bluuebunny/crossref_metadata_2025 huggingface dataset:
Aged care nursing in Queensland – the nurses’ view
Authors: Eley Robert , Hegney Desley , Buikstra Elizabeth , Fallon Tony , Plank Ashley , Parker Victoria
Published: May 2007

Aims and objectives.  Through comparison of two studies undertaken three years apart the opinions of nurses working in aged care facilities in Queensland were determined. Results will support policy planning for the Queensland Nurses Union.

Background.  An ageing population in Australia is placing increased demands on residential aged care facilities. In Queensland, the national situation is exacerbated by an influx of retirees from other states and territories. The ongoing problem of shortages of nurses in the workforce may be addressed by gaining further insight into the nurses’ own views of their conditions and experiences.

Methods.  One thousand nurses working in public and privately owned residential aged care facilities were surveyed by postal questionnaire in 2004. Results were compared with data collected in an identical study in 2001.

Results.  Respondents offered their opinions on working hours and conditions, professional development and experiences in nursing. The predominately female aged care nursing workforce is ageing. Reported workplace violence has increased substantially since 2001. Some improvements are reported in staff numbers, skill mix and workplace policies. Nurses expressed very serious concerns about pay, workload, stress, physical and emotional demands and staff morale.

Conclusion.  Working conditions for nurses in the residential aged care sector in Queensland must be addressed to retain the current nurses and to encourage new nurses to replace those that retire.

Relevance to clinical practice.  The findings of this study provide information not only for the Queensland Nurses Union but also policy makers and nurse managers both nationally and internationally on areas that need to be addressed to maintain the required workforce within the aged care sector.
Maintaining the integrity of older patients in long‐term institutions: relatives’ perceptions
Authors: Teeri Sari , Välimäki Maritta , Katajisto Jouko , Leino‐Kilpi Helena
Published: May 2007

Aim.  To study relatives’ views on how the integrity of older patients is maintained in long‐term institutions in Finland.

Background.  Maintaining patient integrity is considered a key prerequisite for good quality care and treatment and a characteristic of ethical care. Institutionalization, dependence on others and vulnerability may all threaten the integrity of the older patient and, in this sense, pose ethical problems.

Design/methods.  The data for this descriptive and explorative survey were collected by questionnaires from 213 relatives of older patients in four long‐term institutions in Finland. The response rate was 78%. Data were analysed using statistical methods.

Results.  Relatives rated the maintenance of patient integrity quite highly. The highest ratings were recorded for the maintenance of physical integrity and the lowest to the maintenance of psychological integrity. The main source of problems were patients’ and/or relatives’ wishes concerning elimination. There were also shortcomings in the provision of intimacy. Relatives who thought that admission to the long‐term institution had been problematic, either for the patient or for themselves, felt that patient integrity was poorly maintained.

Conclusion.  The findings highlight the importance of nurses’ efforts in long‐term care facilities to preserve the integrity of patients and to maintain close contact and cooperation with relatives. Although relatives generally were quite pleased with how patient integrity was maintained, the results also provide evidence on problems that may threaten patient integrity.

Relevance to clinical practice.  Greater emphasis should be placed on the need for cooperation between older patients, their relatives and nursing staff, especially before admission to long‐term care. Furthermore, increased efforts are needed in maintaining the integrity of older patients and in reducing ethically problematic situations.
Changing needs of Chinese family caregivers of stroke survivors
Authors: Mak Annie KM , Mackenzie Ann , Lui May HL
Published: May 2007

Aim.  To examine the changing needs of Chinese family caregivers before and after stroke survivors’ discharge from hospital.

Background.  Stroke ranks third as the most common cause of death in Hong Kong and is the leading cause of adult disability. Community care has been adopted as the major source of care for older people in Hong Kong and this has impacted on family caregivers.

Design and methods.  This is a descriptive‐correlational design using a within‐subjects design. The needs of 40 Chinese family caregivers who met the inclusion criteria were assessed before discharge and two weeks later using the Carer Assessment Scale, Cost of Care Index and one open‐ended question. Modified Barthel Index measured the functional ability of stroke survivors.

Results.  Family caregivers are able to anticipate most of their needs and to make provision to meet the basic practical needs before discharge. Although needs changed after discharge the four most important needs persisted. These were associated with emotional and psychological problems and financial difficulties. Discharge destinations made no difference to the total scores obtained using the above scales.

Conclusions.  This study provides information about need at a time of transition in an under‐researched population of Chinese caregivers. Assessment of need is important with Chinese family carers in order to identify focused interventions in a population, i.e. reluctant to make their needs known to professional services. More research about caregiving problems for Chinese family caregivers at the transition from hospital to community is required.

Relevance to clinical practice.  Ongoing need assessment by nurses who are in regular contact with caregivers in hospital and community will enable appropriate interventions such as providing education and emotional support both before and after discharge to be offered to Chinese communities.
Exploring the facets of continence care: a continence survey of care homes for older people in Birmingham
Authors: Rodriguez Natalie A , Sackley Cath M , Badger Frances J
Published: May 2007

Aims.  This study aimed to explore continence prevalence, knowledge and care in Birmingham care homes, UK.

Background.  There is an increasing need to respond to rising numbers of care home residents suffering from incontinence in the UK. A lack of staff knowledge, training and treatment options can make this problematic.

