Nucleolar organizer region variants as a risk factor for Down syndrome.

An unusual nucleolar organizer region (NOR) heteromorphism was noted among 13 of 41 parents in whom nondisjunction leading to trisomy 21 was known to have occurred. In contrast, only one of these double NOR (dNOR) variants was found among the 41 normal spouses and none were seen among 50 control individuals. In two dNOR(+) families, a second child with trisomy 21 was conceived. In both families, the extra chromosome in each child was contributed by the parent who carried the dNOR variant and resulted from a recurrent meiosis I error. Our data suggest that the dNOR heteromorphism may play a role in meiotic nondisjunction and could be associated with as much as a 20-fold increased risk for having offspring with trisomy 21.     

The phylogeny fallacy and the ontogeny fallacy

In 1990 Robert Lickliter and Thomas Berry identified the phylogeny fallacy, an empirically untenable dichotomy between proximate and evolutionary causation, which locates proximate causes in the decoding of ‘genetic programs’, and evolutionary causes in the historical events that shaped these programs. More recently, Lickliter and Hunter Honeycutt (Psychol Bull 129:819–835, 2003a) argued that Evolutionary Psychologists commit this fallacy, and they proposed an alternative research program for evolutionary psychology. For these authors the phylogeny fallacy is the proximate/evolutionary distinction itself, which they argue constitutes a misunderstanding of development, and its role in the evolutionary process. In this article I argue that the phylogeny fallacy should be relocated to an error of reasoning that this causal framework sustains: the conflation of proximate and evolutionary explanation. Having identified this empirically neutral form of the phylogeny fallacy, I identify its mirror image, the ontogeny fallacy. Through the lens of these fallacies I attempt to solve several outstanding problems in the debate that ensued from Lickliter and Honeycutt’s provocative article.     

Habitat preference reflects social organization of humpback whales (Megaptera novaeangliae) on a wintering ground

Habitat preference is driven by a complex interaction among behavioural patterns, biological requirements, and environmental conditions. These variables are difficult to determine for any species but are further complicated for migratory marine mammals, such as humpback whales Megaptera novaeangliae . Patterns of habitat use in relation to social organization potentially exist for this species on their wintering grounds. Using an integrated GIS approach, we examined the degree to which spatial patterns of habitat stratification are correlated within different humpback whale group types from 6 years of sighting data (1996–2001) collected on the Antongil Bay, Madagascar, wintering ground. Stratification of humpback whale sightings by behavioural classification showed significant variation in depth and distance from shore. Distribution by depth could not be described as a function of group size but could be described as a function of social organization, with mother–calf pairs showing a strong preference for shallower water compared to all other group types. Group size and social organization seem to be factors in distribution by distance from shore. Significant diurnal patterns in distribution by depth and distance from shore also exist, where mother–calf groups maintain a relatively stable distribution and pairs and competitive groups are the most variable. Patterns of habitat preference on this wintering ground appear to be guided by social organization, where distribution by depth and distance from shore highlight areas critical to conservation.     

Parental misclassification of child overweight/obese status: The role of parental education and parental weight status

Childhood overweight and obesity is a major public health challenge for policymakers in many countries. As the most common supervisors of children’s activities, parents have a potentially important role to play in obesity prevention. However, a precondition for parents to improve their children’s diets, encourage them to be more physically active, or take them to see a doctor about their weight is for the parent to first recognize that their child is overweight or obese. This paper examines the extent of parental misclassification of child weight status, and its correlates, focusing on the role of parental education and the parent’s own obesity status. We find evidence that, among non-obese parents, those who are better-educated report their child’s weight status more accurately, but among obese parents, the better-educated are 45.18% more likely than parents with lower secondary education to give a false negative report of their child’s overweight/obesity; this may reflect social desirability bias.     

Is there a link between cot death and child abuse?

Forty five babies delivered in Oxford obstetric units who subsequently died unexpectedly in infancy were compared with 134 controls matched for maternal age, social class, parity, and year of birth to see whether five factors identified in an earlier study as predictive of subsequent child abuse would also predict the sudden infant death syndrome. Epidemiological findings had suggested certain similarities between the two events. In contrast with babies who were abused, four of the five factors did not distinguish between babies who died suddenly and unexpectedly and their controls, but there was a slight increase in the proportion of mothers of babies who died suddenly and unexpectedly for whom nursing staff thought that support and advice on feeding the baby were needed. Factors predictive of child abuse did not predict sudden infant death in this study.     

