bluuebunny/crossref_metadata_2025_split huggingface dataset:
Deletion analysis of male sterility effects oft–haplotypes in the mouse
Authors: Bennett Dorothea , Artzt Karen 
Published: September 2009

SummaryWe present data on the effects of three chromosome 17 deletions on transmission ratio distortion (TRD) and sterility of severalt-haplotypes. All three deletions have similar effects on male TRD: that is,Tdel/tcompletegenotypes all transmit theirt–haplotype in very high proportion. However, each deletion has different effects on sterility of heterozygous males, withTor/tbeing fertile,Thp/tless fertile, andTorl/tstill less fertile. These data suggest that wild-type genes on chromosomes homologous to f-haplotypes can be important regulators of both TRD and fertility in males, and that the wild-type genes concerned with TRD and fertility are at least to some extent different. The data also provide a rough map of the positions of these genes.
Inheritance of T-associated sex reversal in mice
Authors: Washburn Linda L. , Lee Barbara K. , Eicher Eva M. 
Published: September 2009

SummaryWe previously identified a primary sex-determining locus,Tas, on mouse Chr 17 that causes ovarian tissue development in C57BL/6JThp/ + andTorl/ + individuals if the AKR/J Y chromosome is present. We hypothesized thatTasis located within the region of Chr 17 deleted byThpandTorland that C57BL/6J carries a diagnosticTasallele, based on the observation that ovarian tissue develops in XY mice whenThpis on a C57BL/6J inbred strain background, whereas normal testicular development occurs whenThpis on a C3H/HeSnJ inbred strain background. To test this hypothesis, we mated (C57BL/6J × C3H/HeSnJ)F1 females to C57BL/6JThp/ + hermaphrodites. As expected, half of the XYThp/+ offspring developed ovarian and testicular tissue while half developed exclusively testicular tissue. Unexpectedly, the inheritance of selected Chr 17 molecular loci was independent of gonadal development, as half of the male and hermaphroditic offspring inherited C3H/HeSnJ-derived Chr 17 loci and half inherited C57BL/6J-derived Chr 17 loci. We conclude that for ovarian tissue to develop in an XYThp/ + or XYTort/ + individual (1)Tasmust be present in a hemizygous state, which is accomplished by heterozygosity for theThporTortdeletions; (2) the AKR/J-derived Y chromosome must be present; and (3) an additional locus involved in primary sex determination must be present in a homozygous C57BL/6J state. This newly identified gene may be one of the previously defined loci,tda-1ortda-2.
Yeast artificial chromosomes: an alternative approach to the molecular analysis of mouse developmental mutations
Authors: Larin Zoia , Lehrach Hans 
Published: September 2009

SummaryMammalian genetics now allows a molecular study of genomic regions previously analysed by genetic and embryological techniques. To simplify such an analysis, we have established a number of libraries of mouse DNA in Yeast Artificial Chromosome (YAC) vectors, constructed either by partial digestion with EcoRI, or by complete digestion with enzymes which cut rarely in the mammalian genome. In this paper we report the construction of complete digest libraries prepared from mouse genomic DNA using the rare cutter enzymes NoiI and BssHII, and the detection of gene loci from the H-2 complex, the t–complex, and other loci from the mouse genome. Due to their large insert size, YAC clones simplify the cloning of extended regions of the mouse genome surrounding known developmental mutations and should, after introduction into the germ line, offer a high probability of correct expression of the genes contained within the cloned region. We hope that this will allow the use of YAC clones to scan regions of interest such as the t–complex for specific genes by testing DNA introduced into transgenic mice for the ability to complement mutations localised to this region.
Use of triple tissue blastocyst reconstitution to study the development of diploid parthenogenetic primitive ectoderm in combination with fertilization-derived trophectoderm and primitive endoderm
Authors: Gardner R. L. , Barton S. C. , Surani M. A. H. 
Published: September 2009

