Genetic diversity project fights for its life...as companies are urged to share benefits.
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Ethnicity↗
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Results for “Human Genome Diversity Project”
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Human genome project.
Genome n. [gene plus chromosome] the complete set of chromosomes containing all of the genes of an organism. For man this set of 46 per cell stretches to a 6 foot strand of DNA. Within this string of 3 billion nucleotide bases are 100,000 genes. Utilizing a 4 letter alphabet (Adenine, Guanine, Cytosine, Thymine), genes provide the blueprint for the amino acid sequence of structural protein (cell membrane, connective tissue, etc) or functional protein (hormones, enzymes, transmitters, etc). DNA replication guarantees exact gene copies and chromosome meiosis and crossing over guarantees varied gene combinations. This forms the basis for the similarity and the diversity of all of humankind: the similarity needed to perpetuate successful genes and the diversity needed for genes to respond to the weeding out process of evolution.
Ethics, Medical↗
Peptidylprolyl cis/trans isomerases (immunophilins): biological diversity--targets--functions.
Information recovered from genome sequencing projects, multiple sequence alignments, structural analyses of PPIase and published records were used in deciphering the biological diversity, functions and targets of four groups of proteins encoded by dissimilar sets of sequences whose spatial representations exhibit peptidylprolyl cis/trans isomerase activity (PPIase). In the human genome there are encoded fifteen proteins whose segments have significant homology with the sequence of 12 kDa protein which is the target of the potent immunosuppressive macrolides FK506 or rapamycin. The 12 kDa archetype of the FK506-binding protein (FKBP), known as FKBP-12a, is an abundant intracellular protein whereas other FKBPs possessing from one to four FK506-like binding domains (FKBDs) have nominal masses varying from 13 to 135 kDa. The human genome contains at least sixteen genes encoding proteins comprising one cyclosporin-A (CsA) binding domain (CLD) called cyclophilins whose nominal masses vary from 17 to 324 kDa and multiple coding segments for small cyclophilins (17-19 kDa) whose transcription levels and functions remain unknown. The third group of PPIases encoded in the genome comprises two proteins (hPin1 and hParv14) where hPin1 is an important PPIase for cell cycle. The A. thaliana, C. elegans, D. melanogaster and S. cerevisiae genomes encode a less diverse spectrum of PPIases whereas the prokaryotic genomes contain from none to three cyclophilins, from none to four genes encoding FKBPs, one distant homologue of the Pin1 protein named parvulin and the fourth group of PPIases known as trigger factors. PPIases are discretely distributed to different cellular compartments and interact with a number of targets that control a range of cellular processes. Analyses of the sequence alignments of the two groups of PPIases, namely cyclophilins and FKBPs from diverse phyla, show that in each group their sequences diverge but the amino acid residues which form the PPIase activity site and macrolide binding cavity remain well conserved in the majority of them which suggests that the spatial structures and functions of each group of PPIases remain conserved.
Amino Acid Sequence↗
The Mouse Phenome Project.
The laboratory mouse is the organism of choice for many studies in biology and medicine. Reliable phenotypic data are essential for the full utility of genotypic information emerging from efforts to sequence human and mouse genomes. The Mouse Phenome Project has been organized to help accomplish this task by establishing a collection of baseline phenotypic data on commonly used and genetically diverse inbred mouse strains and making this information publicly available through a web-accessible database. The Mouse Phenome Database (MPD) is being developed to manage these data and to provide researchers with tools for exploring both raw phenotypic data and comparative summary analyses. The MPD serves as a repository for detailed protocols and raw data. This resource enables investigators to identify appropriate strains for (1) physiological testing, (2) drug discovery, (3) toxicology studies, (4) mutagenesis, (5) modeling human diseases, (6) QTL analyses and identification of new genes and (7) unraveling the influence of environment on genotype.
Animals↗
[Ethical problems in molecular genetics and their reflection in clinical medicine].
