefits remain largely hypothetical and minimal, the potential invasion of privacy and the data security threats are real. Considering the impact on privacy, data security issues, the societal ramifications of offering such services and various pragmatic considerations, the WADA Ethics Panel concludes that at this time, the use of geolocalisation should neither be mandated as a tool for disclosing whereabouts nor implemented on a voluntary basis