Method.  A survey was developed and sent to 186 care homes in Birmingham catering for those 65 years old and over. A freepost envelope was provided for return of the completed form.

Results.  Sixty‐six (35%) surveys were returned providing a representative sample. Eighty per cent of nursing home residents and 49% of residential home residents were reported incontinent. Half of the staff (53%) had some form of qualification in caring/nursing. Absorbent products were used to manage incontinence in over 50% of homes. Advanced age was cited as the main cause of incontinence. Sixty‐eight per cent of homes used the continence advisory service and/or district nursing services.

Conclusions.  While results proved encouraging in relation to numbers of qualified staff there is a need for improved continence awareness. Focus on aetiology, assessment procedures and treatment options are needed. While external service use levels were encouraging there appeared to be a need for an exchange of knowledge between services to optimize care.

Relevance to clinical practice.  While there is an existing body of knowledge relating to continence prevalence and management in nursing homes this research base is lacking for residential care settings. This survey addresses this imbalance by combining information from both settings. This paper also provides an insight into the components that have an impact upon continence promotion, prevention and management. By establishing a picture of current practice an indication of areas for improvement can be exposed.
Weight increase in patients with dementia, and alteration in meal routines and meal environment after integrity promoting care
Authors: Mamhidir Anna‐Greta , Karlsson Ingvar , Norberg Astrid , Mona Kihlgren
Published: May 2007

Aims.  To follow weight changes in patients with moderate and severe dementia and analyse how these changes related to biological and psychological parameters after staff education and support in integrity promoting care. A further aim was to describe meal environment and routines relative to the intervention.

Background.  Weight loss in patients with dementia and in particular Alzheimer's disease is common. The aetiology appears multifactorial with the meal environment and a decreased independence while eating among the factors.

Method.  Over a three‐month intervention period, an integrity‐promoting care training programme was conducted with the staff of a long‐term ward. Alzheimer's disease patients, 18 from an intervention ward and 15 from a control ward were included and possible effects were evaluated. Weighing was conducted at the start and after completion of the intervention. Weight changes were analysed in relation to psychological and biochemical parameters. In addition, the staff wrote diaries about, for example changes made in the environment and in their work.

Results.  The most prominent difference observed was weight increases in 13 of 18 patients compared with two of 15 patients in the control ward. No weight changes were related to the type of dementia. The individual weight changes correlated significantly to changes in the intellectual functions. Relationships between weight change, increased motor function and increased appetite were non‐significant. There was no significant relationship between weight changes and changes in biochemical parameters. According to the staff, increased contact with the patients and a more pleasant atmosphere resulted when the meal environment and routines were changed.

Relevance to clinical practice.  Weight gain in patients with moderate and severe dementia was achieved by adjusting the meal environment to the individual's needs. Staff education was profitable, as increased competence seemed to promote individually adapted feeding situations. Ensuring good meal situations need to be given high priority.
The sterilisation of people with intellectual disabilities in England and Wales during the period 1988 to 1999
Authors: Stansfield A. J. , Holland A. J. , Clare I. C. H.
Published: May 2007

Background  In England and Wales, if a person is thought to lack capacity to make a decision to undergo a sterilisation operation, a specific process occurs. A Judge sitting in the Family Division of the High Court receives evidence from relevant parties including psychiatric and gynaecological experts and subsequently decides on the lawfulness of the sterilisation operation. We have investigated who was referred and by whom, the reasons given, and the outcomes of the legal process during an 11‐year period.

Methods  A retrospective case note study was undertaken of all referrals to the Official Solicitor’s Office for sterilisation between 1988 and 1999. Using an established protocol, information was obtained from legal and clinical notes relating to the initial referral to the Official Solicitor, the opinions of experts, the court proceedings and the outcome.

Results  Seventy‐three people, only three (5%) of whom were men, were referred over the 11 years. They were aged between 12 and 41 years. All but one had an intellectual disability (ID). Seventy‐five per cent were living at home and did not have partners. Full applications were made for 50 of the 73 (68.5%), 39 proceeding to a court hearing. For 31 of the 39 (79.5%) cases, the court ruled that sterilisation would be in the person’s ‘best interests’. An additional six women probably had operations resulting in sterilisation without court authorization.

Conclusions  Referrals for sterilisation are almost always for people with IDs. In the case of the majority, it was thought that it was unlikely that they had had or will have in the future a sexual relationship. Care needs to be taken in interpreting the results in this case note study. We hypothesize that the request for sterilisation is the consequence of a complex process reflecting concerns about the future, but in the context of other family issues. The relationship between lacking the capacity to consent to sterilisation and the capacity to consent to sexual intercourse needs further exploration. Future studies including interviews with those involved are required.
Recent demographic bottlenecks are not accompanied by a genetic signature in banner‐tailed kangaroo rats (Dipodomys spectabilis)
Authors: BUSCH JOSEPH D. , WASER PETER M. , DeWOODY J. ANDREW
Published: May 2007