There are at least two groups of issues connected with an impact of a realization of the "Human Genome Project": a) philosophical; b) ethical, which can be divided into four groups: 1) the influence of DNA technologies on everyday applications of bioethical principles; 2) ethical aspects of genetic diversity; 3) ethical aspects of genetic screening; 4) somatic and germ-cell gene therapy; Unlike essential philosophical issues practical realization of issues in question can be largely expressed as only revitalization of old ones and concerns: the principle of justice-equal access and priorities; protection of reproductive choices; disclosure to patients and to relatives at genetic risk (disclosure and exclusion tests); prenatal diagnosis for "mild to moderate" diseases with and without genetic indication-commercialization; insurance policy; non-directive and directive genetic counseling. Maybe there are regional and other differences, but in practice, the main ethical issues are likely to involve screening for genetic risk of common diseases of adult life e.g. hypertension, diabetes, gout, dyslipoproteinemia, genes for premature atherosclerosis, etc. because of the possible direct impact on a patient, an implication for life-insurance, employers and commercial exploitation.
Ethics, Medical↗
4th International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis. Various uses for DNA variations.
At the 4th International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis (Stockholm, Sweden, 10th-14th October 2001), approximately 100 scientists from more than 20 nations undertook a probing review of latest developments in the field. Despite impressive and still ongoing activities towards SNP discovery and validation, plus efforts towards haplotype exploitation, it was clear that supporting technologies for genotyping are way behind where they need to be. Innate complexity and large variances in aspects of genome function together pose immense challenges that are difficult to surmount in the human situation. In contrast, studies in simpler organisms and population/evolutionary genetics studies are yielding important new insights. Breakthroughs that are being made in understanding the genetic etiology of complex disease tend to involve genes of larger effect or extremely well merited candidates. Linkage studies and proximal phenotypes are being recommended, though the best way forward is still hotly debated. Consequently, many diverse and ambitious projects are underway, from which the data itself will eventually show what is and is not possible.
Genome, Human↗
UNESCO falters in bid to draft human genome treaty. United Nations Educational Scientific and Cultural Organization.
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Advisory Committees↗
[Genomics. Diversity of human nature].
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Databases, Genetic↗
Vertebrate genome sequencing: building a backbone for comparative genomics.
The human genome sequence provides a reference point from which we can compare ourselves with other organisms. Interspecies comparison is a powerful tool for inferring function from genomic sequence and could ultimately lead to the discovery of what makes humans unique. To date, most comparative sequencing has focused on pair-wise comparisons between human and a limited number of other vertebrates, such as mouse. Targeted approaches now exist for mapping and sequencing vertebrate bacterial artificial chromosomes (BACs) from numerous species, allowing rapid and detailed molecular and phylogenetic investigation of multi-megabase loci. Such targeted sequencing is complementary to current whole-genome sequencing projects, and would benefit greatly from the creation of BAC libraries from a diverse range of vertebrates.
Animals↗
Human genetics in health care.
UNLABELLED: The Human Genome Project, the mapping of our 100,000 genes and the sequencing of all of our DNA, will have major impact on biomedical research and the whole of therapeutic and preventive health care. The tracing of genetic diseases to their molecular causes is rapidly expanding diagnostic and preventive options, while the increased insights into molecular pathways open tremendous perspectives for pharmacological and genetic therapies. The design of animal model systems for the functional study of disease and development and the use of bioinformatics and biostatistics to improve our pattern recognition abilities are greatly accelerating progress. However, the optimal value from the current explosion of 'data mining' possibilities will only be gained when the basic data are made and kept publicly accessible, while at the same time safeguarding the protection of intellectual property arising from downstream inventions. This is one of the goals of the international Human Genome Organisation, established 10 years ago to assist coordinating data acquisition and exchange and societal implementation of the genome project. Additional points of major attention in this historic endeavour are the safeguarding of a worldwide balance in the contribution and benefits to countries and populations, the prevention of stigmatisation and discrimination of individuals and groups and the maintenance of respect for the diversity of our world's cultures and traditions. CONCLUSION: The acquisition and use of genomic information for health care benefit should be seen in the light of a worldwide improvement without prejudice.
Ethics, Medical↗
Genomic medicine, gene polymorphisms, and human biological diversity.
There is considerable variation in the prevalence of comorbid conditions such as malnutrition, inflammation, cardiovascular disease, and bone disease among end-stage renal disease (ESRD) patients on maintenance hemodialysis. Besides traditional risk factors, these differences also arise from variability in genetic factors and gene-environment interactions. Recent publication of the human genome sequence through the Human Genome and Celera projects has provided a major impetus to the field of molecular genetics and genomic medicine. This review provides a broad overview of recent developments in this field, basic information and terminology in common use, and explores the impact of genetic variations or polymorphisms on human biological diversity.
Biodiversity↗
Diversity project takes time but reaps rewards.
