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We developed 10 polymorphic microsatellite loci for the Japanese paper wasp Polistes rothneyi using the magnetic particle method. Eight of the 10 loci tested were highly polymorphic, having four to eight alleles in P. rothneyi with an expected heterozygosity of 0.60–0.75. They also appeared to be applicable to other related species such as Polistes jokahamae. These loci can be used to study parameters concerning genetic relatedness such as worker reproduction and kin structure. [ABSTRACT FROM AUTHOR]

This paper explores the balance of genetic and environmental influences on dyslexia in generally supportive educational environments. Evidence from family studies suggests and research with identical and fraternal twins confirms the presence of strong genetic influences on dyslexia, though the way dyslexia is defined influences the degree of genetic influence. The behavioural genetic evidence is supported with molecular genetic evidence from DNA analyses suggesting regions on several different chromosomes where genes related to dyslexia are likely to be found. The behavioural and molecular genetic analyses are also applied to different component word reading skills (orthographic coding and phonological decoding) as well as to related language skills (phoneme awareness) to better understand the genetic and cognitive pathways to dyslexia. Copyright © 2002 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

College freshmen completed a paper-and-pencil wellness assessment instrument and a supplemental questionnaire and were given a number of physical tests including measures of body composition, cholesterol, blood pressure, and pulse rate. Analyses indicated there were no significant relationships between specific paper-and-pencil physical scores and specific objective physiological indicators but that when several wellness scores were considered simultaneously and general indicators of health were used, significant relationships did exist. There were also significant relationships between wellness scores and people's perceptions of their health. Limitations and implications of the results are discussed. [ABSTRACT FROM AUTHOR]

The article offers information on the XXVI INTERNATIONAL CONGRESS OF PSYCHOLOGY as of June 1996. Topics discussed include stereotyping the outgroup: effects of perceived ability on estimated task performance with similar and different others; examination of complex behaviors using genetic strategies; and analysis of circadian behavioral rhythms using genetically altered mice.

The fifth Bioengineering and Image Research Opportunities Workshop (BIROW V) was held on January 18–19, 2008. As with previous BIROW meetings, the purpose of BIROW V was to identify and characterize research and engineering opportunities in biomedical engineering and imaging. The topic of this BIROW meeting was Imaging and Characterizing Structure and Function in Native and Engineered Tissues. Under this topic, four areas were explored in depth: (1) Heterogeneous single-cell measurements and their integration into tissue and organism models; (2) Functional, molecular and structural imaging of engineered tissue in vitro and in vivo; (3) New technologies for characterizing cells and tissues in situ; (4) Imaging for targeted cell, gene and drug delivery. [ABSTRACT FROM AUTHOR]

The aim of this study was to further explore the molecular genetic bases of the clinically important but rare blood group phenotypes p, p1k and p2k by analysis of the 4-α-galactosyltransferase (Pk) and 3-β-N-acetylgalactosaminyltrans- ferase (P) genes responsible for synthesis of the related pk (Gb3) and p (Gb4) antigens respectively. Lack of these glycolipid moieties is associated with severe transfusion reactions and recurrent spontaneous abortions but also offers immunity against certain infectious agents. Blood samples from 20 p and p1k or p2k individuals of different geographic and ethnic origin were investigated. DNA sequencing by capillary electrophoresis was performed following amplification of the coding regions in the Pk or P genes. In the pk gene, nine novel and five previously described mutations were detected. One of the newly found mutations introduced an immediate stop, five shifted the reading frame introducing premature stop codons and three were missense mutations causing amino acid substitutions in conserved regions of the transferase. Four new and two previously described mutations in the P gene were found. Three of the novel alleles reported here carried nonsense mutations whilst the fourth allele had a missense mutation. The finding of 13 novel mutations in 14 alleles emphasizes further the genetic heterogeneity at the glycosyltransferase loci underlying the GLOB blood group system and collection. [ABSTRACT FROM AUTHOR]

FLT-3 aberrations that occur as an internal tandem duplication (ITD) or a mutation at the activation-loop position 835, D835, are common in acute promyelocytic leukaemia (APL). We investigated the clinicopathological associations and prognostic impact of FLT-3 aberrations in a cohort of APL patients. FLT-3 exons 11 and 12 were amplified by polymerase chain reaction (PCR), and the lTD was recognized as an increase in the size of the PCR product. FLT-3 exon 17 was amplified, and D835 mutation was identified by loss of an EcoRV site, followed by DNA sequencing. Of 82 patients studied, FLT-3 aberrations were detected in 35 cases (43%) at diagnosis (ITD: 16; D835 mutation: 18; lTD + D835 mutation: 1). FLT-3 ITD, but not D835 mutations, was significantly associated with higher presentation white blood cell count (WBC) and microgranular morphology. Early/induction deaths were related to male sex and high presentation WBC. There was a trend for FLT-3 lTD to be associated with non-remission (P = 0.06). For disease-free survival, high WBC was the only significant adverse factor. Male sex, high WBC and FLT-3 lTD were significant adverse factors for overall survival. These findings have important implications on the possible use of FLT-3 inhibitors in the treatment of APL. [ABSTRACT FROM AUTHOR]

Inherited factor VII (FVII) deficiency is a rare autosomal recessive disorder associated with a bleeding tendency. We describe three patients with congenital FVII deficiency who have been treated with activated recombinant factor VII (rVIIa). Two patients had novel mutations and were treated prophylactically with P2 mg rVIIa two to three times a week. Patients I and 2 had a severe bleeding tendency. The frequency and severity of bleeding decreased by treatment with rVIIa compared with similar treatment with plasma-derived FVII. The third patient with a moderate bleeding phenotype was treated on demand and showed no change in the frequency of bleeding upon treatment with rVIIa or plasma products. The beneficial effect of rVIIa cannot be explained by the rVIIa half-lives. Pharmacokinetical analysis showed rVIIa activity half-lives of 35, 50 and 54 mm for patients 1, 2 and 3, respectively. In conclusion, prophylactic treatment of FVII deficient patients with rVIIa appears to be applicable, safe and successful, although the mechanism of action remains to be elucidated. [ABSTRACT FROM AUTHOR]