CLONING, PARENTHOOD, AND GENETIC RELATEDNESS

In this paper I examine what I take to be the best case for reproductive human cloning, as a medical procedure designed to overcome infertility, and argue that it founders on an irresolvable tension in the attitude towards the importance of being ‘genetically related’ to our children implied in the desire to clone. Except in the case where couples are cloning a child they have previously conceived naturally, cloning is unable to establish the right sort of genetic relation to make couples the parents of their cloned child. If anybody is the genetic parent of a cloned child it is the natural parent(s) of the DNA donor. Paradoxically, in order to resist the claims of the parents of the donor to the cloned child, the argument for human reproductive cloning must place more weight on the intention to parent a child, than we do in cases of ordinary reproduction. It must insist that the parental relation is established by the intentions of the couple who bring a clone into the world and not by their genetic relation to the child. The emphasis placed on intention as establishing the parental relationship works to undermine the justification for cloning in the first place. For cloning to play a useful role as a reproductive technology, it must allow couples to become parents who could do so no other way. However, to the extent that intention is sufficient to establish parenthood, adoption or surrogacy, which are existing alternatives to cloning, will serve equally well to allow couples to become parents.     

Heterothallism in Saccharomyces cerevisiae isolates from nature: effect of HO locus on the mode of reproduction

Understanding the evolution of sex and recombination, key factors in the evolution of life, is a major challenge in biology. Studies of reproduction strategies of natural populations are important to complement the theoretical and experimental models. Fungi with both sexual and asexual life cycles are an interesting system for understanding the evolution of sex. In a study of natural populations of yeast Saccharomyces cerevisiae , we found that the isolates are heterothallic, meaning their mating type is stable, while the general belief is that natural S. cerevisiae strains are homothallic (can undergo mating-type switching). Mating-type switching is a gene-conversion process initiated by a site-specific endonuclease HO; this process can be followed by mother–daughter mating. Heterothallic yeast can mate with unrelated haploids (amphimixis), or undergo mating between spores from the same tetrad (intratetrad mating, or automixis), but cannot undergo mother–daughter mating as homothallic yeasts can. Sequence analysis of HO gene in a panel of natural S. cerevisiae isolates revealed multiple mutations. Good correspondence was found in the comparison of population structure characterized using 19 microsatellite markers spread over eight chromosomes and the HO sequence. Experiments that tested whether the mating-type switching pathway upstream and downstream of HO is functional, together with the detected HO mutations, strongly suggest that loss of function of HO is the cause of heterothallism. Furthermore, our results support the hypothesis that clonal reproduction and intratetrad mating may predominate in natural yeast populations, while mother–daughter mating might not be as significant as was considered.     

WHAT IS IT TO BE A DAUGHTER? IDENTITIES UNDER PRESSURE IN DEMENTIA CARE

This article concentrates on the care for people who suffer from progressive dementia. Dementia has a great impact on a person’s well‐being as well as on his or her social environment. Dealing with dementia raises moral issues and challenges for participants, especially for family members. One of the moral issues in the care for people with dementia is centred on responsibilities; how do people conceive and determine their responsibilities towards one another? To investigate this issue we use the theoretical perspective of Margaret Walker. She states that ideas about identity play a crucial role in patterns of normative expectations with regard to the distribution of responsibilities in daily practices of care. The results of this study show how the identity of a family‐member is put under pressure and changes during her loved one’s illness that leads to difficulties and misunderstandings concerning the issue of responsibility. These results offer an insight into the complexities of actual practices of responsibility and highlight the importance for those caring for people with dementia of attending carefully to how they see themselves and how they see other people involved (Who am I? Who do I want to be for the other?). Answers to such questions show what people expect from themselves and from one another, and how they, at any rate, are distributing responsibilities in a given situation. Professional caregivers should take into account that family members might have different ideas about who they are and consequently about what their responsibilities are.     

