Responsibility as a dual to human rights is presented as a moral alternative to extended, complex systems of animal and ecological rights. This simple idea of responsibility is then applied to four levels of agricultural technology: animal (nature) rights, conservation, organization of agriculture, and people versus planet relationships. The stewardship argument is freed from at least some of the complications of animal rights and ecology, but leaves responsibility with humans to do the right thing.

Before September 11, 2001, a mass-casualty terrorist attack on American soil was generally considered a remote possibility. Similarly, before October 4, 2001—the first confirmed case of anthrax caused by intentional release — widespread bioterrorism seemed implausible. Among the arguments that such a biological artack was unlikely included: the lack of a historical precedent; the technological and organizational challenges to acquiring and weaponizing a biological agent; and the almost universal moral opprobrium that would certainly accompany the use by terrorists of such (...) a weapon. In the wake of September 11th and October 4th, however, many are reconsidering the likelihood of a large-scale bioterrorist attack against civilians.The Centers for Disease Control and Prevention defines bioterrorism as the intentional release of viruses, bacteria, or toxins for the purpose of harming or killing civilian. One measurement of the public health system's level of bioterrorism preparedness is the quality and distribution of laws mandating the reporting of diseases caused by certain biological agents. (shrink)

Ethical debates around genetic enhancement tend to include an argument that the technology will eventually be fairly accessible once available. That we can fairly distribute genetic enhancement has become a moral defence of genetic enhancement. Two distribution solutions are argued for, the first being equal distribution. Equality of access is generally believed to be the fairest and most just method of distribution. Second, equitable distribution: providing genetic enhancements to reduce social inequalities. In this paper, I make (...) two claims. I first argue that the very assumption that genetic enhancements can be distributed fairly is problematic when considering our understanding of gene–environment interactions, for example, epigenetics. I then argue that arguments that genetic enhancements are permissible because the intended benefits can be distributed fairly as intended are misinformed. My first claim rests on the assertion that genetic enhancements do not enhance traits in a vacuum; genes are dependent on conducive environments for expression. If society cannot guarantee fair environments, then any benefit conferred from being genetically enhanced will be undermined. Thus, any argument that the distribution of genetic enhancements will be fair and that the technology is therefore morally permissible, is mistaken. (shrink)

In the first half of the 1970s, two books appeared which have subsequently been regarded as major works in political philosophy: John Rawls's A Theory of Justice, and Robert Nozick's Anarchy, State, and Utopia. Economists have devoted a considerable amount of ink to commentary, pro and con, on A Theory of Justice; and it is getting to be a rare public finance textbook that does not, in its discussion of governmental redistribution, describe the Kantian contract made behind the veil of (...) ignorance. On the other hand, while Nozick has not exactly been ignored, economists have not joined the debate over Anarchy, State, and Utopia with the same gusto. When economists have joined the debate, their concern has been, more often than not, with Nozick's entitlement theory of distributive justice, as is the case with Varian and Sen. What is largely missing, then, is any economic analysis of the processes that give rise to Nozick's morally legitimate state, which he calls the minimal state, and the characteristics and likely activities of the minimal state within the moral boundaries set by Nozick, his assertions to the contrary notwithstanding. (shrink)

The current investigation was designed to examine the association of parenting during late childhood and early adolescence, a time of rapid physical development, with biological propensity for inflammation. Based on life course theory, it was hypothesized that parenting during this period of rapid growth and development would be associated with biological outcomes and self-reported health assessed in young adulthood. It was expected that association of parenting with health would be mediated either by effects on methylation of a key inflammatory factor, (...) Tumor necrosis factor (TNF), or else by association with a pro-inflammatory shift in the distribution of mononuclear blood cells. Supporting expectations, in a sample of 398 African American youth residing in rural Georgia, followed from age 11 to age 19, parenting at ages 11–13 was associated with youth reports of better health at age 19. We found that parenting was associated with changes in TNF methylation as well as with changes in cell-type composition. However, whereas methylation of TNF was a significant mediator of the association of parenting with young adult health, variation in mononuclear white blood cell types was not a significant mediator of the association of parenting with young adult health. The current research suggests the potential value of examining the health-related effects of parenting in late childhood and early adolescence. Further examination of protection against pro-inflammatory tendencies conferred by parenting appears warranted. (shrink)

There is an important distinction between a person's ’initial genetic endowment’ and his ’post‐conception inputs’ such as nutrition and education. From a left‐libertarian perspective that views persons as self‐owning, children have an enforceable claim that parents should provide adequate ’post‐conception’ inputs. Moreover, with the revolution in genetic science, it is now possible to effect genetic changes without altering identity. If so, children can, in principle, claim a right against ’genetic‐disablement’.

Despite its importance, the linkage between genetic and cultural evolution has until now been little explored. An understanding of this linkage is needed to extend evolutionary theory so that it can deal for the first time with the phenomena of mind and human social history. We characterize the process of gene-culture coevolution, in which culture is shaped by biological imperatives while biological traits are simultaneously altered by genetic evolution in response to cultural history. A case is made from both (...) theory and evidence that genetic and cultural evolution are inseverable, and that the human mind has tended to evolve so as to bias individuals toward certain patterns of cognition and choice rather than others. With the aid of mathematical models we trace the coevolutionary circuit: The genes prescribe structure in developmental pathways that lay down endocrine and neural systems, imposing regularities in the development of cognition and behavior; these regularities translate upward into holistic patterns of culture, which can be predicted in the form of probability density distributions ; natural selection acts within human history to favor certain epigenetic rules over others; and the selection alters the frequencies of the underlying genes. The effects of genetic and cultural changes reverberate throughout the circuit and are consequently tested with the passage of each life cycle. In addition to modeling gene-culture coevolution, we apply methods from island biogeography and information theory to examine the cultural capacity of the genes, the factors determining the magnitude of cultural diversity, and the possible reasons for the uniqueness of the human achievement. (shrink)