SummaryDiploid mouse conceptuses lacking a paternal genome can form morphologically normal but small fetuses of up to 25 somites, but they invariably fail to develop beyond mid-gestation. Such conceptuses differ from normal most notably in the poor development of extra-embryonic tissues which are largely of trophectodermal and primitive endodermal origin. However, it is not clear whether the demise of diploid parthenogenetic (P) or gynogenetic (G) conceptuses is attributable entirely to the defective development of these two tissues or whether differentiation of the primitive ectoderm, the precursor of the foetus, extra-embryonic mesoderm and amnion, is also impaired by the absence of a paternal genome. Therefore, a new blastocyst reconstitution technique was used which enabled primitive ectoderm from P blastocysts to be combined with primitive endoderm and trophectoderm from fertilization-derived (F) blastocysts. One third of the ‘triple tissue’ reconstituted blastocysts that implanted yielded foetuses. However, all foetuses recovered on the llth or 12th day of gestation were small and, with one exception, either obviously retarded or arrested in development. The exception was a living 44 somite specimen which is the most advanced P foetus yet recorded. Foetuses were invariably degenerating in conceptuses recovered on the 13th day. In contrast, at least 16% of control reconstituted blastocysts with primitive ectoderm as well as primitive endoderm and trophectoderm of F origin developed normally on the 13th day of gestation or to term. Hence, the presence of a paternal genome seems to be essential for normal differentiation of all 3 primary tissues of the mouse blastocyst.The P foetuses that developed from reconstituted blastocysts were so closely invested by their membranes that they often showed abnormal flexure of the posterior region of the body. Several also showed a deficiency of allantoic tissue. Therefore, the possibility that the defect in development of P primitive ectoderms resided in their extra-embryonic tissues was investigated by analysing a series of chimaeras produced by injecting them into intact F blastocysts. The foregoing anomalies were not discernible even when P cells made a large contribution to the extra-embryonic mesoderm or amnion plus umbilical cord. Furthermore, selection against P cells was no greater in extra-embryonic derivatives of the primitive ectoderm than in the foetus itself.
Death of mouse embryos that lack a functional gene for glucose phosphate isomerase
Authors: West John D. , Flockhart Jean H. , Peters Josephine , Ball Simon T. 
Published: September 2009

SummaryA null allele of theGpi-1sstructural gene, that encodes glucose phosphate isomerase (GPI-1;E.C.5.3.1.9), arose in a mutation experiment and was designatedGpi-1sa-m1H. The viability of homozygotes has been investigated. No offspring homozygous for the null allele were produced by intercrossing two heterozygotes, so the homozygous condition was presumed to be embryonic lethal. Embryos were produced by crossingGpi-1sa/null heterozygous females andGpi-1sb/null heterozygous males. Homozygous null embryos were identified at different stages of development by electrophoresis and staining either for GPI-1 alone or GPI-1 plus phosphoglycerate kinase (PGK) activity. At 6½ and 7½ dayspost coitumhomozygous null embryos were present at approximately the expected 25% frequency (37/165; 22·4% overall) although at 7½ days the homozygous null embryos tended to be small. By 8½ days most homozygous null embryos were developmentally retarded and had not developed significantly further than at 7½ days; some were dead or dying. By 9½ days the homozygous null conceptus was characterised by a small implantation site that contained trophoblast and often a small amount of extraembryonic membrane. Surviving trophoblast tissue was also detectable at 10½ days. Previous studies have shown that oocyte-coded GPI-1 persists only until 5½ or 6½ days. Survival of homozygous null embryos to 7½ or 8½ days and survival of certain extraembryonic tissue to 10½ days suggests that the homozygous null condition may not be cell-lethal although it is certainly embryo-lethal. Mutant cells that are deficient in glycolysis may use the pentose phosphate shunt to bypass the block in glycolysis created by the deficiency of glucose phosphate isomerase, and/or might be rescued by the transport, from the maternal blood, of energy sources other than glucose (such as glutamine). Either strategy may only permit slow cell growth that would not be adequate to support normal embryogenesis. Transport of maternal nutrients would be more efficient to the trophoblast and extraembryonic membranes and this may help to explain why these tissues survive for longer than the embryo itself. The morphological similarity between homozygous nulls and androgenetic conceptuses, where the trophoblast also survives better than the embryo, is discussed.
Genome imprinting phenomena on mouse chromosome 7
Authors: Searle Antony G. , Beechey Colin V. 
Published: September 2009