Single‐sample methods of bottleneck detection are now routine analyses in studies of wild populations and conservation genetics. Three common approaches to bottleneck detection are the heterozygosity excess, mode‐shift, and M‐ratio tests. Empirical groundtruthing of these methods is difficult, but their performances are critical for the accurate reconstruction of population demography. We use two banner‐tailed kangaroo rat (Dipodomys spectabilis) populations from southeastern Arizona (USA) that are known to have experienced recent demographic reductions to search for genetic bottleneck signals with eight microsatellite loci. Over eight total sample‐years, neither population showed a genetic bottleneck signature. M‐ratios in both populations were large, stable, and never fell below a critical significance value (Mc). The mode shift test did not detect any distortion of allele frequencies, and tests of heterozygosity excess were not significant in postbottleneck samples when we used standard microsatellite mutation models. The genetic effects of bottlenecks like those experienced by our study populations should be strongly influenced by rates of mutation and migration. We used genetic parentage data to estimate a relatively high mutation rate in D. spectabilis (0.0081 mutants/generation/locus), but mutation alone is unlikely to explain the temporal distribution of rare alleles that we observed. Migration (gene flow) is a more likely explanation, despite prior mark–recapture analysis that estimated very low rates of interpopulation dispersal. We interpret our kangaroo rat data in light of the broader literature and conclude that in natural populations connected by dispersal, demographic bottlenecks may prove difficult to detect using molecular genetic data.
Phylogeography of the pine processionary mothThaumetopoea wilkinsoniin the Near East
Authors: SIMONATO M. , MENDEL Z. , KERDELHUÉ C. , ROUSSELET J. , MAGNOUX E. , SALVATO P. , ROQUES A. , BATTISTI A. , ZANE L.
Published: May 2007

Phylogeographic structure of the eastern pine processionary mothThaumetopoea wilkinsoniwas explored in this study by means of nested clade phylogeographic analyses of COI and COII sequences of mitochondrial DNA and Bayesian estimates of divergence times. Intraspecific relationships were inferred and hypotheses tested to understand historical spread patterns and spatial distribution of genetic variation. Analyses revealed that allT. wilkinsonisequences were structured in three clades, which were associated with two major biogeographic events, the colonization of the island of Cyprus and the separation of southwestern and southeastern Anatolia during the Pleistocene. Genetic variation in populations ofT. wilkinsoniwas also investigated using amplified fragment length polymorphisms and four microsatellite loci. Contrasting nuclear with mitochondrial data revealed recurrent gene flow between Cyprus and the mainland, related to the long‐distance male dispersal. In addition, a reduction in genetic variability was observed at both mitochondrial and nuclear markers at the expanding boundary of the range, consistent with a recent origin of these populations, founded by few individuals expanding from nearby localities. In contrast, several populations fixed for one single mitochondrial haplotype showed no reduction in nuclear variability, a pattern that can be explained by recurrent male gene flow or selective sweeps at the mitochondrial level. The use of both mitochondrial and nuclear markers was essential in understanding the spread patterns and the population genetic structure ofT. wilkinsoni, and is recommended to study colonizing species characterized by sex‐biased dispersal.
Patterns and processes underlying evolutionary significant units in the Platypleura stridula L. species complex (Hemiptera: Cicadidae) in the Cape Floristic Region, South Africa
Authors: PRICE B. W. , BARKER N. P. , VILLET M. H.
Published: May 2007

Cicadas have been shown to be useful organisms for examining the effects of distribution, plant association and geographical barriers on gene flow between populations. The cicadas of the Platypleura stridula species complex are restricted to the biologically diverse Cape Floristic Region (CFR) of South Africa. They are thus an excellent study group for elucidating the mechanisms by which hemipteran diversity is generated and maintained in the CFR. Phylogeographical analysis of this species complex using mitochondrial DNA Cytochrome Oxidase I (COI) and ribosomal 16S sequence data, coupled with preliminary morphological and acoustic data, resolves six clades, each of which has specific host‐plant associations and distinct geographical ranges. The phylogeographical structure implies simultaneous or near‐simultaneous radiation events, coupled with shifts in host‐plant associations. When calibrated using published COI and 16S substitution rates typical for related insects, these lineages date back to the late Pliocene – early Pleistocene, coincident with vegetation change, altered drainage patterns and accelerated erosion in response to neotectonic crustal uplift and cyclic Pleistocene climate change, and glaciation‐associated changes in climate and sea level.
Isolation by distance and Pleistocene expansion of the lowland populations of the white piranha Serrasalmus rhombeus
Authors: HUBERT NICOLAS , DUPONCHELLE FABRICE , NUÑEZ JESUS , RIVERA ROSARIO , BONHOMME FRANÇOIS , RENNO JEAN‐FRANÇOIS
Published: May 2007