In this article I critically examine Adam Moore’s claim that the threshold for overriding intangible property rights and privacy rights is higher, in relation to genetic enhancement techniques and sensitive personal information, than is commonly suggested. I argue that Moore fails to see how important advances in genetic research are to social justice. Once this point is emphasised one sees that the issue of how formidable overriding these rights are is open to much debate. There are strong reasons, on grounds (...) of social justice, for thinking the importance of such rights is likely to be diminished in the interests of ensuring a more just distribution of genes essential to pursuing what John Rawls calls a person’s ”rational plan of life’. (shrink)

Species’ adaptation to their environments occurs via a range of mechanisms of adaptation. These include genetic adaptations as well as non-traditional inheritance mechanisms such as learned behaviors, niche construction, epigenetics, horizontal gene transfer, and alteration of the composition of a host’s associated microbiome. We propose to supplement these with another modality of eco-evolutionary dynamics: cases in which adaptation to the environment occurs via what may be called a “distributed adaptation,” in which the adaptation is not conferred via something carried (...) by an individual of the adapted species (as with genes, behavior, or associated microbes), but by some structural or compositional aspect of the population. Put differently, the adaptively relevant information cannot be reduced to information possessed by a single individual, whether genetic or otherwise. Rather, the adaptively relevant information is distributed, and is found strictly at the population level. While human culture is presumably such a case, as may be cases found in social insects, we want to suggest that there are other cases that belong to this category and to explore its evolutionary implications. In particular, we discuss the factors that affect whether adaptive information is stored in a distributed way, to what degree, and what kinds of adaptive information are most likely to be found in this modality of adaptation. (shrink)

Brussen, Kerri Anne A patent provides the exclusive legal right to a person or company to regulate the distribution, manufacture or use of their invention. This paper examines some of the issues surrounding Gene Patents. Although there is a drive to abolish Gene Patents, we argue that refined and clearly defined regulation would continue to support medical research, avoid exploitation, and be of benefit to public health.

The paper argues against the central dogma and its interpretation by C. Kenneth Waters and Alex Rosenberg. I argue that certain phenomena in the regulation of gene expression provide a break with the central dogma, according to which sequence specificity for a gene product must be template derived. My thesis of 'molecular epigenesis' with its three classes of phenomena, sequence 'activation', 'selection', and 'creation', is exemplified by processes such as transcriptional activation, alternative cis- and trans-splicing, and RNA editing. (...) It argues that other molecular resources share the causal role of genes; the sequence specificity for the linear sequence of any gene product is distributed between the coding sequence, cis-acting sequences, trans-acting factors, environmental signals, and the contingent history of the cell (thesis of distributed causal specificity). I conclude that the central dogma has unnecessarily restricted genetic research to the sequencing of protein-coding genes, unilinear pathway analyses, and the focus on exclusive specificity. (shrink)

Despite its importance, the linkage between genetic and cultural evolution has until now been little explored. An understanding of this linkage is needed to extend evolutionary theory so that it can deal for the first time with the phenomena of mind and human social history. We characterize the process of gene-culture coevolution, in which culture is shaped by biological imperatives while biological traits are simultaneously altered by genetic evolution in response to cultural history. A case is made from both (...) theory and evidence that genetic and cultural evolution are inseverable, and that the human mind has tended to evolve so as to bias individuals toward certain patterns of cognition and choice rather than others. With the aid of mathematical models we trace the coevolutionary circuit: The genes prescribe structure in developmental pathways that lay down endocrine and neural systems, imposing regularities in the development of cognition and behavior; these regularities translate upward into holistic patterns of culture, which can be predicted in the form of probability density distributions ; natural selection acts within human history to favor certain epigenetic rules over others; and the selection alters the frequencies of the underlying genes. The effects of genetic and cultural changes reverberate throughout the circuit and are consequently tested with the passage of each life cycle. In addition to modeling gene-culture coevolution, we apply methods from island biogeography and information theory to examine the cultural capacity of the genes, the factors determining the magnitude of cultural diversity, and the possible reasons for the uniqueness of the human achievement. (shrink)

One of the surprises from genome sequencing projects is the apparently small number of predicted genes in different eukaryotic cells, particularly human. One possible reason for this ‘shortage’ of genes is multiple distribution of proteins; a single protein is targeted to more than one subcellular compartment and consequently participates in different biochemical pathways and might have completely different functions. Indeed, in recent years, there have been reports on proteins that were found to be localized in cellular compartments other than (...) those initially attributed to them. Furthermore, the phenomenon of highly uneven isoprotein distribution was recently observed and termed ‘eclipsed distribution’. In these cases, the amount of one of the isoproteins, in one of the locations, is significantly minute and its detection by standard biochemical and visualization methods is masked by the presence of the dominant isoprotein. In fact, the minute amounts of eclipsed proteins can be essential. Since detecting eclipsed distribution is difficult, we assume that this phenomenon is probably more common than currently recorded. Hence, developing methods for localization and functional detection of eclipsed proteins is a challenge in cell biology research. Finally, eclipsed distribution may lead to cellular pathologies as has been suggested to occur in human disorders such as Prion diseases and Alzheimer. This review provides a short description of the eclipsed distribution phenomenon followed by an overview of protein distribution mechanisms, examples of eclipsed distribution and experimental approaches for revealing these elusive proteins. BioEssays 29:772–782, 2007. © 2007 Wiley Periodicals, Inc.. (shrink)