We analysed the nature and prognostic significance of secondary cytogenetic changes in 111 newly diagnosed adults with acute lymphoblastic leukaemia (ALL) and t(9;22)(q34;q11.2) or its variants. Secondary aberrations were seen in 75 (68%) patients. They included, in order of descending frequency: +der(22)t(9;22), +21, abnormalities of 9p, high hyperdiploidy (>50 chromosomes), +8, −7, +X and abnormalities resulting in loss of material from 8p, gain of 8q, gain of 1q and loss of 7p. Eighty patients (72%) had ≥1 normal metaphase in their karyotype. There were four balanced and 12 unbalanced translocations previously unreported in ALL with t(9;22). The t(2;7)(p11;p13) and der(18)t(8;18)(q11.2;p11.2) were seen in two cases each, and have never before been reported in haematological malignancy. All but four patients were treated on front-line Cancer and Leukaemia Group B clinical protocols. The presence of −7 as a sole secondary abnormality was associated with a lower complete remission (CR) rate ( P = 0·004), while the presence of ≥3 aberrations was associated with a higher CR rate ( P = 0·009) and +der(22)t(9;22) with a higher cumulative incidence of relapse ( P = 0·02). It will be of interest to see if newly diagnosed t(9;22)-positive adult ALL patients with these and other secondary aberrations respond differently to treatment regimens that include imatinib mesylate. [ABSTRACT FROM AUTHOR]

Mantle cell lymphoma (MCL) shares immunophenotypic and karyotypic features with chronic lymphocytic leukaemia. The latter comprises two distinct entities with prognosis dependent upon immunoglobulin heavy chain (IgH) gene mutational status and the presence of 11q deletion. We evaluated the relevance of IgH gene mutational status, IgV gene family usage and presence of 11q deletion in a series of 42 histologically reviewed classical MCL cases to determine the prognostic impact. VH3 was the most common VH family, with VH3-21 being the most frequent individual VH gene. Approximately 30% of the cases had a IgH somatic mutation rate higher than 2%, but was only higher than 4% in <10% of cases. Half of the cases had deletion of chromosome 11q21-telomere (11q21->ter), with two minimal deleted regions, at 11q22.2 and 11q23.2. There was no association between 11q loss and IgH gene somatic mutation rate; the use of VH3-21 gene could be associated with a better prognosis. [ABSTRACT FROM AUTHOR]

BAT-25 and BAT-26 are mononucleotide microsatellites with quasi-monomorphic allele length distribution in healthy controls but unstable, shortened alleles in solid organ tumours with a mutator phenotype (RER+). Both markers are highly sensitive and specific for RER+ colorectal cancer. This study evaluated three mononucleotide microsatellites, BAT-25, BAT-26 and BAT-40 (a polymorphic mononucleotide microsatellite) in RER+ acute myeloid leukaemia (AML). Sixteen [six therapy-related AML (t-AML), 10 de novo AML] known RER+ AML, 22 healthy controls and five known RER− AML samples were analysed. In healthy controls and RER− AML, BAT-25 and BAT-26 were quasi-monomorphic and BAT-40 was polymorphic. Of the RER+ AML samples, 0 of 16 had microsatellite instability (MSI) at BAT-25, 0 of 16 had MSI at BAT-26 and three of 16 had MSI at BAT-40. We conclude that BAT-25, BAT-26 and BAT-40 microsatellites are insensitive to RER+ AML. Further studies are required to determine a consensus panel of sensitive microsatellites for use in AML. [ABSTRACT FROM AUTHOR]

For the last 20 years, in vitro xylogenic cultures of Zinnia elegans have been routinely used to study tracheary element (TE) formation. That said, the precise anatomical relationship between in vitro and in planta xylogenesis in Zinnia has been completely ignored. In order to make this comparison, we provide herein a much needed description of xylem tissue of the Zinnia plant. Based on the proportions of secondary wall thickenings, the in vitro TE system most closely resembles hypocotyl vasculature. Moreover, we have shown by confocal microscopy that vessel-like structures of up to five individual TEs are produced in vitro, suggesting that the formation of multicellular structures and cell–cell communication during in vitro TE formation are far more extensive than previously suspected. Finally, as more and more genes become available through genomic approaches of Zinnia TEs, it will be necessary to precisely localize them in planta as a first step in elucidating gene function. Our results provide the histological groundwork for this very purpose. [ABSTRACT FROM AUTHOR]

These comments focus on some issues raised in the papers by Dimand, Peart and Levy, Cot, and Leonard. These papers are fascinating, but not without weaknesses. It is argued that Dimand's presentation of what he calls the “general principle” of classical economics is misconceived. There is a confusion in this paper between the classical view of equal capacity and the much newer concept of equally rational actual performance. Peart and Levy discuss the idea of unequal capacity for pleasure in Edgeworth, but do not draw a link back to the idea in J. S. Mill of different qualities of pleasure. Cot and Leonard provide informative accounts of the American eugenic movement and its links to progressivism, but with an insufficient degree of distinction between the various positions and agendas that were concerned. [ABSTRACT FROM AUTHOR]

Background: This commentary discusses the recent paper by , placing their results into perspective. Results: Quinn and Fromme's meta-analysis is an important and useful synthesis of a complex literature. It is clear, well written, and well reasoned, with conclusions that are relevant to both the Low Level of Response Model and the Differentiator Model. Conclusions: Drs. Quinn and Fromme use a thorough and thoughtful approach, and I encourage researchers to address the important questions raised by their meta-analysis. [ABSTRACT FROM AUTHOR]

Indirect benefits obtained through the reproduction of relatives are fundamental in the formation and maintenance of groups. Here, we examine the hypothesis that females of the temperate paper wasp Polistes dominulus preferentially form groups with close relatives. Genetic relatedness data were obtained for 180 groups of females collected at the early stages of the nesting cycle of a large population of P. dominulus in two sites in southwestern Spain. Average within-group relatedness values ranged from 0.189 to 0.491. Foundresses on early nests were significantly more closely related than females in winter aggregations or in stable groups (just before workers emerged). Within-group relatedness values were independent of group size. The vast majority of worker-producing nests ( c. 85%) had one or more females that were unrelated (or distantly related) to the remaining members of the group. These results provide further support to the hypothesis that indirect fitness benefits alone are unlikely to explain why P. dominulus foundresses form cooperative associations. [ABSTRACT FROM AUTHOR]

The article discusses the role played by epigenetics in the field of reproductive medicine. The natural times when developmental epigenetic reprogramming takes place in gametes almost matches the time of human assisted reproduction when the gametes and embryos are handled in an in vitro environemnt. Information is also given on genomic imprinting and in vitro culture of embryos.