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Biological Specimen Banks↗
ExScript: an 'ex'-centric approach to the description of transcript diversity.
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Animals↗
Peruvian Population Genomics: Unraveling the Genetic Landscape and Admixture Dynamics of Urban Populations.
Latin American populations exhibit high genetic and phenotypic diversity shaped by complex admixture histories, yet remain underrepresented in genomic research. Here, we analyze genome-wide data from 432 urban individuals across 13 regions of Peru, including 346 newly genotyped from the Peruvian Genome Project. We revealed fine-scale population structure and demographic patterns shaped by both ancient and recent events. Indigenous American ancestries in urban individuals trace back to ancient north-south interactions consisted with archaeological records, while admixture events occurring within the last 8-10 generations involved sources already admixed between distinct ancestral lineages. Identity-by-descent analyses reveal sustained gene flow in southern Peru, while effective population size trends highlight demographic stability in Lima over the past 25 generations. Sex-biased admixture patterns suggest Indigenous ancestry contribution preferentially mediated by females. These findings offer a comprehensive view of Peru's genetic heritage, advancing our understanding of human genetic diversity and historical demographic processes in Latin America.
Admixture↗
Ethical issues and GenomEUtwin.
The post-genomic era is witnessing a proliferation of large-scale and population based genetic and genomic research projects. Many countries have or are establishing research biobanks and, as with GenomEUtwin, there is great interest in building multinational projects that link genotypic and phenotypic information from different centers. Clearly, the conduct of these projects raises multiple ethical issues, and the knowledge generated will continually recast the ethical, legal and social implications (ELSI) of such research. Maximising the scientific profit from this work while minimizing the risks to the participants requires full integration of ethics components into the structure and functioning of these projects. GenomEUtwin is organized around five intellectual cores, including an Ethics Core which operates across the entire project. This paper describes the role of the Ethics Core and presents an overview of the guidelines on which the principles followed in GenomEUtwin are based. We outline the major ethical concerns of our project and highlight complexities arising from diverse national legislations. Finally, the role of empirically based ethics research is discussed for understanding the ethical, legal, social and economic implications of human genetics and genomics research.
Confidentiality↗
[Establishment of evidence based health care for common diseases based on genetic epidemiological approach].
With the end of the Human Genome Project, we can foresee on the horizon the molecular dissection of common diseases, although we could not have imagined such a possibility even 10 years before. As byproducts of the human genome project, molecular dissection enables us to provide evidence-based health care against common diseases: therapies will become more specific and effective than before against individual health risks associated with genetic diversities. In the present paper, I will briefly sketch state-of-the-art genetic linkage analysis for common diseases and discuss inherent difficulties which hamper our approach. Emphasis should be put on some advantages of our country for genetic studies, where our local communities still preserves old genetic backgrounds. Such a unique feature will facilitate genetic dissections of not only rare hereditary diseases but also common diseases, paving the way for genetic epidemiology in the next 10 years.
Disease Susceptibility↗
Sequencing of double-stranded polymerase chain reaction products for mutation analysis.
This report describes a reproducible, straightforward approach to sequencing double-stranded DNA products from the polymerase chain reaction (PCR) for analysis of mutations. The sequencing protocol is a modification of that published by Kretz (Kretz et al., 1989) and has been successful in the hands of a number of investigators working on diverse projects. Following this procedure, PCR DNA products generated from bacterial sources (including pBR322 and F' derivatives), as well as cDNA and genomic DNA from both hamster and human cell lines, have been sequenced with equal success. Close attention to the molar ratio of nucleotides to double-stranded DNA template present during the labeling reaction ensures best results.
Animals↗
Dermatological applications of DNA array technology.
The Human Genome Project and other large scale sequencing consortia continue to generate huge amounts of DNA sequence data. Despite the identification of specific disease-related genes and genetic markers, we still appear to know little about how diverse gene products actually interact with each other or respond to other chemical or biological stimuli. Such information is of course fundamental to understanding complex disease pathways and biochemical processes and, as such, has spawned new fields of investigative genetics, that of functional genomics and proteomics. DNA array technology is emerging as a powerful, high-throughput and versatile tool that can be applied to the study of functional genomics. This article reviews the methodology involved in array analysis and provides insight into how, as an investigative tool, DNA arrays are becoming increasingly useful in understanding fundamental abnormalities in dermatological disease and also in refining the management of patients with certain skin disorders.
Gene Expression Profiling↗