SummaryHeterozygotes for the reciprocal translocation T(7;15)9H were intercrossed, with albino (c) and underwhite (uw) as genetic markers, in order to study genetic complementation in mouse chromosome 7. Chromosome 15 is known to show normal complementation. Neither reciprocal cross in which one parent wasc/cand the other wild type yielded albino progeny at birth although about 17% would be expected, but albino foetuses were recovered when the mother wasc/cand father wild type. These products of maternal duplication/paternal deficiency for distal 7 were markedly retarded with small placentae. No albino foetuses were found when the father wasc/cand mother wild type, which suggested earlier lethality. Equivalent crosses withuw(chromosome 15) as proximal marker gave normal underwhite progeny when the mother wasuw/uwbut small placentae, retardation and neonatal death of presumptive underwhites in the reciprocal cross. These abnormal newborn would have had a maternal duplication/paternal deficiency for proximal 7. These and other findings indicate that one region of defective complementation probably lies distal to the breakpoint of T(7;18)50H at 7E2-F2, while another is between the centromere and 7B3. Examination of man-mouse homologies suggests that the loci for three pathological human conditions (Beckwith-Weidemann syndrome, dystrophia myotonia and rhabdomyosarcoma) with differential parental transmission may be located in homologous regions to those affected by imprinting phenomena on mouse chromosome 7.
Parental influences on expression of glucose-6-phosphate dehydrogenase,G6pd, in the mouse; a case of imprinting
Authors: Peters J. , Ball S. T. 
Published: September 2009

SummaryGlucose-6-phosphate dehydrogenase (G6PD) activity was measured in blood from heterozygotes for the normal alleleG6pdaand the low activity alleleG6pda-m l Neu. In adult mice lower activity was found inG6pda/G6pda-m l Neuthan in the reciprocal heterozygoteG6pda-m l Neu/G6pda(the maternal allele being listed first). Thus, either the paternally derived allele was over-expressed or the maternally derived allele was under-expressed. By contrast, in younger mice the difference in G6PD activity in reciprocal crosses was less marked. The findings are interpreted in terms of differential imprinting of maternally and paternally inherited information. The explanation offered for age related differences is that, as a consequence of imprinting, either the paternal X-chromosome is preferentially reactivated, or cells in which the paternally derived allele is active are at a selective advantage, and proliferate better than those in which the maternally inherited allele is active.
Effects of sodium butyrate on X-Ray and bleomycin-induced chromosome aberrations in human peripheral blood lymphocytes
Authors: Sankaranarayanan K. , Duyn A. v. , Loos M. J. , Meschini R. , Natarajan A. T. 
Published: September 2009

SummaryPeripheral blood lymphocytes from normal human volunteers or from Down syndrome patients were pre-treated with sodium butyrate (a compound which is known to induce structural modifications in the chromatin through hyperacetylation of nucleosomal core histones) and exposed to X-irradiation or treated with bleomycin in vitro in the G0and/or G1stage(s) of the cell cycle. The frequencies of chromosomal aberrations in the first mitosis after treatment were scored.The results show an enhancement in the yield of aberrations in the butyrate pre-treated groups. However, the absolute frequencies of chromosomal aberrations as well as the relative increases with butyrate pre-treatment varied between blood samples from different donors suggesting the existence of inter-individual variations. There is a parallelism between the effects of X-irradiation or of combined treatments in G0and G1stages and between effects observed in the X-ray and bleomycin series. The increase in the yields of chromosomal aberrations in butyrate-treated and X-irradiated lymphocytes (relative to those which received X-irradiation alone) is interpreted as a consequence of the inhibition of repair of DNA damage by butyrate.
MATE CHOICE IN OLIVENZA: INFLUENCE OF BORDER CHANGE ON SPANISH–PORTUGUESE LINEAGES
Authors: ROMÁN-BUSTO JORGE , FUSTER VICENTE , COLANTONIO SONIA , ZULUAGA PILAR , BLANCO MARÍA JOSÉ , GUARDADO-MOREIRA MARIA JOAO 
Published: September 2009