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Fertility treatment enables involuntary childless people to have genetically related children, something that, for many, is a valuable life project. In this paper, I respond to two sets of objections that have been raised against expanding state‐funded fertility treatment provision for existing treatments, such as in vitro fertilisation (IVF), and against funding new treatments, such as uterine transplantation (UTx). Following McTernan, I refer to the first set of objections as the 'one good among many' objection. It purports that it is unjustifiable for the state to prioritise the funding of the life project of becoming a parent through fertility treatment provision over the funding of other life projects that people might have. Following Lotz, I refer to the second set of objections as the 'norm‐legitimation' objection. It maintains that the provision of costly forms of fertility treatment, such as UTx, would legitimise problematic social norms concerning genetic relatedness, reproduction and parenting, and that states should not engage in such a legitimation. In response to these objections, I defend the view that (reproductive) preferences ought to be taken more seriously when discussing fertility treatment provision and parental projects, and that not doing so can be costly, especially for women. The approach defended in this paper seeks to avoid disregarding and policing preferences and to reconcile their fulfilment with political projects aimed at improving the material and social conditions of sub‐fertile people: people who, for social or biological reasons (or an intersection of the two), are unable to reproduce unassisted. [ABSTRACT FROM AUTHOR]

The first section of this paper sets the record straight regarding many of Debouwere's (2024, Review of Education, 12, e3445) specific criticisms. The second section discusses the magnitude of the SES‐achievement relationship, specifically Debouwere's (2024) contention that the correlation is strong around 0.5 or 0.6 compared to observed correlations mostly between 0.2 and 0.3. The third section deals with five issues that Debouwere (2024) raises in his paper: (1) the stability of SES vis‐à‐vis cognitive ability; (2) the accuracy of children's reports of parents' socioeconomic characteristics; (3) whether teachers discriminate by students' SES; (4) the importance of cognitive ability for educational differentiation (i.e., tracking and streaming); and (5) SES effects on student achievement, controlling for prior achievement. The fourth section discusses the role of genetics in student achievement. Meta‐analyses and other studies indicate that about 50%–70% of the variance in student achievement is attributable to genetics (i.e., the heritability). The high heritability of student achievement accounts for its high stability, its strong correlations with cognitive ability and the weak effects of SES, net of prior achievement or cognitive ability. [ABSTRACT FROM AUTHOR]

Birth defects are the leading cause of infant death in the United States and among the top causes of pediatric death and hospitalization. Despite the devastating impact of birth defects, we understand little of their etiology impeding progress towards treatment and prevention. Moreover, while surgical interventions have improved survival for many children to beyond their first year, our inability to accurately predict, diagnose and treat the common sequelae of birth defects leaves the economic, social and public health burden of birth defects unacceptably high. An estimated one-third of all pediatric hospital beds are occupied by a child with a genetic diagnosis, and emerging genomic sequencing technologies provide an unprecedented opportunity to identify the genetic variants, including those that cause birth defects. It is essential that we leverage these advances to enhance our understanding of birth defects. Such an effort will lead to new avenues for treatment and provide benefits to families, including improved understanding of the cause of a child's condition and the risks to any future children. Understanding the genetics of human birth defects presents many challenges, some shared with other pathologies and some unique. This White Paper outlines the need for a birth defect genomics initiative, the challenges to overcome, and suggested solutions. Ultimately, we conclude that understanding birth defects must be a trans-NIH effort and involve the development of a new type of interdisciplinary team comprised of clinicians, geneticists, genomicists, epidemiologists, biostatisticians and basic cellular and developmental biologists working together in all aspects of the enterprise. Birth Defects Research 109:180-185, 2017. © 2017 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

The current set of papers in this special issue capture the range of viewpoints, scientific approaches, and populations needed to illuminate and tackle the issues of school achievement among vulnerable learners. This includes providing a framework for researchers to work from relevant policy findings, and literature reviews to small scale studies. The manuscripts also traverse different aspects of scientific inquiry – from data reported by federal and state programs, thus providing a "bird's eye view" of findings, to more granular neurobiological approaches. Across all papers is the clear theme of needing to shift from where we have been in order to establish a path forward for where we need to go to account for learners that have been relatively neglected in scientific studies. To break down barriers of inequity and increase our understanding of causes and consequences of vulnerable learners, there is a need to re‐think how we establish policies and allocate funds, as well as broadening our lens as we conduct scientific studies. Each piece in this special issue calls for the need to better understand these issues that vulnerable learners face to address inequities in our educational ecosystems. Together they provide a rich set of insights that have significant implications for science and practice. [ABSTRACT FROM AUTHOR]

In this paper we first mathematically formulate spatial genetic models that rely on dispersal kernels, using the genetic inhomogeneous Poisson process. On the basis of mapped and genotyped data pertaining to adult and juvenile trees we are able to estimate three fundamental variables of population dynamics: individual female reproductive success, seed dispersal, and pollen flow. The model was applied to a secondary Fagus crenata stand in northern Japan, regenerated after shelterwood harvesting. Highly polymorphic microsatellite data revealed that most of the juveniles around one adult tree were not that tree’s progeny and that some minor alleles were clustered there. These data suggested that another mother tree had formerly been present in the vicinity, produced offspring there and died. Inferring its genotype and location, we applied the genetic inhomogeneous Poisson process. Results confirmed that we would have wrongly assessed the regeneration if we had been unaware of the existence of the dead mother. The average distances for seed dispersal and pollen flow were 18 and 193 m, respectively. The contribution of outside mothers, simultaneously assessed using the dispersal variables in the models, ranged from 10 to 50% depending on their positions relative to preserved adults. Individual female reproductive success varied as much as fiftyfold among the eight preserved adults. Our comprehensive approach, utilizing currently available genetic information, mathematical models, and previous forestry records, helped elucidation of the past forest-regeneration processes. [ABSTRACT FROM AUTHOR]