The genetic variability and distribution of Amazonian fish species have likely been influenced by major disturbance events in recent geological times. Alternatively, the great diversity of aquatic habitat in the Amazon is likely to shape ongoing gene flow and genetic diversity. In this context, complex patterns of genetic structure originating from a joint influence of historical and contemporary gene flow are to be expected. We explored the relative influence of Pleistocene climatic fluctuations and current water chemistry on the genetic structure of a piranha, Serrasalmus rhombeus, in the Upper Amazon by the simultaneous analysis of intron length polymorphism and mitochondrial DNA sequences. The Madeira river is well suited for that purpose as it is characterized by a great diversity of water types, the presence of one of the largest floodplain of the Amazon and the potential occurrence of two Pleistocene refuges. We found evidence of genetic structure even at a small geographical scale (less than 10 km), indicating that the floodplain is not a homogenizing factor promoting interdrainage dispersal in S. rhombeus. Likewise, the hierarchical genetic structure inferred was correlated to geographical distance instead of habitat characteristic. Our results also support the hypothesis that the area underwent population expansion during the last 800 000 years. In addition, a higher level of genetic diversity was found in the samples from the putative Aripuanã refuge. The present findings suggest that Pleistocene refuges contributed significantly to the colonization of the lowlands in the Upper Amazon valley during the Pleistocene.
ExoR is genetically coupled to the ExoS–ChvI two‐component system and located in the periplasm of Sinorhizobium meliloti
Authors: Wells Derek H. , Chen Esther J. , Fisher Robert F. , Long Sharon R.
Published: May 2007

Sinorhizobium meliloti enters into a symbiotic relationship with legume host plants, providing fixed nitrogen in exchange for carbon and amino acids. In S. meliloti, exoR and the exoS–chvI two‐component system regulate the biosynthesis of succinoglycan, an exopolysaccharide important for host invasion. It was previously reported that a loss‐of‐function mutation in exoR and a gain‐of‐function mutation in exoS cause overproduction of succinoglycan and loss of motility, indicating that ExoR negatively regulates and ExoS–ChvI positively regulates downstream genes. However, a relationship between exoR and exoS–chvI has never been clearly established. By identification and detailed characterization of suppressor strains, we provide genetic evidence that exoR and exoS–chvI control many similar phenotypes. These include succinoglycan production, symbiosis, motility, and previously uncharacterized prototrophy and biofilm formation, all of which are co‐ordinately restored by suppressors. We further demonstrate that ExoR is located in the periplasm, suggesting that it functions to regulate downstream genes in a novel manner. In pathogenic bacteria closely related to S. meliloti, exoS–chvI homologues are required for virulence and the regulation of cell envelope composition. Our data suggest that periplasmically localized ExoR and ExoS–ChvI function together in a unique and critical regulatory system associated with both free‐living and symbiotic states of S. meliloti.
Molecular analysis of the cercosporin biosynthetic gene cluster in Cercospora nicotianae
Authors: Chen Huiqin , Lee Miin‐Huey , Daub Margret E. , Chung Kuang‐Ren
Published: May 2007

We describe a core gene cluster, comprised of eight genes (designated CTB1–8), and associated with cercosporin toxin production in Cercospora nicotianae. Sequence analysis identified 10 putative open reading frames (ORFs) flanking the previously characterized CTB1 and CTB3 genes that encode, respectively, the polyketide synthase and a dual methyltransferase/monooxygenase required for cercosporin production. Expression of eight of the genes was co‐ordinately induced under cercosporin‐producing conditions and was regulated by the Zn(II)Cys6 transcriptional activator, CTB8. Expression of the genes, affected by nitrogen and carbon sources and pH, was also controlled by another transcription activator, CRG1, previously shown to regulate cercosporin production and resistance. Disruption of the CTB2 gene encoding a methyltransferase or the CTB8 gene yielded mutants that were completely defective in cercosporin production and inhibitory expression of the other CTB cluster genes. Similar ‘feedback’ transcriptional inhibition was observed when the CTB1, or CTB3 but not CTB4 gene was inactivated. Expression of four ORFs located on the two distal ends of the cluster did not correlate with cercosporin biosynthesis and did not show regulation by CTB8, suggesting that the biosynthetic cluster was limited to CTB1–8. A biosynthetic pathway and a regulatory network leading to cercosporin formation are proposed.
The Anabaena sp. strain PCC 7120 asr1734 gene encodes a negative regulator of heterocyst development
Authors: Wu Xiaoqiang , Lee Dong W. , Mella Rodrigo A. , Golden James W.
Published: May 2007

The novel asr1734 gene of Anabaena (Nostoc) sp. strain PCC 7120 inhibited heterocyst development when present in extra copies. Overexpression of asr1734 inhibited heterocyst development in several strains including the wild type and two strains that form multiple contiguous heterocysts (Mch phenotype): a PatS null mutant and a hetRR223W mutant. Overexpression of asr1734 also caused increased nblA messenger RNA levels, and increased loss of autofluorescence in vegetative cells throughout filaments after nitrogen or sulphur depletion. Unlike the wild type, an asr1734 knockout mutant formed 5% heterocysts after a nitrogen shift from ammonium to nitrate, and formed 15% heterocysts and a weak Mch phenotype after step‐down to medium lacking combined nitrogen. After nitrogen step‐down, the asr1734 mutant had elevated levels of ntcA messenger RNA. A green fluorescent protein reporter driven by the asr1734 promoter, Pasr1734‐gfp, was expressed specifically in differentiating proheterocysts and heterocysts after nitrogen step‐down. Strains overexpressing asr1734 and containing PhetR‐gfp or PpatS‐gfp reporters failed to show normal patterned upregulation 24 h after nitrogen step‐down even though hetR expression was upregulated at 6 h. Apparent orthologues of asr1734 are found only in two other filamentous nitrogen‐fixing cyanobacteria, Anabaena variabilis and Nostoc punctiforme.
Cold‐shock‐induced de novo transcription and translation of infA and role of IF1 during cold adaptation
Authors: Giangrossi Mara , Brandi Anna , Giuliodori Anna Maria , Gualerzi Claudio O. , Pon Cynthia L.
Published: May 2007