In this paper, rather than focusing on genes as an organising concept around which historical considerations of theory and practice in genetics are elucidated, we place genetic markers at the heart of our analysis. This reflects their central role in the subject of our account, livestock genetics concerning the domesticated pig, Sus scrofa. We define a genetic marker as a element existing in different forms in the genome, that can be identified and mapped using a variety of quantitative, classical and (...) molecular genetic techniques. The conjugation of pig genome researchers around the common object of the marker from the early-1990s allowed the distinctive theories and approaches of quantitative and molecular genetics concerning the size and distribution of gene effects to align in projects to populate genome maps. Critical to this was the nature of markers as ontologically inert, internally heterogeneous and relational. Though genes as an organising and categorising principle remained important, the particular concatenation of limitations, opportunities, and intended research goals of the pig genetics community, meant that a progressively stronger focus on the identification and mapping of markers rather than genes per se became a hallmark of the community. We therefore detail a different way of doing genetics to more gene-centred accounts. By doing so, we reveal the presence of practices, concepts and communities that would otherwise be hidden. (shrink)

Homeotic genes are subject to transcriptional silencing, which prevents their expression in inappropriate body regions. Here, we shall focus on Drosophila, as little is known about this process in other organisms. Evidence is accumulating that silencing of Drosophila homeotic genes is conferred by two types of cis‐regulatory sequences: initiation (SIL‐I) and maintenance (SIL‐M) elements. The former contain target sites for transient repressors with a highly localised distribution in the early embryo and the latter for constitutive repressors that are likely (...) to be present in all cells. We discuss how SIL‐I elements may cooperate with SIL‐M elements to promote formation of a silencing complex. We propose that this complex consists of specific non‐histone proteins, the so‐called Polycomb group proteins, and that it is anchored at SIL‐M elements and at the promoter. (shrink)

Recent experimental data from proteomics and genomics are interpreted here in ways that challenge the predominant viewpoint in biology according to which the four evolutionary processes, including mutation, recombination, natural selection and genetic drift, are sufficient to explain the origination of species. The predominant viewpoint appears incompatible with the finding that the sequenced genome of each species contains hundreds, or even thousands, of unique genes - the genes that are not shared with any other species. These unique genes and proteins, (...) singletons, define the very character of every species. Moreover, the distribution of protein families from the sequenced genomes indicates that the complexity of genomes grows in a manner different from that of self-organizing networks: the dominance of singletons leads to the conclusion that in living organisms a most unlikely phenomenon can be the most common one. In order to provide proper rationale for these conclusions related to the singletons, the paper first treats the frequency of functional proteins among random sequences, followed by a discussion on the protein structure space, and it ends by questioning the idea that protein domains represent conserved units of evolution. (shrink)

In a little noted passage in A Theory of Justice, John Rawls argued that genetic intervention in the traits of offspring may be morally required as a matter of distributive justice. Given that the “greater natural assets” of each “enables him to pursue a preferred plan of life[,]” Rawls wrote, the parties to the original position “want to insure for their descendents the best genetic endowment.…Thus over time a society is to take steps at least to preserve the general level (...) of natural abilities and to prevent the diffusion of serious defects.…The pursuit of reasonable policies in this regard is something that earlier generations owe to later ones.” Whether biological enhancement actually is a moral obligation we owe to future generations is a question that I have taken up elsewhere, but which lies beyond my scope here. If we agree with Rawls that some measure of safe and effective genetic intervention may be required as a matter of justice, it stands to ask how the distribution of genetic goods – that is, the hereditary basis of human traits – should be carried out. (shrink)

Source preference in which equally distributed risks may be valued differently has been receiving increasing attention. Using subjects recruited in Berkeley, Fox and Tversky demonstrate a familiarity bias in source preference—betting on a less than even-chance event based on San Francisco temperature is valued more than betting on a better than even-chance event based on Istanbul temperature. Neophobia is associated with the amygdala which is GABA-rich and is known to be modulated by benzodiazepines as anxiolytic agents that enhance the activity (...) of the GABAA receptor in processing anxiety and fear. This leads to our hypothesis that familiarity bias in decision making may be explained by polymorphic variations in this receptor mediated by anxiety regulation in the amygdala. In two companion studies involving Beijing-based subjects, we examine 10 single nucleotide polymorphisms of GABRB2 and find 7 SNPs each showing negative association between familiarity bias—preference for betting on parity of Beijing temperature over Tokyo temperature—and having at least one minor allele. In an imaging genetics study of a subsample of subjects based on the SNP with the most balanced allelic distribution, we find that subjects’ familiarity bias in terms of risk aversion towards bets on the parity of the temperature of 20 Chinese cities is negatively associated with their post-scanning familiarity ratings of the cities only for those with no minor allele in this SNP. Moreover, familiarity bias is positively associated with activation in the right amygdala along with the brain’s attention networks. Overall, our findings help discriminate between ambiguity aversion and familiarity bias in source preference and supports our gene–brain–behavior hypothesis of GABAergic modulation of amygdala activation in response to familiarity towards the source of uncertainty. (shrink)

The term functional domain is often used to describe the region containing the cis acting sequences that regulate a gene locus. “Strong” domain models propose that the domain is a spatially isolated entity consisting of a region of extended accessible chromatin bordered by insulators that have evolved to act as functional boundaries. However, the observation that independently regulated loci can overlap partially or completely raises questions about functional requirements for physically isolated domain structures. An alternative model, the “weak” domain (...) model, proposes that domain structure is determined by the distribution of binding sites for positively acting factors, without a requirement for functional boundaries. The domain would effectively be the region that contains these factor-binding sites. Specificity of promoter-enhancer interactions would play a major role in maintaining the functional autonomy of adjacent genes. Sequences that interfere with these interactions (frequently characterised as insulators) would be selected against if they occurred within the domain but not at the edges, or in the interdomain regions. As a result, insulators would often be found near the borders of domains without necessarily being selected to act as boundaries. BioEssays 22:657–665, 2000. © 2000 John Wiley & Sons, Inc. (shrink)

