bluuebunny/crossref_metadata_2025_split huggingface dataset:
Gaucher disease associated with a unique Kphl restriction site: identification of the amino‐acid substitution
Authors: BEUTLER E. , GELBART T. 
Published: September 2007

SUMMARYIn an earlier survey of the glucocerebrosidase locus using 20 restriction enzymes and a 1039 bp probe we found that 1 of 9 Gaucher disease patients had a unique pattern with KpnI, a pattern that was not observed in any other Gaucher patient or in 31 controls. We have now localized the mutation in this patient to a T → A transversion in nucleotide 764 of the cDNA occurring on one of the two glucocerebrosidase alleles. The presumed abnormality in the other allele has not been identified. The deduced amino‐acid change in the allele with the mutation at nucleotide 764 is a relatively drastic alteration of amino acid 255 from phenylalanine to tyrosine. The genomic DNAs of 31 other Gaucher disease patients (representing 62 Gaucher disease alleles) were examined for this mutation using the polymerase chain reaction. None were found to have this abnormality.
Assignment of the polymorphic intestinal mucin gene (MUC2) to chromosome 11p15
Authors: GRIFFITHS B. , MATTHEWS D. J. , WEST L. , ATTWOOD J. , POVEY S. , SWALLOW D. M. , GUM J. R. , KIM Y. S. 
Published: September 2007

SUMMARYA cDNA coding for a mucin expressed in intestine has recently been cloned (Gum et al. 1989). We describe here the use of this cDNA to map the gene (MUC2) to human chromosome 11 using somatic cell hybrids, and to make the regional localization to 11p15 by in situ hybridization. Analysis of the CEPH (Centre 'Étude du Polymorphisme Humain) families revealed that MUC2 forms part of the tight linkage group on llpl5 which contains HRAS, INS, TH and HBBC.
An RFLP map for 2q33‐q37 from multicase mycobacterial and leishmanial disease families: no evidence for an Lsh/Ity/Bcg gene homologue influencing susceptibility to leprosy
Authors: SHAW M.‐A. , ATKINSON S. , DOCKRELL H. , HUSSAIN R. , LINS‐LAINSON Z. , SHAW J. , RAMOS F. , SILVEIRA F. , MEHDI S. Q. , KAUKAB F. , KHALIQ S. , CHIANG T. , BLACKWELL J. 
Published: September 2007

SummaryThe mycobacterial disease leprosy and tuberculosis (TB) and the leishmaniases are characterized by a wide spectrum of disease phenotypes, and by the fact that the majority of individuals exposed to the causative organisms Mycobacterium leprae, M. tuberculosis and Leishmania sp. become infected but do not present with clinical disease. In order to determine whether a human homologue to the murine macrophage resistance gene Lsh/Ity/Bcg influences susceptibility to human disease, multicase families for all three disease have been collected, and linkage analysis performed using a panel of markers in the region of human chromosome 2q33‐q37 known to be conserved with the Lsh/Ity/Bcg‐containing region of murine chromosome 1. Because of the paucity of available polymorphic markers/linkage information for 2q33‐q37, data from 35 multicase leprosy, TB and visceral leishmaniasis families (310 individuals) were first pooled to produce a detailed RFLP map of the region. Peak LOD scores well in excess of 3 were observed for linkage between adjacent pairs of a more proximal (2q33‐q35) set of markers CRYGP1, MAP2, FN1, TNP1, VIL1 and DES, and between adjacent pairs of a more distal (2q35‐q37) set COL6A3, D2S55 and D2S3. These peak LOD scores and the corresponding values for θ were used in the MAP92 program to generate a multiple two‐point map with gene order/map intervals (cM) of: CRYGP1‐4.65‐MAP2‐3.45‐FN1‐5.95‐TNP1‐3.41‐VIL1‐3.01‐DES‐20.14‐COL6A‐10.91‐D2S55‐3.67‐D2S3. Although local support for the placement of loci in this order was weak (LOD 2, except for DES‐COL6A3 where LOD = 6.02), the map is consistent with the gene order for those loci (Cryg, Fn‐1, Tp‐1, Vil, Des, Col6a3) previously mapped in the mouse. Data from 17 multicase leprosy families (149 individuals) were further analysed for linkage between a putative disease susceptibility locus (DSL) con
Molecular analysis of the third allele of human deoxyribonuclease I polymorphism
Authors: YASUDA T. , NADANO D. , TAKESHITA H. , TENJO E. , KISHI K. 
Published: September 2007

