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PubMed2003

Synaptogenesis and heritable aspects of executive attention.

In humans, changes in brain structure and function can be measured non-invasively during postnatal development. In animals, advanced optical imaging measures can track the formation of synapses during learning and behavior. With the recent progress in these technologies, it is appropriate to begin to assess how the physiological processes of synapse, circuit, and neural network formation relate to the process of cognitive development. Of particular interest is the development of executive function, which develops more gradually in humans. One approach that has shown promise is molecular genetics. The completion of the human genome project and the human genome diversity project make it straightforward to ask whether variation in a particular gene correlates with variation in behavior, brain structure, brain activity, or all of the above. Strategies that unify the wealth of biochemical knowledge pertaining to synapse formation with the functional measures of brain structure and activity may lead to new insights in developmental cognitive psychology.

Alleles↗
PubMed1998

Legal, ethical, and social issues in human genome research.

In the past several decades, biological sciences have been revolutionized by their increased understanding of how life works at the molecular level. In what ways, and to what extent, will this scientific revolution affect the human societies within which the science is situated? The legal, ethical, and social implications of research in human genetics have been discussed in depth, particularly in the context of the Human Genome Project and, to a lesser extent, the proposed Human Genome Diversity Project. Both projects could have significant effects on society, the former largely at the level of individuals or families and the latter primarily at the level of ethnic groups or nations. These effects can be grouped in six broad categories: identity, prediction, history, manipulation, ownership and control, and destiny.

DNA↗
PubMed1998

[Man and the diversity of his genome. An extraordinary phase in the history of population genetics].

Population genetics is almost eighty years old, but benefited only very recently from the advantages of direct DNA analysis. Nevertheless, much knowledge had already accumulated and was completely confirmed by the study of DNA markers. Major benefits of the latter came with microsatellites. It allowed to discover an error made with classical markers but even more seriously with RFLPs, because of the practically involuntary sampling of individuals almost exclusively of European origin for the detection of polymorphisms. Among other evolutionary application of microsatellites, the most attractive is their very recent use for dating population separations during the recent migration out of Africa of modern humans. They confirm the theory that this expansion was quite recent. Single nucleotide substitutions are the major material of evolution, and so far markers of this kind were rare. A new method, DHPLC, is excellent for their detection and testing. In humans it has been applied almost exclusively to the Y chromosome, and in a year it has given a completely new picture of Y chromosome genetics. Some applications of statistical methods to genetic geography of classical markers and ADN markers will show the power of the geographical approach, and therefore the need of a wide collection of population samples, as will be made possible by the HGDP (Human Genome Diversity Project).

Africa↗
PubMed1997

Issues concerning ethical conduct and genetic mapping raised at Montreal meeting.

Ethical concerns about the Human Genome Diversity Project were discussed in Montreal last year during the 1st International Conference on DNA Sampling and Banking. This article, the second in a 2-part series, looks at the potential for misuse and commercialization of DNA samples and discusses some of the ethical concerns surrounding genetic mapping.

Canada↗
PubMed2005

Research integrity and rights of indigenous peoples: appropriating Foucault's critique of knowledge/power.

In this paper I appropriate the philosophical critique of Michel Foucault as it applies to the engagement of Western science and indigenous peoples in the context of biomedical research. The science of population genetics, specifically as pursued in the Human Genome Diversity Project, is the obvious example to illustrate (a) the contraposition of modern science and 'indigenous science', (b) the tendency to depreciate and marginalize indigenous knowledge systems, and (c) the subsumption of indigenous moral preferences in the juridical armature of international human rights law. I suggest that international bioethicists may learn from Foucault's critique, specifically of the need for vigilance about the knowledge/power relation expressed by the contraposition of modern science and 'indigeneity'.

Biomedical Research↗
PubMed2005

"Bioethics in action" and human population genetics research.

Recent disputes about human population genetics research have been provoked by the field's political vulnerability (the historic imbalance of power between the geneticists and the people they study) and conceptual vulnerability (the mismatch between scientific and popular understandings of the genetic basis of collective identity). The small, isolated groups often studied by this science are now mobilizing themselves as political subjects, pressing sovereignty claims, and demanding control over the direction and interpretation of research. Negotiations between the geneticists and the people asked to donate DNA have resulted not only in explicit bioethics protocols but also in diffuse anxiety over the incommensurability between expert and non-expert views about genetic evidence for identity claims. This article compares two disputes over genetics research: the Human Genome Diversity Project and the use of genetics to prove identity claims among the Melungeons of Tennessee. The case studies illustrate "bioethics in action": how particular controversies and interests drive the production of bioethics discourses and techniques (such as informed consent protocols). They also illustrate some limits on the usual apparatus of bioethics in overcoming this science's multiple vulnerabilities.

Bioethics↗
PubMed2006

Proportioning whole-genome single-nucleotide-polymorphism diversity for the identification of geographic population structure and genetic ancestry.