Participatory deliberation, whereby diverse experts and publics collectively engage in decision‐making, can ensure a more informed and just decision by centering historically marginalized perspectives and engaging a spectrum of value systems. Broad and diverse participation is crucial for the equitable distribution of risks and benefits resulting from complex and uncertain decisions such as environmental gene editing. From an ethical position that gives intrinsic value to the nonhuman and recognizes the interconnectedness of species across generations, we argue that deliberation (...) over environmental gene editing must include the voice of nature and the voice of future generations. Inclusion of these key participant groups can encourage reflection on the human relationship with nature and help safeguard intergenerational equity of decisions reached. By drawing from the legal rights of nature movement, the Boardman River Dams Project, and methods for representative participation, we offer strategies for inclusion of nonhuman nature and future generations in deliberative processes about environmental gene editing and other crucial decisions about our shared environments. (shrink)

The global food system exhibits dizzying complexity, with interaction among social, economic, biological, and technological factors. Opposition to the first generation of plants and animals transformed through rDNA-enabled gene transfer has been a signature episode in resistance to the forces of industrialization and globalization in the food system. Yet agricultural scientists continue to tout gene technology as an essential component in meeting future global food needs. An ethical analysis of the debate over gene technologies reveals the details (...) that matter. On the one hand, alternative regimes for institutionalizing gene technology could mitigate injustices suffered by politically marginalized and economically disadvantaged actors in the food system, especially smallholding farmers in less industrialized economies. On the other hand, GMO opposition has been singularly effective in mobilizing citizens of affluent countries against policies and practices that lie at the heart of these same injustices. As part of the roundtable, “Ethics and the Future of the Global Food System,” this essay argues that charting a middle course that realizes the benefits of gene technology while blocking its use in the perpetration of unjust harms may require a more detailed grasp of intricacies in the food system than even motivated bystanders are willing to develop. (shrink)

How to interpret the “molecular gene” concept is discussed in this paper. I argue that the architecture of biological systems is hierarchical and multi-layered, exhibiting striking similarities to that of modern computers. Multiple layers exist between the genotype and system level property, the phenotype. This architectural complexity gives rise to the intrinsic complexity of the genotype-phenotype relationships. The notion of a gene being for a phenotypic trait or traits lacks adequate consideration of this complexity and has limitations in (...) explaining the genotype-phenotype relationships. I explore ways toward an integrative interpretation of the gene in the context of multi-layered biological systems. A gene, I argue, should be interpreted as a functional unit that is responsible for the trans-generation passage of the capacity to dynamically produce a biochemical activity or biochemical activities. At the molecular level, a gene is a genetic unit, a stretch of DNA sequence, which dictates the behavior and the dynamic production of the encoded cellular component(s). Embedded in a gene’s quadruple DNA code are the regulatory signals, such as those for RNA splicing and/or editing, as well as for transcription factor binding. A regulatory signal can be recognized by the gene expression machinery in one state, but not in another. The confusion caused by RNA splicing, editing, and a gene’s selective tissue distribution pattern is addressed. Instead of a context-dependent definition of the gene, I argue for the view that it is the same gene displaying multiple meanings, subject to differential interpretation by the cellular machinery in different states. In other words, the same gene gives rise to different products and expression levels under different conditions. (shrink)

Because a large number of molecular mechanisms involved in gene regulation have been described during the last decades, it is now becoming possible to address questions about the global structure of gene regulatory networks, at least in the case of some of the best-characterized organisms.This paper presents a global characterization of the transcriptional regulation in Escherichiacoli on the basis of the current data. The connectivity of the corresponding network was evaluated by analyzing the distribution of the number (...) of genes regulated by a given regulatory protein, and the distribution of the number of regulatory genes regulating a given regulated gene. The mean connectivity found (between 2 and 3) shows a rather loosely interconnected structure. Special emphasis is given to circular sequences of interactions (“circuits”) because of their critical dynamical properties. Only one-element circuits were found, in which negative autoregulation is the dominant architecture. These global properties are discussed in light of several pertinent theoretical approaches, as well as in terms of physiological and evolutionary considerations. BioEssays 20:433–440, 1998. © 1998 John Wiley & Sons Inc. (shrink)

Genes are functional cell segments of DNA within an organism, as well as basic physical units of biological inheritance, which have consequences for human dignity and public interest. Genes and genetic material (DNA strands of nucleotides, genetically altered plants and animals e.g., see Appendix B) are patentable. In the US and around the globe, governments grant genetic patents for new, non-obvious, and useful gene inventions. A wide range of interest groups such as religious leaders, scientists, biotech pharmaceuticals, medical practitioners, (...) health care providers, venture capitalists, medical patients and persons have interests in defining what is subject to patents. Yet, it is at least questionable that genetic inventions, and the ownership of discoveries of gene mutations leading to possible diseases, should be subject to influence by interest groups. Although some genes (cDNA) are currently legally patentable, the question in this examination is whether gene patents should be legally and morally justified. In this work I examine whether gene patents should legally and morally be justified, given the principles of biomedical ethics such as human Beneficence /Autonomy and Justice. I argue that gene patenting is not justifiable, and I consider what can be done to create a system that delivers access to genetic information in the current genetic Intellectual Patent system. This interdisciplinary work is more complex than whether bio-science researchers and corporate entities should hold gene patents, or differentiating the legal question of whether genes are an invention or a discovery in the human genome. Mere responses to these questions would not ultimately solve the genetic justice problem. The justification for genetic appropriation is more complexity, since it is grounded in axiological claims about human dignity and public interest set in an ever changing biomedical/biogenetic technology. To address this complexity, I will draw upon the ideas of “the capability approach” to genetic justice found in the work of Nussbaum and Sen. This work is an interdisciplinary examination of the proper appropriation of natural genetic material and its impact on human dignity. It is argued that genetic material and information should be accessible to all, via heath care, for example. We must look to new ways to achieve genetic justice that promote human flourishing as a public good. (shrink)

