Structure and function of the human genome

Abstract

The human genome project has had an impact on both biological research and its political organization; this review focuses primarily on the scientific novelty that has emerged from the project but also touches on its political dimensions. The project has generated both anticipated and novel information; in the later category are the description of the unusual distribution of genes, the prevalence of non-protein-coding genes, and the extraordinary evolutionary conservation of some regions of the genome. The applications of the sequence data are just starting to be felt in basic, rather than therapeutic, biomedical research and in the vibrant human origins and variation debates. The political impact of the project is in the unprecedented extent to which directed funding programs have emerged as drivers of basic research and the organization of the multidisciplinary groups that are needed to utilize the human DNA sequence.The past decade in biological research has surely been the decade of genome research-from the scientific perspective, in the public imagination, and even in the minds of international politicians. It is therefore timely to use this 10th anniversary of Genome Research to take stock of where we are and where we might be in another decade in our understanding of the human genome.The scale of the human DNA sequence must mean that no reviewer can capture all of the information it contains and therefore I concentrate on what novel information emerges from the completed sequence rather than on the detail of what we learned from each gene or each base.The Human Genome Project (HGP) has had scientific and political impacts on biological research; scientifically, it has provided a novel conceptual dimension to human biology, that of "completeness." This word captures the idea that we now have finite bounds to research because the genome sequence contains all of the information that is used in making human cells and organisms. We can soon legitimately claim to study the behavior of all of our genes in a way that was quite inconceivable prior to the availability of the sequence. Politically, the HGP is changing our perspectives on how biological research can be organized in our institutions. This review inevitably focuses on the scientific outcomes, but toward the end of the review,

PDB4DNA: Implementation of DNA geometry from the Protein Data Bank (PDB) description for Geant4-DNA Monte-Carlo simulations

“…Indeed, the precise implementation of DNA geometry is of key importance in order to take into account the spatial structure of energy depositions along the particle track generated by Monte Carlo Track Structure (MCTS) codes. However, the modeling of DNA geometries is not trivial if we keep in mind that DNA molecule for a normal human cell represents about 3.1×10 9 base pairs [4] geometrically arranged in many structural levels that evolve with time and may vary between cells of a same line. Among the variety of MCTS codes [5], the strategy consists in replicating and arranging an elementary piece of DNA to form structural levels.…”

The EuroPhysiome, STEP and a roadmap for the virtual physiological human

“…Although currently unattainable, viable elements are beginning to appear within the scientific domain. The most celebrated example is the genome (describing H. sapiens at a genetic level; International Human Genome Mapping Consortium 2001; Venter et al 2001;Little 2005), but many other examples exist, such as the 'heart physiome' (in silico description of the heart; Smith et al 2004), the GIOME (in silico description of the gastrointestinal tract; Gregersen 2006), the epitheliome (in silico description of epithelial cells; Walker et al 2004), the musculoskeletome (in silico description of the musculoskeletal system; Viceconti et al 2006;Van Sint Jan et al 2007), the renal physiome (in silico description of the kidneys; Thomas et al 2006;Chu et al 2008), etc. Already these projects are modifying the way we think about human biology, but currently they tend to function as independent entities, operating in isolation from each other.…”

Emerging Opportunities for Site-Specific Molecular and Cellular Interventions in Autoimmune Hepatitis

“…Recent clarification of the human genome [203,204] and technological advances in gene assessment [205][206][207] and inactivation [66][67][68] have afforded opportunities to explore gene-directed therapy ( Table 1).…”