Escherichia coli infA is transcribed from two promoters, P1 and P2, into a longer and a shorter mRNA encoding translation initiation factor IF1. Although P1 is intrinsically stronger than P2, the shorter half‐life of its transcripts causes the steady‐state level of the P2 transcript to be substantially higher than that of P1 during growth at 37°C. After cold‐shock, de novo transcription and translation of infA contribute to the transient increase of the IF1/ribosomes ratio, which is partially responsible for translational bias consisting in the preferential translation of cold‐shock mRNAs in the cold. Cold‐stress induction of infA expression is mainly due to the high activity of P1 at low temperature, which is further increased by transcriptional stimulation by CspA and by an increased transcript stability. Furthermore, the longer infA mRNA originating from P1 is preferentially translated at low temperature by the translational machinery of cold‐shocked cells. The increased level of IF1 during cold adaptation is essential for overcoming the higher stability of the 70S monomers at low temperature and for providing a sufficient pool of dissociated 30S subunits capable of initiating translation.
Elongation and gravitropic responses of Arabidopsis roots are regulated by brassinolide and IAA
Authors: KIM TAE‐WUK , LEE SUN MIN , JOO SE‐HWAN , YUN HYE SUP , LEE YEW , KAUFMAN PETER B. , KIRAKOSYAN ARA , KIM SOO‐HWAN , NAM KYOUNG HEE , LEE JUNE SEUNG , CHANG SOO CHUL , KIM SEONG‐KI
Published: May 2007

Exogenously applied brassinolide (BL) increased both gravitropic curvature and length of primary roots of Arabidopsis at low concentration (10−10 M), whereas at higher concentration, BL further increased gravitropic curvature while it inhibited primary root growth. BRI1‐GFP plants possessing a high steady‐state expression level of a brassinosteroid (BR) receptor kinase rendered the plant's responses to gravity and root growth more sensitive, while BR‐insensitive mutants, bri1‐301 and bak1, delayed root growth and reduced their response to the gravitropic stimulus. The stimulatory effect of BL on the root gravitropic curvature was also enhanced in auxin transport mutants, aux1‐7 and pin2, relative to wild‐type plants, and increasing concentration of auxin attenuated BL‐induced root sensitivity to gravity. Interestingly, IAA treatment to the roots of bri1‐301 and bak1 plants or of plants pretreated with a BL biosynthetic inhibitor, brassinazole, increased their sensitivity to gravity, while these treatments for the BL‐hypersensitive transgenic plants, BRI1‐GFP and 35S‐BAK1, were less effective. Expression of a CYP79B2 gene, encoding an IAA biosynthetic enzyme, was suppressed in BL‐hypersensitive plant types and enhanced in BL‐insensitive or ‐deficient plants. In conclusion, our results indicate that BL interacts negatively with IAA in the regulation of plant gravitropic response and root growth, and its regulation is achieved partly by modulating biosynthetic pathways of the counterpart hormone.
RNAi knockdown of Oryza sativa root meander curling gene led to altered root development and coiling which were mediated by jasmonic acid signalling in rice
Authors: JIANG JIAFU , LI JUNHUA , XU YUNYUAN , HAN YE , BAI YUE , ZHOU GUOXIN , LOU YONGGEN , XU ZHIHONG , CHONG KANG
Published: May 2007

Jasmonic acid (JA) is a well‐known defence hormone, but its biological function and mechanism in rice root development are less understood. Here, we describe a JA‐induced putative receptor‐like protein (OsRLK, AAL87185) functioning in root development in rice. RNA in situ hybridization revealed that the gene was expressed largely in roots, and a fusion protein showed its localization on the plasma membrane. The primary roots in RNAi transgenic rice plants meandered and curled more easily than wild‐type (WT) roots under JA treatment. Thus, this gene was renamed Oryza sativa root meander curling (OsRMC). The transgenic primary roots were shorter, the number of adventitious roots increased and the number of lateral roots decreased as compared to the WT. As well, the second sheath was reduced in length. Growth of both primary roots and second sheaths was sensitive to JA treatment. No significant change of JA level appeared in the roots between the transgenic rice line and WT. Expression of RSOsPR10, involved in the JA signalling pathway, was induced in transgenic rice. Western blotting revealed OsRMC induced by JA. Our results suggest that OsRMC of the DUF26 subfamily involved in JA signal transduction mediates root development and negatively regulates root curling in rice.
Sudden oak death: geographic risk estimates and predictions of origins
Authors: Kluza D. A. , Vieglais D. A. , Andreasen J. K. , Peterson A. T.
Published: May 2007

Ecological niche modelling techniques were applied to address the questions of the origins and potential geographic extent of sudden oak death, caused by the pathogenPhytophthora ramorum. Based on an ecological niche model derived from the phytopathogen's California distribution and distributions of potential host species, it was determined that the disease has high potential to colonize the southeastern United States, and that its likely source area is eastern Asia.
Control of black foot disease in grapevine nurseries
Authors: Halleen F. , Fourie P. H. , Crous P. W.
Published: May 2007