This Special Issue of Human Brain Mapping is dedicated to a 10‐year anniversary of the Enhancing NeuroImaging Genetics through Meta‐Analysis (ENIGMA) Consortium. It reports updates from a broad range of international neuroimaging projects that pool data from around the world to answer fundamental questions in neuroscience. Since ENIGMA was formed in December 2009, the initiative grew into a worldwide effort with over 2,000 participating scientists from 45 countries, and over 50 working groups leading large‐scale studies of human brain disorders. Over the last decade, many lessons were learned on how best to pool brain data from diverse sources. Working groups were created to develop methods to analyze worldwide data from anatomical and diffusion magnetic resonance imaging (MRI), resting state and task‐based functional MRI, electroencephalography (EEG), magnetoencephalography (MEG), and magnetic resonance spectroscopy (MRS). The quest to understand genetic effects on human brain development and disease also led to analyses of brain scans on an unprecedented scale. Genetic roadmaps of the human cortex were created by researchers worldwide who collaborated to perform statistically well‐powered analyses of common and rare genetic variants on brain measures and rates of brain development and aging. Here, we summarize the 31 papers in this Special Issue, covering: (a) technical approaches to harmonize analysis of different types of brain imaging data, (b) reviews of the last decade of work by several of ENIGMA's clinical and technical working groups, and (c) new empirical papers reporting large‐scale international brain mapping analyses in patients with substance use disorders, schizophrenia, bipolar disorders, major depression, posttraumatic stress disorder, obsessive compulsive disorder, epilepsy, and stroke. [ABSTRACT FROM AUTHOR]

The article discusses the concept of evolutionary stable strategy (ESS), as well as the application of game theory in evolutionary problems. It cites the article "The Logic of Animal Conflict," which was written by John Maynard Smith and American polymath George Price in 1973 as the first description of the concept of ESS. It features the history of Price, whose 1978 paper titled "Antlers, Intraspecific Combat, and Altruism" was the basis of the first ESS.