SummaryThe mating pattern in a population determines the next generation gene pool and therefore its genetic structure. Besides socio-cultural and geographic factors, political barriers may influence the formation of couples. The present paper studies how the change of national border affected the mating pattern of Olivenza in Badajoz Province (Spain), which experienced a change of domain from Portugal to Spain in 1801. For the period analysed (1750–1850), 954 Catholic marriage records were transcribed. Data were sorted by decades in order to make a temporal study possible and analysed by means of diversity and repeated-pairs of surnames. Following the change of border the mating pattern modified. Coinciding with a larger number of mixed marriages with Spaniards, there was a progressive rise in the diversity of surnames. From 1811 to 1820 the analysis of repeated-pairs of surnames indicates the existence of preferential matings within Spanish and Portuguese lineages. After 1821 the above pattern became less clear due to the disappearance of the Spanish–Portuguese restrictions on choice of mate.
Highly efficient, easily spectrally tunable X-ray backlighting for the study of extreme matter states
Authors: Loupias B. , Perez F. , Benuzzi-Mounaix A. , Ozaki N. , Rabec M. , Gloahec L.E. , Pikuz T.A. , Faenov A.Ya. , Aglitskiy Y. , Koenig M. 
Published: September 2009

AbstractAn improved high luminosity, easily spectrally tunable backlighting scheme based on a spherically bent crystal is considered in this paper. Contrary to the traditional backlighting scheme, we used crystal far from normal incidence, and the backlighter source was inside the Rowland circle. With the presented configuration, we obtained a spatial resolution up to 8 µm in the desired direction with an X-ray backlighting energy close to 5 keV. Detailed discussions and ray-tracing calculations show that with this convenient scheme resolution down to 5 µm can be achieved. A dedicated application to high energy density physics is presented: the radiography of shock compressed matter.
Faecal incontinence in older people
Authors: Harari Danielle 
Published: September 2009

SummaryFaecal incontinence in older people is a distressing and socially isolating symptom and increases the risk of morbidity, mortality and dependency. Many older individuals with faecal incontinence will not volunteer the problem to their general practitioner or nurse and, regrettably, health care providers do not routinely enquire about the symptom. Even when older people are noted by health care professionals to have faecal incontinence, the condition is often managed passively, especially in the long-term care setting where it is most prevalent. The importance of identifying treatable causes of faecal incontinence in older people, rather than just managing passively, is strongly emphasized in national and international guidance, but audit shows that adherence to such guidance is generally poor. This article describes epidemiology, causes, assessment, diagnosis and treatment of faecal incontinence in older people.
Older people and major trauma
Authors: Cole Elaine , Lynch Antonia , Bridges Jackie , West Anita 
Published: September 2009

SummaryMajor traumatic injury is a leading cause of death in younger age groups, but increasingly older people are affected also. Adverse outcomes, both physical and psychological, are associated with injury in the older population. This review aims to locate and describe the evidence relating to older people and major trauma in order to inform policy, practice, research and education. The published research and systematic reviews fall into three main topics: mechanism of traumatic injury in older people, the effects of co-morbidities on older trauma patients and outcomes following serious traumatic injury in older people. The psychological impact of traumatic injury and the resulting functional alteration cannot be underestimated in this group of patients.
Symptom complaints following combat-related traumatic brain injury: Relationship to traumatic brain injury severity and posttraumatic stress disorder
Authors: BELANGER HEATHER G. , KRETZMER TRACY , VANDERPLOEG RODNEY D. , FRENCH LOUIS M. 
Published: September 2009

AbstractPatients with a history of mild (n= 134) or moderate-to-severe (n= 91) TBI were asked to complete the Neurobehavioral Symptom Inventory (NSI) and the Posttraumatic Stress Disorder Checklist. Consistent with prior research, significantly more postconcussion symptoms were endorsed by the mild group. After controlling for age, time since injury, and mechanism of injury, TBI severity continued to be significantly related to postconcussion complaints on the NSI. However, after controlling for these same variables, along with posttraumatic stress disorder symptom severity, there no longer were differences between the TBI severity groups. That is, patients with mild TBI did not endorse significantly more complaints (adjusted mean = 22.4) than the moderate-to-severe group (adjusted mean = 21.8). These findings suggest that much of the symptom complaints in mildly injured patients may be due to emotional distress. (JINS, 2010,16, 194–199.)
Validity of the Bouchard activity diary in Spanish adolescents
Authors: Martínez-Gómez David , Wärnberg Julia , Welk Gregory J , Sjöström Michael , Veiga Oscar L , Marcos Ascension 
Published: September 2009