Black foot disease of grapevines is a decline and dieback disease caused by a soilborne pathogen complex including Cylindrocarpon liriodendri, C. macrodidymum, Campylocarpon fasciculare and Campyl. pseudofasciculare. These pathogens cause primary infections of roots and basal ends of grafted cuttings in nursery soils. Thirteen fungicides were screened in vitro for mycelial inhibition of these pathogens. Prochloraz manganese chloride, benomyl, flusilazole and imazalil were the most effective fungicides tested, and were subsequently included in semi‐commercial field trials. Basal ends of grafted cuttings were dipped in various chemical and biological treatments prior to planting in open‐rooted nurseries. Black foot pathogens were not isolated from grafted cuttings prior to planting. Additional treatments involved soil amendments with Trichoderma formulations and hot water treatment of dormant nursery grapevines. Field trials were evaluated after eight months. Isolations from uprooted plants revealed low levels of black foot pathogens in the roots of untreated control plants, and significantly higher levels in basal ends of rootstocks. The incidence of black foot pathogens, as well as that of Petri disease pathogens, was not significantly and/or consistently reduced by the majority of chemical or biological treatments. However, these pathogens were not isolated from uprooted plants that were subjected to hot water treatment. It is therefore recommended that hot water treatment of dormant nursery plants be included in an integrated strategy for the proactive management of these diseases in grapevine nurseries.
Phytophthora infestans in a single field in southwest Sweden early in spring: symptoms, spatial distribution and genotypic variation
Authors: Widmark A.‐K. , Andersson B. , Cassel‐Lundhagen A. , Sandström M. , Yuen J. E.
Published: May 2007

Sixty‐eight isolates of Phytophthora infestans were collected from an early planted, fleece‐protected potato field in southwest Sweden in May 2001. No infection was observed in the neighbouring fields. In the field investigated, infected plants were found in six discrete foci, with symptoms almost exclusively observed in the lower part of the canopy and numerous infections found on stems and on leaves touching the ground. The structure of the population was analysed based on mating type, mitochondrial haplotype and microsatellites (SSRs) as markers. Both mating types were present and haplotypes Ia and IIa were detected. Among 61 isolates analysed with microsatellite markers, 14 multilocus genotypes were distinguished based on six polymorphic loci. Out of the six foci, three included 3–5 genotypes each. There were unique genotypes in all foci, except two closely situated to each other. These findings strongly suggest that soilborne oosporic inoculum contributed significantly to initiate the late‐blight epidemic in the investigated field.
Association of HLA genes with Ankylosing Spondylitis in Han Population of eastern China
Authors: Fang M. , Chen R. , Cai Q. , Duan S. , Lv K. , Cheng N. , Sun S.
Published: May 2007

Ankylosing spondylitis (AS) is a chronic inflammatory disorder with a multifactorial genetic basis. HLA‐B27 was reported with the greatest susceptibility to AS but did not act alone. The aim of this study was to search for other gene(s) associated with AS independently of HLA‐B27 using 13 microsatellite markers spanning 1.5 Mb from locus TAP1 to HLA‐Cw and a single‐nucleotide polymorphism marker within NFκBIL1 gene promoter. Genotyping for microsatellites was performed in 175 AS patients of eastern Chinese and 219 ethnically matched healthy controls using polymerase chain reaction with fluorescence‐labelled primers, whereas the SNP marker was genotyped by direct DNA sequencing. Allele as well as haplotype frequencies were compared between cases and controls, and a linkage disequilibrium analysis was performed to estimate the LD relationship between the candidate regions. The frequencies of alleles D6S2811*128, STR_MICA*A5.1 and D6S2672*109, as well as haplotypes D6S2811*128–D6S2927*213–D6S2810*340, D6S2927* 221–D6S2810*350–MICA*A5.1, and D6S2810*350–MICA*A5.1–D6S2800* 136 were significantly increased in B27‐positive AS patients when compared with B27‐positive controls. The results indicated that there may be other gene(s) within the HLA region, especially around locus HLA‐B or HLA‐Cw, with susceptibility to AS independently of HLA‐B27.
Targeted inactivation of the tobacco plastome origins of replication A and B
Authors: Scharff Lars B. , Koop Hans‐Ulrich
Published: May 2007

According to the Kolodner and Tewari model [Kolodner, R.D. and Tewari, K.K. (1975) Nature, 256, 708.], plastid DNA replication involves displacement‐loop and rolling‐circle modes of replication, which are initiated on a pair of origins of replication (ori). In accordance with the model, such a pair of oris –oriA and oriB– was described in Nicotiana tabacum [Kunnimalaiyaan, M. and Nielsen B.L. (1997b) Nucl. Acids Res. 25, 3681.]. However, as reported previously, both copies of oriA can be deleted without abolishing replication. Deletion of both oriBs was not found [Mühlbauer, S.K. et al. (2002) Plant J. 32, 175.]. Here we describe new ori inactivation lines, in which one oriB is deleted and the other copy is strongly mutated. In addition, lines oriA and oriB were deleted from the same inverted repeat. In contrast to the expectations of the model, neither oriA nor oriB is essential. Some of the deletions led to reduced growth of plants and reduced plastid DNA copy number in later stages of leaf development. The gross structure of plastid DNA was unchanged; however, the location of the ends of branched plastid DNA complexes was different in the inactivation mutants. Taken together, the results indicate that there are additional mechanisms of plastid DNA replication and/or additional origins of replication. These mechanisms seem to be different from those found in eubacteria, which, according to the endosymbiont theory, are the progenitors of plastids.
Mutated TATA‐box/TATA binding protein complementation system for regulated transgene expression in tobacco
Authors: Chaturvedi Chandra Prakash , Lodhi Niraj , Ansari Suraiya A. , Tiwari Siddharth , Srivastava Rakesh , Sawant Samir V. , Tuli Rakesh
Published: May 2007