A Case of Chromosomal 15q Proximal Tetrasomy Associated with Infantile Spasms and Partial Seizures and Review of Literature.Background:Infantile spasms are an age-dependent epileptic syndrome occurring during infancy, showing repetitive clusters of brief tonic spasms and hypsarrythmia on EEG, as well as psychomotor developmental arrest or deterioration. Numerous studies have been made concerning the etiology of this syndrome. Many causes are known, such as hypoxic encephalopathy during the perinatal period, tuberous sclerosis, and Down syndrome, although the precise underlying mechanism is unknown. Recently a few cases of infantile spasms associated with a chromosomal abnormality, 15q proximal tetrasomy, were reported. Here we present a similar case but with neurologically mild symptoms.Case Report:A 6-month-old girl with 15q proximal tetrasomy had infantile spasms (ISs) and cerebral cortical atrophy. She was born of healthy parents, after 39 weeks of gestation, with birth weight of 2,358 g. The perinatal period was uneventful. Developmental milestones were delayed, with head control at 5 months and rolling at 6 months. When she was age 6 months, her parents brought her to our clinic because of several series of tonic spasms. On physical examination, she showed no neurologically abnormal signs, except general muscle hypotonia. EEG examination showed hypsarrythmia. The brain magnetic resonance imaging and computed tomography showed diffuse cortical atrophy. No abnormal findings were observed in blood examination, CSF, and serologic tests for congenital viral infection of the CNS. A high-resolution analysis of chromosome 15 revealed 15q proximal tetrasomy, and 47,XX,+idic (15)(q13). Before treatment, the DQ score was 62. Tonic spasms subsided after zonisamide monotherapy without adrenocorticotropic hormone (ACTH) treatment. However, soon after the cessation of tonic spasms, she showed partial seizures, which was easily controlled with carbamazepine. Since then, no seizure recurrence was observed during 2 years of follow-up. The total DQ score is 52.Discussion:The supernumerary chromosome may occur in∼0.05% of live births (Buckton, 1980). As many as 50% of supernumerary chromosomes are derived from chromosome 15, and almost 80% of them are inv dup (15). The inv dup (15) individuals are known to manifest mental retardation, psychomotor developmental delay, hypotonia, behavioral abnormality, dysmorphy, and also seizure disorder, with various degrees from normal to severe. Chromosome 15 includes the Prader–Willi syndrome/Angelman syndrome (PW/AS) chromosomal region and also contains some neurotransmitter-related regions such asγ-aminobutyric acid (GABA) receptor subunitsβ3,α5, andγ3, and nicotinic receptorα7. Longer duplication is said to be associated with severe symptoms. However, some cases have large duplications with mild symptoms. The mechanism is unknown. Previously, three cases of 15q proximal tetrasomy with ISs were reported (Kobayashi, 1994; Peter, 1996; Cabrera, 1998). Among cases with inverted duplication of chromosome 15, the duplication occurred at 15pter-q13. In all cases, the ISs were easily controlled with ACTH or ZNS. However, the severity of the subsequent epilepsy varied among cases. Such variable severity is considered to arise from markers related to epileptogenesis present in the regions of duplication, although it is still controversial. Several epilepsy cases were found to be associated with inverted duplication of chromosome 15, but at different regions (i.e., 15q12, 15q14, pter-q11::q13-pter, and direct duplication of 15q15-q24). No ISs cases were among them. One case of ISs with chromosome 15 abnormalities; ring 15, was reported in Japan (Ishii et al., 1988).Conclusions:Chromosome analysis should be included to find out the etiology of West syndrome. In addition, in the case of supernumerary chromosomes, especially in inv dup (15) cases, precise analysis of markers around the PW/AS region provides more information concerning the basic mechanisms of epilepsy. Reciprocal Release Profile Between Hippocampal Monoamine and Acetylcholine Releases in a Novel Spontaneous Epilepsy Model,μ3b-Deficient Mice.Purpose:A novel adaptor protein (AP) complex type 3 (AP-3) was recently identified in mammalian cells. AP-3 is composed of two large subunits (δ andβ3A orβ3B), a medium-sizedμ subunit (μ3A orμ3B), and a smallσ subunit (σ3A orσ3B). Specific expression ofβ3B andμ3B subunits in neurons and neuroendocrine cells has been identified, suggesting that AP-3B, which is composed ofδ,β3B,μ3B, andδ3A/B subunits, has a specific role to play in neurons and may be involved in de novo synaptic vesicle biogenesis in endosomes. Recently we established theμ3B gene knockout mice (μ3B knockout mice), which have lost neuron-specific AP-3B and manifest spontaneous epileptic seizures. To understand the mechanisms of seizures inμ3B knockout mice, we determined the releases of dopamine (DA), serotonin (5-HT), and acetylcholine (ACh) inμ3B knockout mice and wild-type mice, by using hippocampal minislices in vitro.Methods:All of the experiments described here were performed in accordance with the specifications of the Animal Research Committee of Hirosaki University and met the Guidelines for Animal Experimentation of Hirosaki University.μ3B knockout mice were generated essentially as described by Nakatsu et al. (2003) and maintained the C57BL(6J background. Eight-week-old wild-type andμ3B knockout mice were used, and the hippocampal tissue was dissected according to the method of Glowinski and Iversen (1966). The 350× 350-μm thick minislices were prepared on a chopper and were incubated in 0.5 ml artificial cerebrospinal fluid (aCSF) at 35°C for 5 min. The levels of DA and 5-HT in aCSF were determined by high-performance liquid chromatography (HPLC) equipped with electrochemical detection (Eicom, Kyoto, Japan), and the level of ACh was determined by ECD-HPLC (Eicom) equipped with a postcolumn enzymatic reactor containing acetylcholinesterase and cholineoxidase (Eicom). To study the effects of an increase in extracellular K+ level on hippocampal extracellular levels of DA, 5-HT, and ACh, 50 mMpotassium–evoked stimulation was performed for 5 min after confirming stabilization of basal releases.Results:No significant difference was found in the basal releases of DA and 5-HT betweenμ3B knockout mice and wild-type mice in the hippocampus, whereas the basal hippocampal ACh release was higher inμ3B knockout mice than that in wild-type mice (p<0.05). In contrast, 50 mMpotassium–evoked hippocampal releases of DA and 5-HT inμ3B knockout mice were lower than those in wild-type mice (p<0.01), whereas potassium-evoked ACh release was significantly higher inμ3B knockout mice than in wild-type mice (p<0.01).Conclusions:In the present study, we determined the differences in neurotransmitter releases betweenμ3B knockout mice and wild-type mice, by using hippocampal minislices in vitro. This study demonstrated an imbalanced relation between hippocampal monoaminergic and acetylcholinergic transmission inμ3B knockout mice, a reduction of DA and 5-HT release and an increase of ACh release. Therefore these findings indicate that the imbalance between these neurotransmission systems may be, at least partially, involved in the mechanisms of spontaneous seizures inμ3B knockout mice. AP-3B plays an important role in the exocytosis of neurotransmitters by regulating the intracellular secretory and endocytic pathways. Monoaminergic and acetylcholinergic neurons may differentially depend on the molecules of AP complex, especially AP-3B, to exert their functions. [ABSTRACT FROM AUTHOR]

This article presents information on evaluation of the retrieval performance of co-cited author search techniques that have been limited to observations of the general topicality of retrievals and the technique's ability to enhance a multi-strategy bibliographic search. In this article the author report the results of a quanitative analysis of cocited author retrieval performance in the general area of Drosophila genetics, the genetics of fruit flies. Specifically, to examine the effect on recall of first author-only access to the references in source papers indexed in the online program Scisearch.

The article discusses management of women with hereditary gynaecological cancer. Topics discussed include Mendelian conditions known to increase the risk of gynaecological malignancies, clinical utility of low-penetrance susceptibility variants, hereditary breast and ovarian cancer, and genetic testing, preventive and therapeutic options to prognosis cases of these cancers.

Summary Introduction: The glucose-6-phosphate dehydrogenase (G6PD) fluorescent spot test (FST) is a useful screening test for G6PD deficiency, but is unable to detect heterozygote G6PD-deficient females. We sought to identify whether reporting intermediate fluorescence in addition to absent and bright fluorescence on FST would improve identification of mildly deficient female heterozygotes. Methods: A total of 1266 cord blood samples (705 male, 561 female) were screened for G6PD deficiency using FST (in-house method) and a quantitative enzyme assay. Fluorescence intensity of the FST was graded as either absent, intermediate or normal. Samples identified as showing absent or intermediate fluorescence on FST were analysed for the presence of G6PD mutations using TaqMan@SNP genotyping assays and direct nucleotide sequencing. Results: Of the 1266 samples, 87 samples were found to be intermediate or deficient by FST (49 deficient, 38 intermediate). Of the 49 deficient samples, 48 had G6PD enzyme activity of ≤ 9.5 U/g Hb and one sample had normal enzyme activity. All 38 intermediate samples were from females. Of these, 21 had G6PD activity of between 20% and 60%, and 17 samples showed normal G6PD activity. Twenty-seven of the 38 samples were available for mutation analysis of which 13 had normal G6PD activity. Eleven of the 13 samples with normal G6PD activity had identifiable G6PD mutations. Conclusion: Glucose-6-phosphate dehydrogenase heterozygote females cannot be identified by FST if fluorescence is reported as absent or present. Distinguishing samples with intermediate fluorescence from absent and bright fluorescence improves detection of heterozygote females with mild G6PD deficiency. Mutational studies confirmed that 85% of intermediate samples with normal enzyme activity had identifiable G6PD mutations. [ABSTRACT FROM AUTHOR]