The regulatory properties of the neurospecific, type I adenylyl cyclase and its distribution within brain have suggested that this enzyme may be important for neuroplasticity. To address this issue, the murine, Ca2+ -stimulated adenylyl cyclase (type I), was inactivated by targeted mutagenesis. Ca2+ -stimulated adenylyl cyclase activity was reduced 40% to 60% in the hippocampus, neocortex, and cerebellum. Long term potentiation in the CA1 region of the hippocampus from mutants was perturbed relative to controls. Both the initial slope and (...) maxim um extent of changes in synaptic response were reduced. Although mutant mice learned to find a hidden platform normally in the Morris water task, they did not display a preference for the region where the platform had been when it was removed. The behavioral phenotype of these mice is very similar to that exhibited by mice which have been surgically lesioned in the hippocampus. These results indicate that disruption of the gene for the type I adenylyl cyclase produces changes in spatial memory and indicate that the cAMP signal transduction pathway may play an important role for synaptic plasticity. (shrink)

It has long been observed that human protein‐coding genes have a particular distribution of GC‐content: the 5′ end of these genes has high GC‐content while the 3′ end has low GC‐content. In 2012, it was proposed that this pattern of GC‐content could act as an mRNA identity feature that would lead to it being better recognized by the cellular machinery to promote its nuclear export. In contrast, junk RNA, which largely lacks this feature, would be retained in the nucleus (...) and targeted for decay. Now two recent papers have provided evidence that GC‐content does promote the nuclear export of many mRNAs in human cells. (shrink)

This paper, in the form of a frequently asked questions page (FAQ), addresses outstanding questions about “shadow enhancers”, quasi‐redundant cis‐regulatory elements, and their proposed roles in transcriptional control. Questions include: What exactly are shadow enhancers? How many genes have shadow/redundant/distributed enhancers? How redundant are these elements? What is the function of distributed enhancers? How modular are enhancers? Is it useful to study a single enhancer in isolation? In addition, a revised definition of “shadow enhancers” is proposed, and possible mechanisms of (...) shadow enhancer function and evolution are discussed. (shrink)

Congenital deafness is one of the most common birth defects reported. Approximately 70% of congenital deafness is non-syndromic, and approximately 80% of non-syndromic hearing loss results from a genetic cause. Middleton et al.’s1998 study highlighted the negative attitudes of culturally Deaf individuals towards genetic testing for genes known to cause hearing loss. While studies concerning genetic testing for deafness genes reference Middleton’s study, to our knowledge a re-evaluation of the attitudes of Deaf individuals towards genetic testing has not been conducted (...) recently. The purpose of this study is to re-establish attitudes of Deaf individuals towards genetic testing of genes known to cause hearing loss. A computer-based questionnaire was distributed to members of the Deaf community. Responses of participants were recorded and analyzed. The primary investigator then attended Deaf community events and the 2015 Alabama Association of the Deaf Conference, and recruited individuals interested in participating in the study. The surveys were distributed to these individuals and their anonymous responses were analyzed. Our results show there are more positive attitudes within the Deaf community towards genetic counseling, genetic testing, and prenatal testing of genes known to cause hearing loss than were previously documented, although negative attitudes are still present. Additionally, our study shows there is a desire among members of the Deaf community to learn more about and potentially receive these services, despite the fact they are rarely offered by healthcare providers. (shrink)

International uproar followed the recent announcement of the birth of twin girls whose genomes had been edited with a breakthrough DNA editing-technology. This technology, called clustered regularly interspaced short palindrome repeats or CRISPR-Cas9, can alter any DNA, including DNA in embryos, meaning that changes can be passed to the offspring of the person that embryo becomes. Should we use gene editing technologies to change ourselves, our children, and future generations to come? The potential uses of CRISPR-Cas9 and other (...) class='Hi'>gene editing technologies are unprecedented in human history. By using these technologies, we eradicate certain dreadful diseases. Altering human DNA, however, raises enormously difficult questions. Some of these questions are about safety: Can these technologies be deployed without posing an unreasonable risk of physical harm to current and future generations? Can all physical risks be adequately assessed, and responsibly managed? But gene editing technologies also raise other moral questions, which touch on deeply held, personal, cultural, and societal values: Might such technologies redefine what it means to be healthy, or normal, or cherished? Might they undermine relationships between parents and children, or exacerbate the gap between the haves and have-nots? The broadest form of this second kind of question is the focus of this book: What might gene editing--and related technologies--mean for human flourishing? In the new essays collected here, an interdisciplinary group of scholars asks age--old questions about the nature and well-being of humans in the context of a revolutionary new biotechnology--one that has the potential to change the genetic make-up of both existing people and future generations. Welcoming readers who study related issues and those not yet familiar with the formal study of bioethics, the authors of these essays open up a conversation about the ethics of gene editing. It is through this conversation that citizens can influence laws and the distribution of funding for science and medicine, that professional leaders can shape understanding and use of gene editing and related technologies by scientists, patients, and practitioners, and that individuals can make decisions about their own lives and the lives of their families. (shrink)