SUMMARYIn addition to common phenotypes 1, 1–2 and 2 of human deoxyribonuclease I (DNase I), phenotypes 1–3 and 2–3, encoded by a third allele DNASEI*3, have been found by means of isoelectric focusing. The main objective of this study was to identify the mutation site(s) underlying phenotype 3. All eight exons covering the entire open reading frame of the human DNase I structural gene were amplified by the polymerase chain reaction (PCR) and subjected to direct DNA sequencing. When the entire 780‐bp coding region and exon/intron junctions of the DNase I gene of two individuals with phenotypes 1–3 and 2–3 were sequenced, only one nucleotide substitution, a C‐G transition (CCC→GCC), in the codon for amino acid 132 of the mature enzyme located in exon VI was found that resulted in the replacement of proline with alanine (P132A). The mutation was confirmed by allele‐specific amplification of genomic DNA. The replacement of the amino acid residue may reduce the hydrophobicity of the enzyme and thus increase the pi value of the type‐3 isozyme compared with that of type 1, as increasing the hydrophobicity of a protein is known to decrease its pi value. The specific PCR‐amplifications of exons and alleles developed in this study may provide a new tool suitable for rapid screening of DNase I variants.
Population haplotype analysis and evolutionary relations of the COL2A1 gene
Authors: MEULENBELT I. , WILLIAMS C. J. , TE KOPPELE J. M. , VAN DE GIESSEN G. C. , SLAGBOOM P. E. 
Published: September 2007

SUMMARYWe have determined the allele frequencies and pairwise linkage disequilibria of restriction fragment length polymorphisms (RFLPs) distributed over the entire COL2A1 gene (spanning 23.6 kb) in a population of unrelated Dutch Caucasians. Pairwise linkage disequilibrium analysis of RFLP sites between exon 5B and 51 indicated a high degree of partly positive (the rare alleles of both loci are associated) and partly negative (the rare allele is associated with the common allele) linkage disequilibrium.The high degree of linkage disequilibrium enabled the assignment of 13 out of 128 possible haplotypes with 7 RFLPs. An evolutionary tree of these haplotypes was derived using a minimum spanning tree approach, indicating at least two ancestral haplotypes. Our data indicate that disease related population studies involving the COL2A1 gene should include a minimum of 4 RFLPs (D9, A9, H33, P51) to obtain 98% of possible haplotypes occurring.
Testing candidate loci on chromosomes 1 and 6 for genetic linkage to Peutz‐Jeghers' disease
Authors: TOMLINSON I. P. M. , OLSCHWANG S. , ABELOVITCH D. , NAKAMURA Y. , BODMER W. F. , THOMAS G. , MARKIE D. 
Published: September 2007

ABSTRACTPeutz‐Jeghers' syndrome (PJS) is a disease with autosomal dominant inheritance, which is characterised by gastrointestinal hamartomata and characteristic melanin pigmentation. Three candidate sites for a PJS locus have recently been proposed, chromosomes 1p31‐p32, 6q25 and 6p11‐cen. At the first of these sites, a multipoint LOD score of 4.00 had been found, strongly suggesting genetic linkage to PJS. The last two candidate sites were suggested by the chromosomal breakpoints of a patient with an inv(6) and PJS. We have analysed up to 34 families in order to test each of the three candidate sites for linkage to PJS. No evidence was found in support of a Peutz‐Jeghers' syndrome locus on chromosome 1p31‐p32. The candidate region on 6q25 was also excluded. The region close to the centromere of chromosome 6 has not been excluded and there is some evidence of linkage to a marker near 6cen, although genetic heterogeneity in PJS must be proposed to account for a gene at this site.
Ethnicity and myotonic dystrophy: a possible explanation for its absence in sub‐Saharan Africa
Authors: GOLDMAN A. , RAMSAY M. , JENKINS T. 
Published: September 2007

SummaryThe CTG trinucleotide repeat, in the myotonic dystrophy (DM) myotonin protein kinase gene, was studied by PCR analysis in a total of 246 unrelated South African Bantu‐speaking Negroids, 116 San and 27 Pygmies. The size and distribution of the CTG repeat were determined and showed that the alleles ranged in length from 5 to 22 repeats. The most common CTG repeat is 5 (25% of chromosomes) in the South African Negroids but 11 (27 % of chromosomes) in the San population and 12 (22% of chromosomes) in the Pygmies. The southern African Bantu‐speaking Negroids and San were found to have significantly fewer large repeat length alleles than do Caucasoid and Japanese populations. Since DM has not been observed in southern African Negroids, it is possible that the occurrence of fewer large CTG repeats in the normal range may, in part, explain this absence. It seems likely, that the rare DM mutation event postulated to have occurred on a specific chromosomal haplotype, occurred after the migration of humans from Africa.
A study of inbreeding and kinship in intracranial aneurysms in the Saguenay Lac‐Saint‐Jean region (Quebec, Canada)
Authors: BRAEKELEER M. DE , PéRUSSE L. , CANTIN L. , BOUCHARD J.‐M. , MATHIEU J. 
Published: September 2007