A two‐component expression system was developed to achieve tightly regulated expression of transgenes in plants. One component functioned as an expression module whereas the other functioned as a regulatory module. The expression module comprised a highly expressing TATA‐dependent seed‐specific promoter in which the TATA motif in the core promoter was mutated to TGTA. The regulatory module expressed a mutated general transcription factor TBPm3 that recognized TGTA and initiated transcription. Vectors were designed using component one alone or in combination with component two, and were transformed into tobacco. The TGTA mutation in the TATA‐box completely inactivated the promoter, making component one non‐functional. This non‐functional module became transcriptionally active in the presence of the component two that expressed TBPm3. The reporter gene gusA was expressed from the TGTA‐containing chimeric legumin promoter, in a tightly seed‐specific manner, in transgenic tobacco plants in the presence of TBPm3 that was expressed from a constitutive promoter. The results show that the TGTA and TBPm3 combination can be used to achieve high‐level tissue‐specific expression of TATA‐dependent promoters.
The transcription factor HIG1/MYB51 regulates indolic glucosinolate biosynthesis in Arabidopsis thaliana
Authors: Gigolashvili Tamara , Berger Bettina , Mock Hans‐Peter , Müller Caroline , Weisshaar Bernd , Flügge Ulf‐Ingo
Published: May 2007

Glucosinolates are a class of plant secondary metabolites that serve as antiherbivore compounds in plant defence. A previously identified Arabidopsis thaliana activation‐tagged line, displaying altered levels of secondary metabolites, was shown here to be affected in the content of indolic and aliphatic glucosinolates. The observed chemotype was caused by activation of the R2R3‐MYB transcription factor gene HIG1 (HIGH INDOLIC GLUCOSINOLATE 1, also referred to as MYB51). HIG1/MYB51 was shown to activate promoters of indolic glucosinolate biosynthetic genes leading to increased accumulation of indolic glucosinolates. The corresponding loss‐of‐function mutant hig1‐1 contained low levels of glucosinolates. Overexpression of the related transcription factor ATR1/MYB34, which had previously been described as a regulator of indolic glucosinolate and indole‐3‐acetic acid homeostasis, in the hig1‐1 mutant background led to a partial rescue of the mutant chemotype along with a severe high‐auxin growth phenotype. Overexpression of MYB122, another close homologue of HIG1/MYB51, did not rescue the hig1‐1 chemotype, but caused a high‐auxin phenotype and increased levels of indolic glucosinolates in the wild‐type. By contrast, overexpression of HIG1/MYB51 resulted in the specific accumulation of indolic glucosinolates without affecting auxin metabolism and plant morphology. Mechanical stimuli such as touch or wounding transiently induced the expression of HIG1/MYB51 but not of ATR1/MYB34, and HIG1/MYB51 overexpression reduced insect herbivory as revealed by dual‐choice assays with the generalist lepidopteran herbivore, Spodoptera exigua. We hypothesize that HIG1/MYB51 is a regulator of indolic glucosinolate biosynthesis that also controls responses to biotic challenges.
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot–Marie–Tooth disease type 4
Authors: Claramunt R , Sevilla T , Lupo V , Cuesta A , Millán JM , Vílchez JJ , Palau F , Espinós C
Published: May 2007

Charcot–Marie–Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of hereditary motor and sensory neuropathy (HMSN). When we began this study, three genes or loci associated with inherited peripheral neuropathies had already been identified in the European Gypsy population: HMSN‐Lom (MIM 601455), HMSN‐Russe (MIM 605285) and the congenital cataracts facial dysmorphism neuropathy syndrome (MIM 604168). We have carried out genetic analyses in a series of 20 Spanish Gypsy families diagnosed with a demyelinating CMT disease compatible with an autosomal recessive trait. We found the p.R148X mutation in the N‐myc downstream‐regulated gene 1 gene to be responsible for the HMSN‐Lom in four families and also possible linkage to the HMSN‐Russe locus in three others. We have also studied the CMT4C locus because of the clinical similarities and showed that in 10 families, the disease is caused by mutations located on the SH3 domain and tetratricopeptide repeats 2 (SH3TC2) gene: p.R1109X in 20 out of 21 chromosomes and p.C737_P738delinsX in only one chromosome. Moreover, the SH3TC2 p.R1109X mutation is associated with a conserved haplotype and, therefore, may be a private founder mutation for the Gypsy population. Estimation of the allelic age revealed that the SH3TC2 p.R1109X mutation may have arisen about 225 years ago, probably as the consequence of a bottleneck.
A novel homozygous frameshift deletion c.471del of HFE associated with hemochromatosis
Authors: Cukjati M , Koren S , Čurin Šerbec V , Vidan‐Jeras B , Rupreht R
Published: May 2007