In May 2015, my mother was diagnosed with stage IV pancreatic cancer and passed away three months later at the age of 78. Two years later, my older brother, only 53 at the time, was also diagnosed with pancreatic cancer. He passed away 15 months later. With this news, we engaged in the genetic retelling of family histories and connections, drawing genealogical maps on pieces of paper that reminded me of teaching Anthro 101 and starkly reimagined which relatives 'mattered' in our lives. As an anthropologist interested in subject formation and spatiality informed by a Foucauldian analytic, I have been propelled into exploring what it means to become 'high risk' (as a biologically related daughter and sister), subject to new regimes of surveillance and self‐management espoused by the field of precision medicine. This paper addresses this experience and thus contributes to questions of subject formation within the already‐existing truth‐making practices of genetic probability and personalized risk management. [ABSTRACT FROM AUTHOR]

Background: Sleep problems are regularly reported in people with intellectual disabilities. Recent years have seen a substantial increase in studies comparing sleep in people with intellectual disabilities to control participants, with an increase in the use of validated, objective measures. Emerging patterns of differences in sleep time and sleep quality warrant pooled investigation. Methods: A systematic search was conducted across three databases (Ovid Embase, PsycInfo and Medline) and returned all papers comparing sleep in people with intellectual disabilities to a control group, published since the last meta‐analysis on the topic. A quality framework was employed to rate the risk of bias across studies. Separate meta‐analyses of sleep duration and sleep quality were conducted. Subgrouping compared findings for those studies with participants with genetic syndromes or neurodevelopmental conditions and those with heterogeneous intellectual disability. Results: Thirteen new papers were identified and combined with those from the previous meta‐analysis to provide 34 papers in total. Quality of studies was generally rated highly, though sampling provided risk of bias and adaptive functioning was rarely measured. People with intellectual disability associated with genetic syndromes or neurodevelopmental conditions sleep for shorter time periods (standardised mean difference =.26) and experience worse sleep quality (standardised mean difference =.68) than their peers. People with intellectual disability of heterogeneous origin show no difference in sleep time but have poorer sleep quality. There was some evidence that age moderated these effects. Conclusions: People with intellectual disability have poorer sleep than those without. Subtle patterns suggest that aetiology of intellectual disability moderates the topography of these difficulties, with further work needed to differentiate common and distinct mechanisms across groups. [ABSTRACT FROM AUTHOR]

Studies of genetic population structure often involve numerous tests of Hardy–Weinberg equilibrium (HWE), linkage disequilibrium (LD) and genetic differentiation. Tests of HWE or LD are important precursors to population structure assessments. When conducting multiple related statistical tests, type I error increases, e.g., familywise error rate (FWER) inflation. FWER inflation can alter the results of statistical tests and thus the conclusions. We surveyed literature from 2011 to 2013 to determine if studies of population structure assess LD and HWE and if FWER corrections were applied consistently across different types of tests. We found significantly inconsistent FWER corrections, with a bias towards less restrictive correction on genetic differentiation and more restrictive corrections with LD and HWE. While varied adjustments of FWER for different types of analyses might be justified, papers with inconsistent usage across tests of HWE, LD and genetic differentiation did not present rationale for their FWER corrections. We also found a lack of documentation of HWE, LD and FWER corrections in studies. We encourage the authors to report statistical tests and related FWER corrections, use FWER corrections consistently or justify their different methods in the same study. [ABSTRACT FROM AUTHOR]

The advancement and availability of innovative animal biotelemetry and genomic technologies are improving our understanding of how the movements of individuals influence gene flow within and between populations and ultimately drive evolutionary and ecological processes. There is a growing body of work that is integrating what were once disparate fields of biology, and here, we reviewed the published literature up until January 2023 (139 papers) to better understand the drivers of this research and how it is improving our knowledge of animal biology. The review showed that the predominant drivers for this research were as follows: (1) understanding how individual‐based movements affect animal populations, (2) analyzing the relationship between genetic relatedness and social structuring, and (3) studying how the landscape affects the flow of genes, and how this is impacted by environmental change. However, there was a divergence between taxa as to the most prevalent research aim and the methodologies applied. We also found that after 2010 there was an increase in studies that integrated the two data types using innovative statistical techniques instead of analyzing the data independently using traditional statistics from the respective fields. This new approach greatly improved our understanding of the link between the individual, the population, and the environment and is being used to better conserve and manage species. We discuss the challenges and limitations, as well as the potential for growth and diversification of this research approach. The paper provides a guide for researchers who wish to consider applying these disparate disciplines and advance the field. [ABSTRACT FROM AUTHOR]

The article reports on developments related to veterinary medicine in Great Britain. The knowledge of the associations between the prion protein genotype of sheep and their risk of clinical scrapie has been used to develop genotyping and breeding programs that aim to eradicate the disease. According to a questionnaire survey concerning parasite management, the sheep farmers use variety of strategies based on information from the farming press, agricultural merchants and veterinary surgeons.

Presents abstracts of articles about immunogenetics presented at the 15th Conference of the British Society for Histocompatibility and Immunogenetics in Dublin, Ireland on October 13-15, 2004. Range of topics; Classifications and categories; Names of auithors; Contact information.

Internationally, there is considerable inconsistency in the recognition and regulation of children's genetic connections outside the family. In the context of gamete and embryo donation, challenges for regulation seem endless. In this paper, I review some of the paths that have been taken to manage children' being closely genetically related to people outside their families. I do so against the background of recognising the importance of children's interests as moral status holders. I look at recent qualitative research involving donor‐conceived people and borrow their own words to make sense of a purported interest to know (of) their close genetic ties. I also review ways in which gamete donation may have facilitated new kinds of kinship, which are at the same time genetic and chosen. In short, in this paper, I explore what meaning there could be in genetic connections that is not about parenthood. Further, I argue that the focus on parenthood in previous work in this area may be detrimental to appreciating some of the goods that can be derived from close genetic connections. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented in response to a comment on an article dealing with mammalian paramutation is presented.