SummaryThe genealogies of 533 individuals with an intracranial aneurysm (IA) born in the Saguenay‐Lac‐Saint‐Jean region, a geographically isolated area located in northeastern Quebec, were reconstructed using a population‐based register. A control group consisting of three individuals of the same sex and born on the same day and in the same municipality than the IA patients was created; the genealogies of the 1599 controls were also reconstructed. The coefficients of inbreeding and kinship were calculated. Familial aggregation, i.e. the presence of IA in two or more first‐ to third‐degree relatives, was also sought. The mean inbreeding coefficient was lower in the IA group than in the control group (7·92 × 10−4 versus 10·04 × 10−4). The mean kinship coefficient was higher in the IA group than in the control group (2·17 × 10−4 versus 1·55 × 10−4). Forty‐eight IA patients (9·0%) were first‐degree relatives compared to only 1·9% of the control individuals. The proportion of individuals showing familial aggregation was higher in the IA group than in the control group (29·8% and 18·6% respectively). These results strongly suggest that some IA are genetically determined in this population.
Site 73 in hypervariable region II of the human mitochondrial genome and the origin of European populations
Authors: WILKINSON‐HERBOTS H. M. , RICHARDS M. B. , FORSTER P. , SYKES B. C. 
Published: September 2007

SummaryThe majority of published human mitochondrial DNA sequence data are confined to hypervariable region I in the control region. By contrast, this paper focusses on a nucleotide site in hypervariable region II. Unlike most non‐European populations whose mtDNA sequences have been studied in the literature, the British ‘white Caucasian’ population has a high level of variation at site 73 (following the site numbering by Anderson et al. 1981). This variation appears to have its origin largely in a mutation from guanine to adenine at that site with an estimated minimum age between 15000 and 25000 years. The data of Piercy et al. (1993) suggest that roughly half of the British ‘white Caucasian’ mitochondrial gene pool is descended from a common maternal ancestor who carried this mutation at site 73. This site also plays a central role in distinguishing the five major European mtDNA clusters identified in Richards et al. (1996). We suggest that the lineages carrying an A at site 73, together with some other lineages, may have their origins in a small founder population which expanded after the last glacial maximum about 20000 years ago. We conclude that, in addition to region I sequences, site 73 is worth determining in studies of Caucasian populations.
Green plant material versus ectoparasites in nests of Bonelli's eagle
Authors: Ontiveros D. , Caro J. , Pleguezuelos J. M. 
Published: September 2007

AbstractThe greenery and arthropod nest composition has been studied in a population of Bonelli's eagleHieraaetus fasciatusin south‐east Spain, relating them to the plant availability within territories and breeding success of pairs. Greenery was invariably from trees and shrubs, with pine and oak species accounting for 78% of the nest composition in weight. All eagle pairs withPinus pinasteravailability in territories actively selected it for nest greenery. This pine species is characterized by a high level of aromatic compounds, particularlyβ‐pinene, highly repellent for insects. The amount of pine greenery in the nest was correlated with a lower presence of ectoparasites in that nest (blow fly larvae,Protocalliphora), and higher breeding success of pairs. We discuss whether a coevolutionary process between parasites and their hosts has guided a particular nesting strategy of the eagles to improve their breeding success.
Mutual mate choice in crayfish: large body size is selected by both sexes, virginity by males only
Authors: Aquiloni L. , Gherardi F. 
Published: September 2007

AbstractMate choice is often assumed to be a prerogative of females because of their putatively larger reproductive investment than males. However, recent evidence suggests that spermatogenesis is far from being limitless and that males show a high selectivity towards their mates, thus maximizing their reproductive success. We investigated mutual mate choice in the crayfishProcambarus clarkiithrough two experiments. The first experiment explored the effects of body size, chelar size and chelar symmetry and social status of a potential partner. In the second experiment, we asked whether this species can discriminate between partners of the same body size but with different mating status. We used a binary choice test paradigm, in which two ‘targets’ with opposing characteristics were simultaneously presented to a test animal, the ‘chooser’. The results showed thatP. clarkiimales are more selective than expected. Similar to the other sex, they were significantly attracted by targets with large body sizes, but not by individuals with larger and symmetric chelae or with a dominant status. An inter‐sexual difference was found in the second experiment, in which only males seemed to select virgin potential mates. The several adaptive explanations for these preferences, still under debate, are finally discussed.
Development of foraging behavior in juvenile northern elephant seals
Authors: Zeno R. L. , Crocker D. E. , Hassrick J. L. , Allen S. G. , Costa D. P. 
Published: September 2007