REVISITING CHILD‐BASED OBJECTIONS TO COMMERCIAL SURROGACY

Many critics of commercial surrogate motherhood argue that it violates the rights of children. In this paper, I respond to several versions of this objection. The most common version claims that surrogacy involves child‐selling. I argue that while proponents of surrogacy have generally failed to provide an adequate response to this objection, it can be overcome. After showing that the two most prominent arguments for the child‐selling objection fail, I explain how the commissioning couple can acquire parental rights by paying the surrogate only for her reproductive labor. My explanation appeals to the idea that parental rights are acquired by those who have claims over the reproductive labor that produces the child, not necessarily by those who actually perform the labor. This account clarifies how commercial surrogacy differs from commercial adoption. In the final section of the paper, I consider and reject three further child‐based objections to commercial surrogacy: that it establishes a market in children's attributes, that it requires courts to stray from the best interests standard in determining custodial rights, and that it requires the surrogate to neglect her parental responsibilities. Since each of these objections fails, children's rights probably do not pose an obstacle to the acceptability of commercial surrogacy arrangements.     

My Child Redeems My Broken Dreams: On Parents Transferring Their Unfulfilled Ambitions onto Their Child

From the early days of psychology, theorists have observed that parents sometimes transfer their own unfulfilled ambitions onto their child. We propose that parents are especially inclined to do so when they see their child as part of themselves, more so than as a separate individual. When parents see their child as part of themselves, their child’s achievements may easily come to function as a surrogate for parents’ own unfulfilled ambitions. In the present experiment, 73 parents (89% women, M _age = 43 years) were randomly assigned to reflect on either their own or others’ unfulfilled ambitions. Results showed that, when faced with their own unfulfilled ambitions, parents who see their child as part of themselves want their child to fulfill their unfulfilled ambitions. This study provides the first experimental evidence to suggest that parents may desire their child to redeem their broken dreams.     

PHYSIOLOGICAL AND BEHAVIORAL DEVELOPMENT IN DELPHINID CALVES: IMPLICATIONS FOR CALF SEPARATION AND MORTALITY DUE TO TUNA PURSE-SEINE SETS

Tuna purse-seiners in the eastern tropical Pacific (ETP) capture yellowfin tuna by chasing and encircling herds of associated dolphins. This fishery has caused mortality in 14 dolphin species (20 stocks) and has led to significant depletions of at least three stocks. Although observed dolphin mortality is currently low, set frequency remains high and dolphin stocks are not recovering at expected rates. Mortality of nursing calves permanently separated from their mothers during fishery operations may be an important factor in the lack of population recovery, based on the recent discovery that calves do not accompany 75%–95% of lactating females killed in the purse-seine nets. We assessed age-specific potential for mother–calf separations and subsequent mortality of calves by reviewing and synthesizing published data on physiological and behavioral development in delphinids from birth through 3 yr postpartum. Results indicate that evasive behavior of mothers, coupled with the developmental state of calves, provides a plausible mechanism for set-related mother–calf separations and subsequent mortality of calves. Potential for set-related separation and subsequent mortality is highest for 0–12-mo-old dolphins and becomes progressively lower with age as immature dolphins approach adult stamina and attain independence.     

Sfrp1 and Sfrp2 are not involved in Wnt/β-catenin signal silencing during lens induction but are required for maintenance of Wnt/β-catenin signaling in lens epithelial cells

During eye lens development, regulation of Wnt/β-catenin signaling is critical for two major processes: initially it must be silent in the lens placode for lens development to proceed, but subsequently it is required for maintenance of the lens epithelium. It is not known how these different phases of Wnt/β-catenin activity/inactivity are regulated. Secreted frizzled related protein-2 (Sfrp2), a putative Wnt-Fz antagonist, is expressed in lens placode and in lens epithelial cells and has been put forward as a candidate for regional Wnt/β-catenin pathway regulation. Here we show its closely-related isoform, Sfrp1, has a complimentary pattern of expression in the lens, being absent from the placode and epithelium but expressed in the fibers. As mice with single knockouts of Sfrp1 or Sfrp2 had no defects in lens formation, we examined lenses of Sfrp1 and Sfrp2 double knockout (DKO) mice and showed that they formed lens placode and subsequent lens structures. Consistent with this we did not observe ectopic TCF/Lef activity in lens placode of DKOs. This indicates that Sfrp1 and Sfrp2 individually, or together, do not constitute the putative negative regulator that blocks Wnt/β-catenin signaling during lens induction. In contrast, Sfrp1 and Sfrp2 appear to have a positive regulatory function because Wnt/β-catenin signaling in lens epithelial cells was reduced in Sfrp1 and Sfrp2 DKO mice. Lenses that formed in DKO mice were smaller than controls and exhibited a deficient epithelium. Thus Sfrps play a role in lens development, at least in part, by regulating aspects of Wnt/β-catenin signaling in lens epithelial cells.     