Genetic relatedness figures heavily in contemporary ethical debates on egg freezing, although the arguments lack empirical‐based evidence. Rather than adding another theoretical view on the moral relevance of genetic connections, this paper instead proposes an empirically grounded perspective based on two independent qualitative interview‐based studies conducted in Belgium and France. Three themes emerge from our empirical data: (1) prioritizing family building; (2) centering the gestational experience of motherhood; and (3) identifying the complexities and limitations of adoption. These themes suggest that the relationship between egg freezing, genetics, biological motherhood, and adoption is highly complex and less straightforward than what is often assumed in the egg freezing debate. Our study provides more detailed insights into women's ambivalent experiences regarding those reproductive options. We discuss the ethical implications of our empirical findings and hold that pursuing genetic desire is not necessarily the main moral reason why women freeze their eggs. [ABSTRACT FROM AUTHOR]

A detailed analysis of MYCOLIT, a comprehensive bibliographic database of mycorrhizal research containing almost 12000 references, showed some interesting trends over the past 40yr. During the last four decades, the average number of papers published per year were 84, 110, 214 and 488, respectively. The current rate of publication is about 700 papers per year. Much research has focused on nutrient dynamics, inoculum production, mycorrhiza formation, and morphology and physiology of both vesicular-arbuscular mycorrhizas (VAM) and ectomycorrhizas (EM). There has been a shift of attention from Em to VAM since 1970. Very little work has been done on the other kinds of mycorrhizas. Barriers to progress in some areas, such as our inability to grow the Glomales in axenic culture, have stimulated a large number of methodological papers over the past decade, while the genetics and molecular biology, especially of VAM, have been neglected. Ecological studies were more numerous than any other kind. However, there was a bias towards laboratory studies as opposed to field studies. Within field studies, researchers focused on agricultural ecosystems, while neglecting disturbed and especially natural systems. This analysis also suggests that we may know less than we think about mycorrhizas, since we have consistently base broad hypotheses and conclusions on studies of a small number of taxa. Future research should be directed towards correcting the various imbalances revealed by this analysis. [ABSTRACT FROM AUTHOR]

Recent developments in genomic technology, especially those enabling gene editing, promise to put an end to hitherto intractable medical problems and to usher us into the age of personalized medicine. These technologies, however, raise a number of serious ethical challenges. Given the global impact of this technology, recent international regulations emphasize the need for intercultural dialogue on these ethical issues. This paper concentrates on Islamic perspectives on human genetic modification. It examines Islamic juristic discourses on the issue of genetic modification and highlights the different layers within these discourses. The paper identifies the main positions regarding human genetic modification along with the underlying arguments for each of them. In general, these positions are articulated in light of the nature as well as the intended objectives of the different procedures. The paper devotes special attention to the treatment‐enhancement distinction and argues that within Islamic discourses this distinction is quite nuanced. The paper points out important substantive and methodological gaps and emphasizes the evolving nature of Islamic discourses on this issue. [ABSTRACT FROM AUTHOR]

This paper uses zone electrophoresis, one of the most frequently used tools in molecular biology, to explore two ideas derived from Hans-Jörg Rheinberger's reflections on experiments. First, the constraining role played by technical objects--instrumentation and material conditions--in the production of knowledge or epistemic things. Second, the production of interconnected experimental systems by such technical objects, which results in the unexpected entanglement of research fields and experimental cultures. By the beginning of the 1960s, the inception of zone electrophoresis in laboratories around the world transformed--some say, revolutionized--the study of proteins. Even today, electrophoresis continues to open research venues and questions in biomedicine, molecular biology, human genetics, and in the field of molecular evolution. In my essay, I seek to look at the interconnected lives of zone electrophoresis and address the broader social, and even global context, in which this apparently humble technique became a salient tool in the production of biological knowledge. In so doing, I aim to take the past and present of the history and historiography of experimental systems to the future, where experiments and technologies are interrogated as they are used in different geographies and contexts, including contexts of poverty. [ABSTRACT FROM AUTHOR]

The article presents a list of forthcoming papers on immunology. Some of the papers include Cross-Linking of Neutrophil CD11b Results in Rapid Cell Surface Expression of Molecules Required for Antigen Presentation and T-Cell Activation," "Various Members of the Toll-Like Receptor Family Contribute to the Innate Immune Response of Human Epidermal Keratinocytes," "Identification and Characterisation of a Functional, Alternatively Spliced TLR7 and Genomic Disruption of TLR8 in Chickens," and "Introduction of Human Papillomavirus Type 16-Specific Immunologic Responses in a Normal and an HPV Infected Populations."

This paper uses policy‐induced variation in legal access to alcohol in the United States to explore interactions between genetic predispositions and health behaviors. It is well known that Minimum Legal Drinking Age (MLDA) laws have discrete impacts on binge drinking behaviors, but less is known about heterogeneity of the effects and the characteristics of individuals most and least affected. Using the Add Health data, this paper explores differential policy effects based on polygenic scores (PGS), which are genome‐wide summary measures predicting health outcomes. Specifically, we leverage PGS for alcoholism and for a broader set of risk‐taking behaviors to explore heterogeneities in response to the policy and consider mechanisms for the responses. Like previous literature using the Add Health and other datasets, we find main effects of MLDA in increasing recent binge drinking episodes by approximately 5 percentage points. We find MLDA effects are concentrated entirely in individuals with high PGS for alcohol use. We are also able to compare these results with measures of parental alcoholism as a global proxy for family history. [ABSTRACT FROM AUTHOR]