We identify two processes by which humans increase genetic exchange among groups of individuals: by affecting the distribution of groups and dispersal patterns across a landscape, and by affecting interbreeding among sympatric or parapatric groups. Each of these processes might then have two different effects on biodiversity: changes in the number of taxa through merging or splitting of groups, and the extinction/extirpation of taxa through effects on fitness. We review the various ways in which humans are affecting genetic exchange, (...) and highlight the difficulties in predicting the impacts on biodiversity. Gene flow and hybridization are crucially important evolutionary forces influencing biodiversity. Humans alter natural patterns of genetic exchange in myriad ways, and these anthropogenic effects are likely to influence the genetic integrity of populations and species. We argue that taking a gene-centric view towards conservation will help resolve issues pertaining to conservation and management.Editor's suggested further reading in BioEssays A systemic view of biodiversity and its conservation: Processes, interrelationships, and human culture Abstract. (shrink)

The successful decoding of human genome and subsequent advances in new life sciences innovation create technological presuppositions of a new possibility of justice i.e. the just distribution of both social and natural goods. Although Rawlsians attempt to expand their theory to include this new possibility, they fail to provide plausible metrics of social justice in the genomics and post-genomics era. By contrast, Senians seem to succeed to do so through their index of basic capabilities. This paper explores what might (...) be regarded as a Senian perspective of distributive justice in new life sciences innovation. The argument is that, by comparing freedoms instead of primary goods, the capability theory allows not only for the identification of injustices linked to natural lottery but also for their elimination through the use of new genomic technologies, including gene-based diagnostics, gene therapy, somatic cell engineering and germ-line engineering. These innovative technologies seem to have the potential to reduce variability in natural goods and therefore enable individuals to convert social goods into well-being or welfare. (shrink)

In a recent article, Marilyn Baffoe-Bonnie offers three arguments for conducting CRISPR/Cas9 biotechnology research to cure sickle-cell disease (SCD) based on addressing historical and current injustices in SCD research and care. I show that her second and third arguments suffer from roughly the same defect, which is that they really argue for something else rather than for conducting CRISPR/Cas9 research in particular. For instance, the second argument argues that conducting this gene therapy research would improve the relationship between SCD (...) sufferers (who are mostly of African descent) and health care providers. But really what is essential in improving this relationship is for those providers to genuinely care and be concerned, and this could be lacking even with the CRISPR research being done. Indeed, this relationship could be improved even without that research being done, as long as there is genuine concern. Thus, this argument actually argues for the need for genuine concern. As for the third argument, one (of two) problems arises because it claims that CRISPR research for SCD should be pursued because the benefits would be shared by even non-research-participants, as non-participants would be encouraged. However, this argues for any research for SCD, not for CRISPR research in particular. I conclude that a better justice-based argument will use only Baffoe-Bonnie’s first argument, which is based on historic neglect of an actual cure for SCD (going beyond merely management or transplant therapies). (shrink)

Alzheimer's disease is characterized by amyloid-beta peptide -loaded plaques in the brain. Abeta is a cleavage fragment of amyloid-beta protein precursor and over production of APP may lead to amyloidogenesis. The regulatory region of the APP gene contains consensus sites recognized by the transcription factor, specificity protein 1 , which has been shown to be required for the regulation of APP and Abeta. To understand the role of SP1 in APP biogenesis, herein we have characterized the relative distribution (...) and localization of SP1, APP, and Abeta in various brain regions of rodent and primate models using immunohistochemistry. We observed that overall distribution and cellular localization of SP1, APP, and Abeta are similar and neuronal in origin. Their distribution is abundant in various layers of neocortex, but restricted to the Purkinje cell layer of the cerebellum, and the pyramidal cell layer of hippocampus. These findings suggest that overproduction of Abeta in vivo may be associated with transcriptional pathways involving SP1 and the APP gene. (shrink)

A cell contains many copies of mitochondrial DNA. The distribution of a mitochondrial gene mutation in a cell culture is governed by the way in which the mtDNA molecules of a cell are replicated and partitioned between the two daughter cells during mitosis. Assuming that this partition process is random, we describe the evolution of the mitochondrial genetic state of a cell culture. The mutated mtDNA is ultimately segregated and the rate of the trend to segregation is relatively (...) slow. It is nevertheless greatly accelerated if the model takes into account the spatial mtDNA partition by the mitochondrial compartments. (shrink)

The vast majority (> 95%) of single-gene mutations in yeast affect not only the expression of the mutant gene, but also the expression of many other genes. These data suggest the presence of a previously uncharacterized ‘gene expression network’—a set of interactions between genes which dictate gene expression in the native cell environment. Here, we quantitatively analyze the gene expression network revealed by microarray expression data from 273 different yeast gene deletion mutants.(1) We find (...) that gene expression interactions form a robust, error-tolerant ‘scale-free’ network, similar to metabolic pathways(2) and artificial networks such as power grids and the internet.(3-5) Because the connectivity between genes in the gene expression network is unevenly distributed, a scale-free organization helps make organisms resistant to the deleterious effects of mutation, and is thus highly adaptive. The existence of a gene expression network poses practical considerations for the study of gene function, since most mutant phenotypes are the result of changes in the expression of many genes. Using principles of scale-free network topology, we propose that fragmenting the gene expression network via ‘genome-engineering’ may be a viable and practical approach to isolating gene function. BioEssays 24:267–274, 2002. © 2002 Wiley Periodicals, Inc.; DOI 10.1002/bies.10054. (shrink)