The architect and the bee: some reflections on postmortem pregnancy

Do physicians have a duty to sustain the pregnancies of women who die during the first or second trimester? Physicians cannot simply assume that the woman would have wished the pregnancy to continue, nor (in the U. S., at any rate) is it clear that the state has any interest in fetal life before viability. The conditions for beneficence-based duties of fetal rescue will often be unmet, both because sustaining the pregnancy is not always a clear gain to the born child and because it may impose a substantial burden on the benefactor. And duties of special relationship cannot readily be applied in these cases, as it is difficult to see how the relationship between someone who no longer exists and someone who does not yet exist can breed special duties. Further, to draw on Marx's distinction between the architect, who builds purposefully, and the bee, who cannot help what she is doing, I argue that human pregnancy is in a number of respects purposeful, creative, and deliberate, and that postmortem pregnancy, which follows the model of the bee, is a destructive icon that undercuts women's agency.     

BEYOND ALTRUISTIC AND COMMERCIAL CONTRACT MOTHERHOOD: THE PROFESSIONAL MODEL

It has become common to distinguish between altruistic and commercial contract motherhood (or ‘surrogacy’). Altruistic arrangements are based on the ‘gift relationship’: a woman is motivated by altruism to have a baby for an infertile couple, who are free to reciprocate as they see fit. By contrast, in commercial arrangements both parties are motivated by personal gain to enter a legally enforceable agreement, which stipulates that the contract mother or ‘surrogate’ is to bear a child for the intending parents in exchange for a fee. She is required to undergo medical examinations and to refrain from behaviour that could harm the foetus. The intending parents are the child's legal parents from the outset. The parties to the contract can, but are not expected to, maintain contact after the transaction is completed. We argue that contract motherhood should not be organized according to the norms of the gift relationship, and that contract mothers should be compensated for their labour. However, we accept that there are good reasons for rejecting the commercial model as a suitable framework for contract pregnancy, and argue, instead, in favour of viewing it as a profession.     

Prospective and retrospective duration memory in the hippocampus: is time in the foreground or background?

Psychologists have long distinguished between prospective and retrospective timing to highlight the difference between our sense of duration during an experience in passing and our sense of duration in hindsight. Humans and other animals use prospective timing in the seconds-to-minutes range in order to learn durations, and can organize their behaviour based upon this knowledge when they know that duration information will be important ahead of time. By contrast, when durations are estimated after the fact, thus precluding the subject from consciously attending to temporal information, duration information must be extracted from other memory representations. The accumulated evidence from prospective timing research has generally led to the hippocampus (HPC) being casted in a supporting role with prefrontal–striatal, cortical or cerebellar circuits playing the lead. Here, I review findings from the animal and human literature that have led to this conclusion and consider that the contribution of the HPC to duration memory is understated because we have little understanding about how we remember duration.     

My mother or father: person,metaperson, and transcendence in ethnographic theory

How do humans, who are materially composed biological constructs, come to transcend – that is, to see themselves as present in – the world? This article sustains that, in order to understand transcendence in personhood, we have to see the latter as a product of dividual not individual participation, as initially proposed by Lévy-Bruhl and recently developed by a number of phenomenologically inspired cognitive scientists. This being the case, it becomes necessary to account for the relation between essence and existence in the case of metapersons (ghosts, deities, ancestors, some animals, etc.). In this essay, I suggest that this, too, must be explained by reference to the ontogeny of persons-who-wakingly-live-in-the-world. In order to explore this issue, I discuss an occurrence that took place in my presence without my noticing it at the time when I was visiting an Afro-Brazilian temple compound in coastal Bahia (Northeast Brazil) in July 2011.     