AbstractObjectiveValid and simple instruments to assess physical activity (PA) in specific populations are required for health-related research. The aim of the present study was to assess the validity of the Bouchard activity diary (AD) in Spanish adolescents using an activity monitor to compare total PA and moderate-to-vigorous PA (MVPA) obtained by both instruments.DesignSixty-one Spanish adolescents, aged 12–16 years, completed the Bouchard AD and wore the ActiGraph activity monitor for three consecutive days. Validity was assessed with the Spearman correlation coefficient (ρ), the Bland–Altman method and the κ coefficient.ResultsThirty-seven adolescents were included in the final analysis. Correlations between the activity monitor and the AD administered over the three days (Thursday–Saturday) were moderate (ρ = 0·33–0·35, P < 0·05) or non-significant for total PA and moderate (ρ = 0·36, P < 0·05) for MVPA. Correlations between the two methods were progressively lower for each subsequent day of testing, for both total PA and MVPA. The Bland–Altman plot illustrated that the Bouchard AD overestimated MVPA (mean difference −32·05 (sd 74·56) min; 95 % limits of agreement 109·61, −173·31 min). Agreements for classification into MVPA tertiles and accordance with the international recommendations of MVPA were fair and moderate, respectively, for the 3 d means.ConclusionsThe Bouchard AD has reasonable validity to assess total PA and MVPA in Spanish adolescents. The results show lower levels of agreement on the third day but it is not clear if this is due to design features (weekday v. weekend) or to participant compliance with the survey or the activity monitoring protocol.
The special safeguard fiasco in the WTO: the perils of inadequate analysis and negotiation
Authors: WOLFE ROBERT 
Published: September 2009

AbstractThe July 2008 attempt by a group of ministers to agree on modalities for the WTO's Doha Round broke down in part because they could not agree on a proposed ‘Special Safeguard Mechanism’ (SSM) for developing countries in agriculture. This paper offers a corrective to the conventional story that the breakdown was due to a simple conflict of interests over the SSM between the United States and India. The term SSM was first used in a Doha Round text in 2004, but neither the principles nor the commercial implications had ever been discussed by ministers before July 2008. The conceptual origins of the SSM go back to proposals in the late 1990s for a ‘Development Box’, but by the time of the ministerial, negotiators had been unable to agree on the purpose of the safeguard, or how it would work, including the agricultural products it would cover, how it would be triggered, the remedies (additional tariffs) allowed, or the transparency requirements for its operation. The SSM was therefore one of the least ‘stabilized’ parts of the text placed before ministers in July 2008. Members were far from reaching a consensual understanding of the SSM, which resulted in a fiasco that might have been avoided. Ministers should not have been asked to engage in a poorly prepared discussion of a sensitive issue, because inevitably they staked out incompatible positions. Members may subsequently find it difficult to back down.
Assessing Stream Ecosystem Condition in the United States
Authors: Faustini John M. , Kaufmann Philip R. , Herlihy Alan T. , Paulsen Steven G. 
Published: September 2009

When the U.S. Congress passed the Federal Water Pollution Control Act in 1972, later amended by the Clean Water Act (CWA) of 1977, it tasked the newly created U.S. Environmental Protection Agency (EPA), in cooperation with the states, with periodically assessing the quality of U.S. waters and reporting on progress toward meeting the goals of the CWA. In subsequent decades, reviews by various governmental and nongovernmental organizations consistently have found available water quality data and reporting to be inadequate to evaluate the nation's progress [Shapiro et al., 2008]. In response to these concerns, in 1989 EPA's Office of Research and Development initiated the Environmental Monitoring and Assessment Program (EMAP) to develop and demonstrate scientific tools to monitor the status of, and trends in, U.S. aquatic resources and environmental stressors affecting them.Recent EPA‐led efforts involve monitoring wadeable perennial streams (streams or rivers shallow enough to be wadeable during seasonal low flows), which make up an estimated 90% of the total length of all perennial flowing waters in the United States [EPA, 2006]. Selected results from the first national survey of these streams, the national Wadeable Streams Assessment (WSA) [EPA, 2006; Paulsen et al., 2008], illustrate how such surveys can provide critical information to guide management of this important resource. Nonmonitoring applications of data from the WSA and earlier regional surveys show the wide‐ranging applicability of these rich data sets.