A similarity index allowing comparisons of human populations has been defined as the common “Percentage of Isoactive Genes” or PIG, which can be calculated from any gene frequency distribution characterizing two populations. The complement to one of this value has been proved to be a distance, a measure which can be used in most techniques of cluster analysis as well as in usual representations of multivariated data (dendrograms, etc...). Furthermore, the formula can be generalized to a set of (...) populations. From a biological point of vue, PIG values are particularly meaningful, whereas other previously defined indices which tend to measure similarity or difference between populations neither have such an advantage, nor can they be expressed by a single and clear number like a percentage. Moreover,comparisons using PIG indices depend at first on the fluctuations of the most frequent genes of a distribution; on the other hand, different measures principally reflect the variations of low frequency genes, which unfortunately are nearly always poorly estimated, due to weak samples of populations.Interestingly, PIG values can be applied to any frequency distribution of any kind of objects. They can also extend to a whole set of distributions by using a mean value. When applying these measures to a series of polymorphic genetical systems such as ABO, Rhesus, MNSs, Gm and HLA, one can account for the variability or the homogeneity particular to the different human groups, with simple and objective criteria. (shrink)

Large protein assemblies are usually the effectors of major cellular processes. The intricate cell homeostasis network is divided into numerous interconnected pathways, each controlled by a set of protein machines. One of these master regulators is the CCR4‐NOT complex, which ultimately controls protein expression levels. This multisubunit complex assembles around a scaffold platform, which enables a wide variety of well‐studied functions from mRNA synthesis to transcript decay, as well as other tasks still being identified. Solving the structure of the entire (...) CCR4‐NOT complex will help to define the distribution of its functions. The recently published three‐dimensional reconstruction of the complex, in combination with the known crystal structures of some of the components, has begun to address this. Methodological improvements in structural biology, especially in cryoelectron microscopy, encourage further structural and protein‐protein interaction studies, which will advance our comprehension of the gene expression machinery. (shrink)

With the human genome mapped, and with the mapping of more than one hundred animal genomes in progress, the amount of genetic data available is increasing exponentially. This exponential increase in data is having an immediate impact on the process of drug development. By using techniques of information technology to manipulate data regarding the genes, proteins, and biochemical pathways associated with various diseases, scientists are beginning to be able to design drugs in a systematic fashion. In the context of any (...) given disease, scientists look to see whether a gene, a protein for which the gene codes, or another protein in the relevant biochemical pathway could be the “target” biological molecule, the “knocking out” of which would halt or slow the disease's progression. Once a target molecule has been identified and characterized structurally, drug therapies that would be likely to knock out this target can be identified and tested systematically. The merger of information technology and genetic technology has changed the process of pharmaceutical development so much that a new term—bioinformatics—has been coined to describe this new approach to such development. (shrink)

Analysis of sites of newly integrated DNA in cellular genomes is important to several fields, but methods for analyzing and visualizing these datasets are still under development. Here, we describe tools for data analysis and visualization that take as input integration site data from our INSPIIRED pipeline. Paired-end sequencing allows inference of the numbers of transduced cells as well as the distributions of integration sites in target genomes. We present interactive heatmaps that allow comparison of distributions of integration sites to (...) genomic features and that support numerous user-defined statistical tests. To summarize integration site data from human gene therapy samples, we developed a reproducible report format that catalogs sample population structure, longitudinal dynamics, and integration frequency near cancer-associated genes. We also introduce a novel summary statistic, the UC50, which provides a single number summarizing possible clonal expansion. Using these tools, we characterize ongoing longitudinal characterization of a patient from the first trial to treat severe combined immunodeficiency-X1, showing successful reconstitution for 15 years accompanied by persistence of a cell clone with an integration site near the cancer-associated gene CCND2. Software is available at https://github.com/BushmanLab/INSPIIRED. (shrink)

The complex hexaploid wheat genome offers many challenges for genomics research. Expressed sequence tags facilitate the analysis of gene-coding regions and provide a rich source of molecular markers for mapping and comparison with model organisms. The objectives of this study were to construct a high-density EST chromosome bin map of wheat homoeologous group 2 chromosomes to determine the distribution of ESTs, construct a consensus map of group 2 ESTs, investigate synteny, examine patterns of duplication, and assess the colinearity (...) with rice of ESTs assigned to the group 2 consensus bin map. A total of 2600 loci generated from 1110 ESTs were mapped to group 2 chromosomes by Southern hybridization onto wheat aneuploid chromosome and deletion stocks. A consensus map was constructed of 552 ESTs mapping to more than one group 2 chromosome. Regions of high gene density in distal bins and low gene density in proximal bins were found. Two interstitial gene-rich islands flanked by relatively gene-poor regions on both the short and long arms and having good synteny with rice were discovered. The map locations of two ESTs indicated the possible presence of a small pericentric inversion on chromosome 2B. Wheat chromosome group 2 was shown to share syntenous blocks with rice chromosomes 4 and 7. (shrink)

Since the emergence of our species at least, natural selection based on genetic variation has been replaced by culture as the major driving force in human evolution. It has made us what we are today, by ratcheting up cultural innovations, promoting new cognitive skills, rewiring brain networks, and even shifting gene distributions. Adopting an evolutionary perspective can therefore be highly informative for cognitive science in several ways: It encourages us to ask grand questions about the origins and ramifications of (...) our cognitive abilities; it equips us with the means to investigate, explain, and understand key dimensions of cognition; and it allows us to recognize the continued and ubiquitous workings of culture and evolution in everyday instances of cognitive behavior. Taking advantage of this reorientation presupposes a shift in focus, though, from human cognition as a general, homogenous phenomenon to the appreciation of cultural diversity in cognition as an invaluable source of data. (shrink)