Macromolecular organization of basement membranes. Characterization and comparison of glomerular basement membrane and lens capsule components by immunochemical and lectin affinity procedures

The macromolecular components of bovine glomerular basement membrane (GBM) and lens capsules (anterior and posterior) solubilized by sequential extractions with denaturing agents were quantitated and characterized by polyacrylamide gel electrophoresis, CL-6B filtration, and DEAE-cellulose chromatography with the help of immunochemical techniques. Laminin, entactin, fibronectin, and heparan sulfate proteoglycan were primarily recovered (over 80%) from both basement membranes in a guanidine HCl extract which contained only a limited amount of the total protein (10-14%); most of the remainder of these noncollagenous components could be solubilized by the guanidine in the presence of reducing agent. Although a portion of the Type IV collagen could be obtained by these treatments, effective extraction of this protein depended on exposure to sodium dodecyl sulfate under reducing conditions. Immunoblot analysis revealed a remarkably similar pattern for GBM and lens capsule Type IV collagens with prominent bands of Mr = 390,000, 210,000, and 190,000 being evident. Fibronectin was present in much greater amounts in GBM than lens capsule while the reverse was true for entactin. In both GBM and lens capsules, the entactin (Mr = 150,000) exceeded laminin; the latter protein on immunoblotting was found to contain primarily the alpha-subunit (Mr = 200,000). The size of the heparan sulfate proteoglycan from anterior (Mr = 400,000) and posterior lens capsule (Mr greater than 500,000) was substantially larger than that from GBM (Mr = 200,000). During DEAE-cellulose chromatography under nonreducing conditions in a denaturing solvent, a portion of the Type IV collagen coeluted with the proteoglycan from these membranes. Considerable Bandeiraea simplicifolia I binding activity (alpha-D-galactose specific) was observed in GBM and lens capsule extracts and column fractions which could not be accounted for by laminin alone. Several components which reacted with this lectin were seen on transblots and among these Type IV collagen was identified. In contrast to the basement membranes from bovine tissues, the constituents from human GBM did not react with the B. simplicifolia I lectin.     

Selecting potential children and unconditional parental love

For now, the best way to select a child's genes is to select a potential child who has those genes, using genetic testing and either selective abortion, sperm and egg donors, or selecting embryos for implantation. Some people even wish to select against genes that are only mildly undesirable, or to select for superior genes. I call this selection drift – the standard for acceptable children is creeping upwards. The President's Council on Bioethics and others have raised the parental love objection : Just as we should love existing children unconditionally, so we should unconditionally accept whatever child we get in the natural course of things. If we set conditions on which child we get, we are setting conditions on our love for whatever child we get. Although this objection was prompted by selection drift, it also seems to cover selecting against genes for severe impairments.
I argue that selection drift is not inconsistent with the ideal of unconditional parental love and, moreover, that the latter actually implies that we should practise selection drift – in other words, we should try to select potential children with the best genetic endowments. My endowment argument for the second claim works from an analogy between arranging an endowment prior to conception to fund a future child's education, and arranging a genetic endowment by selecting a potential child who already has it, where in both cases the child would not have existed without the endowment. I conclude with some programmatic remarks about the nonidentity problem.     

Functional Effects of Casein Kinase I-Catalyzed Phosphorylation on Lens Cell-to-Cell Coupling

The functional consequence of the casein kinase I-catalyzed phosphorylation of the lens gap junctional protein connexin49 was investigated using a sheep primary lens cell culture system. To determine whether the phosphorylation of connexin49 catalyzed by endogenous casein kinase I results in an altered junctional communication between lens cells, the effect of the casein kinase I-specific inhibitor CKI-7 on Lucifer Yellow dye transfer between cells in the lens culture was examined. Dye transfer was analyzed in cultures of different ages because we have demonstrated previously that the expression of connexin49 increases as the cultures age while that of connexin43, which is likely not a substrate for casein kinase I, has been shown to decrease [Yang & Louis (1999) Invest. Ophthalmol. Vis. Sci. 41: 2568–2564]. In 9-day old lens cultures, in which gap junctions are composed primarily of connexin43, CKI-7 had little effect on the rate of dye transfer between lens cells. In contrast, treatment of 15-day and 28-day old cultures with CKI-7 resulted in a significant increase in the rate of dye transfer. Thus, the extent of this CKI-7-dependent increase in cell-to-cell communication was positively correlated with the level of expression of connexin49, the major casein kinase I substrate in lens plasma membranes. These results suggest that the casein kinase I-catalyzed phosphorylation of connexin49 decreases cell communication between connexin49-containing gap junctions in the lens. Received: 31 July 2000/Revised: 12 January 2001