A 47‐year‐old white male patient who manifested biochemical evidence of iron overload was found not to be a carrier of the three most common mutations, C282Y, H63D and S65C, of the HFE gene. Sequencing of the patient’s entire HFE‐coding region revealed a presence of a previously undescribed frameshift deletion c.471del in exon 3 resulting in a premature termination of a nonsense HFE protein. Interestingly, the patient was a homozygous carrier of this novel mutation and his hemochromatosis phenotype can be explained by the fact that he has no intact HFE protein. To the best of our knowledge, this is the first description of a complete loss of function of the HFE gene because of a homozygous mutation. The patient’s son was found to be a heterozygous carrier of the mutation and has so far exhibited no indications of iron overload. Similarly, A*02‐B*40/A*02‐B*40 homozygous human leukocyte antigen (HLA) genotype was determined in the patient and heterozygous A*02‐B*40/A*03‐B*35 HLA genotype in his son. Thus, the novel HFE frameshift deletion c.471del was linked to the HLA‐A*02‐B*40 haplotype.
Genetic counselling and consent for tumour testing in HNPCC
Authors: Gaff CL , Rogers MT , Frayling IM
Published: May 2007

Molecular pathological tests are performed on stored tumour material in order to identify individuals with hereditary non‐polyposis colorectal cancer. We have previously identified that there is widespread use of this testing and now describe what counselling occurs prior to testing and the approaches in seeking consent. A respondent from every cancer genetic centre in UK offering microsatellite instability and/or immunohistochemistry testing (n= 20, response rate = 100%) was interviewed in order to ascertain pre‐test counselling and consent protocols. Individuals providing consent are not always seen in person prior to providing consent but few services had supporting written information. Nine (of 19) consent forms documented consent to perform genetic testing, while the majority (14/19) sought consent to release pathology samples to the genetic service. Less than half of the services routinely seek consent to test samples from a deceased individual. Concerns were raised about spousal consent when the implications of results are for blood relatives. The differences identified between genetic counselling for testing of tumour tissue and for germ‐line genetic testing suggest that counselling protocols specific for somatic testing should be developed. The results are discussed in the context of a changing legal environment and anticipated growing demand for testing.
Current status of thalassemia in minority populations in Guangxi, China
Authors: Pan HF , Long GF , Li Q , Feng YN , Lei ZY , Wei HW , Huang YY , Huang JH , Lin N , Xu QQ , Ling SY , Chen XJ , Huang T
Published: May 2007

Thalassemia is one of the most common monogenic disorders in the world. In order to develop a community‐based prevention program, we screened 12,900 individuals for α‐ and β‐thalassemia in Baise City, Guangxi, China, with hematological methods and molecular assays. We found that the frequency of carriers in this area for α‐thalassemia is 15%. β‐thalassemia carriers comprise 4.8% of the populations. Five mutations account for 98% of α‐thalassemia [−−SEA 46.7%; −α/4.2, 23.9%; −α/3.7, 21.7%; hemoglobin (Hb) Constant Spring, 6.5%; Hb Quong Sze, 1.1%]. Seven mutations in the β‐globin gene account for 99% of the mutations [codon (CD) 41/42 (−TCTT) (39.4%), CD 17(A→T) (32%), CD 71/72 (+A) (7.4%), −28 (A→G) (5.8%), IVS‐2‐654 (C→T) (5.8%), CD26 (Hb E) (4%), IVS‐1 (G→A) (3.7%), and CD 43(G→T) (1.9%)]. Most individuals with α‐thalassemia major die in the uterus or shortly after birth. Among 106 patients with β‐thalassemia major followed by our clinic, the majority died before 5 years of age. Knowledge surveys about thalassemia were conducted. Our results show a severe lack of knowledge about thalassemia in both medical professionals and in the general populations. This study shows that thalassemia is a very severe public health issue in minority populations in Baise City, China. Identification of the common mutations will allow us to design cost‐effective molecular tests. There is an urgent need to educate the general population and the medical community for a successful community‐based prevention program.
Toward understanding the genetic basis of neural tube defects
Authors: Kibar Z , Capra V , Gros P
Published: May 2007

Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. Their etiology is quite complex involving environmental and genetic factors and their underlying molecular and cellular pathogenic mechanisms remain poorly understood. Animal studies have recently demonstrated an essential role for the planar cell polarity pathway (PCP) in mediating a morphogenetic process called convergent extension during neural tube formation. Alterations in members of this pathway lead to NTDs in vertebrate models, representing novel and exciting candidates for human NTDs. Genetic studies in NTDs have focused mainly on folate‐related genes based on the finding that perinatal folic acid supplementation reduces the risk of NTDs by 60–70%. A few variants in these genes have been found to be significantly associated with an increased risk for NTDs. The candidate gene approach investigating genes involved in neurulation has failed to identify major causative genes in the etiology of NTDs. Despite this history of generally negative findings, we are achieving a rapid and impressive progress in understanding the genetic basis of NTDs, based mainly on the powerful tool of animal models.