The identification of geographic population structure and genetic ancestry on the basis of a minimal set of genetic markers is desirable for a wide range of applications in medical and forensic sciences. However, the absence of sharp discontinuities in the neutral genetic diversity among human populations implies that, in practice, a large number of neutral markers will be required to identify the genetic ancestry of one individual. We showed that it is possible to reduce the amount of markers required for detecting continental population structure to only 10 single-nucleotide polymorphisms (SNPs), by applying a newly developed ascertainment algorithm to Affymetrix GeneChip Mapping 10K SNP array data that we obtained from samples of globally dispersed human individuals (the Y Chromosome Consortium panel). Furthermore, this set of SNPs was able to recover the genetic ancestry of individuals from all four continents represented in the original data set when applied to an independent, much larger, worldwide population data set (Centre d'Etude du Polymorphisme Humain-Human Genome Diversity Project Cell Line Panel). Finally, we provide evidence that the unusual patterns of genetic variation we observed at the respective genomic regions surrounding the five most informative SNPs is in agreement with local positive selection being the explanation for the striking SNP allele-frequency differences we found between continental groups of human populations.

Algorithms↗
PubMed1998

Human genome diversity.

Human genome diversity studies analyse genetic variation among individuals and between populations in order to understand the origins and evolution of anatomically modern humans (Homo sapiens sapiens). The availability of thousands of DNA polymorphisms (genetic markers) brings analytic power to these studies. Human genome diversity studies have clearly shown that the large part of genetic variability is due to differences among individuals within populations rather than to differences between populations, effectively discrediting a genetic basis of the concept of 'race'. Evidence from paleontology, archaeology and genetic diversity studies is quite consistent with an African origin of modern humans more than 100,000 years ago. The evidence favors migrations out of African as the source of the original peopling of Asia, Australia, Europe and Oceania. An international program for the scientific analysis of human genome diversity and of human evolution has been developed. The Human Genome Diversity Project (HGDP) aims to collect and preserve biologic samples from hundreds of populations throughout the world, make DNA from these samples available to scientists and distribute to the scientific community the results of DNA typing with hundreds of genetic markers.

Evolution, Molecular↗
PubMed2003

Governing population genomics: law, bioethics, and biopolitics in three case studies.

Existing scholarship on population genomics has only superficially addressed issues of power and political process. Accordingly, questions of politics and governance pervade the analysis of three population genomics case studies that follow: the Human Genome Diversity Project, Iceland's Health Sector Database, and "Clinical Genomics" as defined by the Beth Israel-Ardais collaboration. An examination of these case studies reveals that the common law, U.S. regulatory law, and international law have not developed the political sophistication to make the traditional promises of biomedical ethics--respect for autonomy, justice, and beneficence--come to fruition. Further, comparisons of these projects illuminate three areas ripe for reframing--informed consent, expert ethical oversight, and commercial benefits. Four avenues of reform are suggested.

Advisory Committees↗
PubMed2006

Complete sequence data support lack of balancing selection on PRNP in a natural Chinese population.

The M129V mutation in the human prion protein gene (PRNP) is the primary site linked to susceptibility to prion diseases in humans. The heterozygous state of this allele has been proven to be more resistant to prion-related diseases such as Creutzfeldt-Jakob disease. Based on a study of the common genetic variations, it has been proposed that balancing selection has played a critical role in shaping the distribution of 129V in worldwide populations. Kreitman and Di-Rienzo [Kreitman and Di-Rienzo (2004)Trend Genet 20:300-304] challenged this hypothesis by pointing out that the exclusion of polymorphisms with low frequency may introduce an ascertainment bias and, in turn, lead to a wrong conclusion. By studying sequence variations in samples from the Human Genome Diversity Project, Soldevila et al. [Soldevila et al. (2005) Trends Genet 21:389-391] showed that this ascertainment bias does exist. We argue that the evidence presented by Soldevila et al. may be compromised by the samples tested since they were selected from a population that may be substructured. In this study, we re-evaluated the hypothesis of balancing selection in a natural Chinese population using a much longer segment encompassing the entire genomic region of the PRNP gene (15 kb). We showed that the pattern of genetic variation in PRNP is not consistent with the presence of balancing selection in this gene.

Asian People↗
PubMed1998

Groups as gatekeepers to genomic research: conceptually confusing, morally hazardous, and practically useless.

Some argue that human groups have a stake in the outcome of population-genomics research and that the decision to participate in such research should therefore be subject to group permission. It is not possible, however, to obtain prior group permission, because the actual human groups under study, human demes, are unidentifiable before research begins. Moreover, they lack moral standing. If identifiable social groups with moral standing are used as proxies for demes, group approval could be sought, but at the expense of unfairly exposing these surrogates to risks from which prior group approval is powerless to protect them. Unless population genomics can proceed without targeting socially defined groups, or can find other ways of protecting them, it may fall to individuals to protect the interests of the groups they care about, and to scientists to warn their subjects of the need to do so.

Cultural Diversity↗