Since Washburn's New Physical Anthropology, researchers have sought to understand the complexities of morphological evolution among anatomical regions in human and non‐human primates. Researchers continue, however, to preferentially use comparative and functional approaches to examine complex traits, but these methods cannot address questions about evolutionary process and often conflate function with fitness. Moreover, researchers also tend to examine anatomical elements in isolation, which implicitly assumes independent evolution among different body regions. In this paper, we argue that questions asked in primate evolution are best examined using multiple anatomical regions subjected to model‐bound methods built from an understanding of evolutionary quantitative genetics. A nascent but expanding number of studies over the last two decades use this approach, examining morphological integration, evolvability, and selection modeling. To help readers learn how to use these methods, we review fundamentals of evolutionary processes within a quantitative genetic framework, explore the importance of neutral evolutionary theory, and explain the basics of evolutionary quantitative genetics, namely the calculation of evolutionary potential for multiple traits in response to selection. Leveraging these methods, we demonstrate their use to understand non‐independence in possible evolutionary responses across the limbs, limb girdles, and basicranium of humans. Our results show that model‐bound quantitative genetic methods can reveal unexpected genetic covariances among traits that create a novel but measurable understanding of evolutionary complexity among multiple traits. We advocate for evolutionary quantitative genetic methods to be a standard whenever appropriate to keep studies of primate morphological evolution relevant for the next seventy years and beyond. [ABSTRACT FROM AUTHOR]

These papers cover established and emerging viral tools for functional genomics in maize, a genomic study of maize resistance genes, and the identification and detailed characterization of maize genes involved in pathogen resistance and microbial genes involved in pathogenicity. The first identification of a plant disease resistance gene, I Hm1 i (Johal & Briggs, [12]), and of a plant disease susceptibility gene, I T-urf13 i (Dewey et al., [7]), occurred in maize. Thatcher, Jung et al. ([35], this issue) took advantage of the recent availability of a set of diverse maize genome sequences to characterize the diversity of NLR genes in maize as well as the maize relative I Zea luxurians i . Maize ( I Zea mays i ) is an annual grass belonging to the tribe Andropogoneae of the family Gramineae. [Extracted from the article]

Summary:Transcription factors containing a conserved DNA-binding domain similar to that of the proto-oncogenec-mybhave been identified in nearly all eukaryotes. MYB-related proteins from plants generally contain two related helix-turn-helix motifs, the R2 and R3 repeats. It was estimated thatArabidopsis thalianacontains more than 100R2R3-MYBgenes. The few cases where functional data are available suggest an important role of these genes in the regulation of secondary metabolism, the control of cell shape, disease resistance, and hormone responses. To determine the full regulatory potential of this large family of regulatory genes, a systematic search for the function of all genes of this family was initiated.Sequence data for more than 90 differentA. thaliana R2R3-MYBgenes have been obtained. Sequence comparison revealed conserved amino acid motifs shared by subgroups ofR2R3-MYBgenes in addition to the characteristic DNA-binding domain. No significant clustering of the genes was detected, although they are not uniformly distributed throughout theA. thalianagenome.R2R3-MYBgene expression levels were determined under more than 20 different growth conditions including hormone treatment, infection with pathogens and various stress conditions.MYBgenes are specifically expressed in different tissues and physiological conditions, indicating the potential for involvement in various regulatory processes. The sequence and expression data together with the map positions of nearly allMYBgenes inA. thalianaprovide a substantial basis for further studies of this important group of transcription factors.. [ABSTRACT FROM AUTHOR]

Abstract: After the inaugural Pan‐American‐Evo‐Devo meeting (2015, Berkeley), I showed how major concerns about evo‐devo (Evolutionary Developmental Biology) research were demonstrated by a simple, non‐biased quantitative analysis of the titles/abstracts of that meeting's talks. Here, I apply the same methodology to the titles/abstracts of the recent Pan‐American‐Evo‐Devo meeting (2017, Calgary). The aim is to evaluate if the concerns raised by me in that paper and by other authors have been addressed and/or if there are other types of differences between the two meetings that may reflect trends within the field of evo‐devo. This analysis shows that the proportion of presentations referring to “morphology”, “organism”, “selection”, “adaptive”, “phylogeny”, and their derivatives was higher in the 2017 meeting, which therefore had a more “organismal” feel. However, there was a decrease in the use of “evolution”/its derivatives and of macroevolutionary terms related to the tempo and mode of evolution in the 2017 meeting. Moreover, the disproportionately high use of genetic/genomic terms clearly shows that evo‐devo continues to be mainly focused on devo, and particularly on “Geno”, that is, on molecular/genetic studies. Furthermore, the vast majority of animal evo‐devo studies are focused only on hard tissues, which are just a small fraction of the whole organism—for example, only 15% of the tissue mass of the human body. The lack of an integrative approach is also evidenced by the lack of studies addressing conceptual/long‐standing broader questions, including the links between ecology and particularly behavior and developmental/evolutionary variability and between evo‐devo and evolutionary medicine. [ABSTRACT FROM AUTHOR]

Even modest improvements in the probability of success of selecting drug targets which are ultimately approved can substantially reduce the costs of research and development. Drug targets with human genetic evidence of disease association are twice as likely to lead to approved drugs. A key enabler of identifying and validating these genetically validated targets is access to association results from genome‐wide genotyping, whole‐exome sequencing, and whole‐genome sequencing studies with observable traits (often diseases) across large numbers of individuals. Today, linkage between genotype and real‐world data (RWD) provides significant opportunities to not only increase the statistical power of genome‐wide association studies by ascertaining additional cases for diseases of interest, but also to improve diversity and coverage of association studies across the disease phenome. As RWD‐genetics linked resources continue to grow in diversity of participants, breadth of data captured, length of observation, and number of participants, there is a greater need to leverage the experience of RWD experts, clinicians, and highly experienced geneticists together to understand which lessons and frameworks from general research using RWD sources are relevant to improve genetics‐driven drug discovery and development. This paper describes new challenges and opportunities for phenotypes enabled by diverse RWD sources, considerations in the use of RWD phenotypes for disease gene identification across the disease phenome, and challenges and opportunities in leveraging RWD phenotypes in target validation. The paper concludes with views on the future directions for phenotype development using RWD, and key questions requiring further research and development to advance this nascent field. [ABSTRACT FROM AUTHOR]