Numerous scenarios explain the origin of the eukaryote cell by fusion or endosymbiosis between an archaeon and a bacterium (and sometimes a third partner). We evaluate these hypotheses using the following three criteria. Can the data be explained by the null hypothesis that new features arise sequentially along a stem lineage? Second, hypotheses involving an archaeon and a bacterium should undergo standard phylogenetic tests of gene distribution. Third, accounting for past events by processes observed in modern cells is (...) preferable to postulating unknown processes that have never been observed. For example, there are many eukaryote examples of bacteria as endosymbionts or endoparasites, but none known in archaea. Strictly post‐hoc hypotheses that ignore this third criterion should be avoided. Applying these three criteria significantly narrows the number of plausible hypotheses. Given current knowledge, our conclusion is that the eukaryote lineage must have diverged from an ancestor of archaea well prior to the origin of the mitochondrion. Significantly, the absence of ancestrally amitochondriate eukaryotes (archezoa) among extant eukaryotes is neither evidence for an archaeal host for the ancestor of mitochondria, nor evidence against a eukaryotic host. BioEssays 29: 74–84, 2007. © 2006 Wiley Periodicals, Inc. (shrink)

생명공학 시대에 과학자들은 인간을 생물학적으로 이해하려고 한다. 물론 인간은 생물학적 영향에서 자유롭지 못한 존재이다. 인간이 생물학적으로나 유전학적으로 해명되는 존재이긴 하지만 인류 공동체에서 인간의 고유한 본성은 보편적 가치를 지니고 있다는 점에서 그것은 우리에게 상당한 의미를 가져다준다. 인간의 본성을 이해하는 것은 어렵다. 하지만 우리는 그것을 밝히기 어렵다고 방관해서는 안 된다.BR 한편 유전자의 개량 기술은 인간의 후천적 노력과 성취로 주어진 인간의 여러 특성들을 잠식하게 될 수 있다. 신체증강 시대에 우수한 유전자를 선별하는 과정에서 그 혜택을 누린 인류는 우연히 주어진 개개인의 잠재력을 무시하게 될 것이다. (...) 인간이 가진 겸손 그리고 개인이 감당해야 할 책임과 연대의 형태는 생명공학 시대에 변화를 피할 수 없게 되었다.BR 신체증강 시대에 인류가 생물학적 완전성을 추구하게 되면 우리가 보편적으로 추구해왔던 공동체적 삶, 연대, 노력 등의 보편적 가치를 외면하기 때문에 연대와 협동을 속성으로 하는 덕윤리는 신체 증강시대에 꼭 필요로 하게 되었다.BR 이에 논자는 생명공학 시대에 맞게 바람직한 덕 윤리의 방향을 제시하고 한다. 신체증강을 통해 공동체의 다양한 형태들의 변화가 생기면서 덕윤리는 더욱 필요로 하게 되었다. 논자는 유전자 차별로서의 사회가 아닌 공동체 연대와 가치를 추구하는 사회를 다시금 요청할 것이다. (shrink)

We know today that classical eugenics, of an essentially negative nature, was not only an aggressive and brutal practice but, like its positive counterpart, inefficient as well. In fact, numerous biological, sociological, and psychological events beyond our control arise to prevent the realisation of any eugenic plan. Thus, like all human beings, individuals whose procreation is encouraged by positive eugenics suffer unexpected mutations that are transmitted to their offspring by their gametes. Gene distribution among the gametes at meiosis (...) is the result of an uncontrollable, natural lottery. As an effect of this lottery, positive eugenics could allow the birth of defective babies whereas negative eugenics precludes the birth of normal babies. (shrink)

The objectives of this study were to develop a high-density chromosome bin map of homoeologous group 7 in hexaploid wheat, to identify gene distribution in these chromosomes, and to perform comparative studies of wheat with rice and barley. We mapped 2148 loci from 919 EST clones onto group 7 chromosomes of wheat. In the majority of cases the numbers of loci were significantly lower in the centromeric regions and tended to increase in the distal regions. The level of (...) duplicated loci in this group was 24% with most of these loci being localized toward the distal regions. One hundred nineteen EST probes that hybridized to three fragments and mapped to the three group 7 chromosomes were designated landmark probes and were used to construct a consensus homoeologous group 7 map. An additional 49 probes that mapped to 7AS, 7DS, and the ancestral translocated segment involving 7BS also were designated landmarks. Landmark probe orders and comparative maps of wheat, rice, and barley were produced on the basis of corresponding rice BAC/PAC and genetic markers that mapped on chromosomes 6 and 8 of rice. Identification of landmark ESTs and development of consensus maps may provide a framework of conserved coding regions predating the evolution of wheat genomes. (shrink)

Genes adjacent to species-specific loci are 6.2% older than genes adjacent to other dynamic loci (P < 10−2 by randomization; gray bars in Fig. 3); thus, species-specific genes are not randomly distributed but are found preferentially in the older regions, indicating that the incipient Escherichia and Salmonella lineages continued to participate in recombination at loci unlinked to lineage-specific genes.

The distribution pattern of the meiotic machinery in known eukaryotes is most parsimoniously explained by the hypothesis that all eukaryotes are ancestrally sexual. However, this assumption is questioned by preliminary results, in culture conditions. These suggested that Acanthamoeba, an organism considered to be largely asexual, constitutively expresses meiosis genes nevertheless—at least in the lab. This apparent disconnect between the “meiosis toolkit” and sexual processes in Acanthamoeba led to the conclusion that the eukaryotic ancestor is asexual. In this review, the (...) “meiosis toolkit” is rigorously defended, drawing on numerous research articles. Additionally, the claim of constitutive meiotic gene expression is probed in Acanthamoeba via the same transcriptomics data. The results show that the expression of the meiotic machinery is not constitutive in Acanthamoeba as claimed before. Furthermore, it is argued that this would have no implications for understanding the nature of the eukaryotic ancestor, regardless of the result. (shrink)