AbstractRapid development of foraging ability is critical for phocids. In northern elephant seals Mirounga angustirostris, juvenile survivorship is low compared with adults and foraging difficulties are potentially associated with increased mortality. At Año Nuevo, California, foraging behavior of nine juvenile females during their third foraging migration and five juvenile females on their fourth foraging migration were documented using a variety of commercially available and custom time depth recorders. Foraging success, diving ability, time at depth, bouts of behavior and body composition changes were compared between trips to sea. There were no significant differences in foraging success measured as mass gain between the third and fourth trips to sea. There were differences in how energy was deposited between lean and adipose tissue compartments. Diving ability developed between trips to sea, reflected in significant increases in depth, dive duration and bottom time. Development also occurred within trips to sea. Depth, dive duration and bottom time increased with time at sea. Aerobic capacity appears to increase between the third and fourth trip, with a significantly increased percentage of total time submerged and a significantly lower diving rate. All juveniles on the fourth trip and four out of nine juveniles on the third trip followed marked diel patterns, foraging deep during the day and shallow at night. Like adults, juveniles appeared to stay primarily aerobic with surface intervals independent of dive durations. These results confirm that female juvenile northern elephant seals undergo important developmental changes in foraging behavior between the third and fourth trip, but these changes do not significantly impact foraging success.
Philopatry and natal dispersal in a sedentary population of western marsh harrier
Authors: Sternalski A. , Bavoux C. , Burneleau G. , Bretagnolle V. 
Published: September 2007

AbstractDispersal is a key life‐history trait because it influences population dynamics and population genetic structure. From a behavioural perspective, the study of natal dispersal requires some understanding of the mechanisms that affect individual movements, because movements of an animal form a path that is continuous throughout its life. Our aim was to investigate juvenile dispersal strategies in the western marsh harrierCircus aeruginosus, between fledging and first breeding attempt (from 1 to 4 years later, depending on the sex and individual). Using radio tracking, we monitored dispersing juvenile harriers and their home‐range size variations within a sedentary population in central western France from 2001 to 2007. Juvenile dispersal strategy was mainly characterized by a very high natal philopatry (i.e. birds that remained within the study area) and short‐distance dispersal. All but one bird (out of 39) remained within the study area between their first winter and their first spring, and 96.0% during their first spring. The distance moved at 2 years of age was significantly larger for males than for females (3800±sd3593 m and 935±sd481 m for seven males and six females, respectively), in contrast to most bird species studied so far. Home‐range size was not sex biased and significantly decreased with age. In addition, non‐breeding birds had larger home ranges (1603±sd2128 ha) than breeders (349±sd185 ha). Using data obtained from other populations, juvenile marsh harrier dispersal strategies appeared to be determined by migratory status (migratory birds dispersing farther) and demographic parameters (juvenile survival or fecundity).
The role of health consciousness, food safety concern and ethical identity on attitudes and intentions towards organic food
Authors: Michaelidou Nina , Hassan Louise M. 
Published: September 2007

AbstractThe paper examines the roles of health consciousness, food safety concern and ethical self‐identity in predicting attitude and purchase intention within the context of organic produce. A conceptual model is derived and tested via structural equation modelling. Findings indicate food safety as the most important predictor of attitude while health consciousness appears to be the least important motive in contrast to findings from some previous research. In addition, ethical self‐identity is found to predict both attitudes and intention to purchase organic produce, emphasizing that respondents' identification with ethical issues affects their attitude and subsequent consumption choices.
Evaluation of commercial weight‐loss programmes in Greece
Authors: Grammatikopoulou Maria G. , Panayiotoglou Angeliki , Hassapidou Maria 
Published: September 2007

AbstractThe objective was to evaluate the success of commercial weight‐loss programmes and define areas that need development in the Greek weight‐loss industry. A total of 973 people (217 men and 756 women), all customers of the same slimming company, participated in the study. Subjects were enrolled in a weight‐loss programme that lasted for a year. Body weight (BW) and height was measured at baseline and at the end of the treatment. For 470 participants, BW was also measured 1 year after the end of the programme (follow‐up). We evaluated alterations in initial and final BW, as well in body mass index (BMI) categorization. Sixty‐six women were allowed to start the programme, although underweight and 47.3% of the participants enrolled with a normal BMI. At the end of the treatment, 124 persons were underweight. Most subjects with a BMI >40 at baseline remained at the same BMI category after the implementation of the programme; however, this was a small group (n = 8). Most subjects (67.3%) remained at the same BMI category after treatment. One year after the completion of the programme, all participants presented significantly higher BW compared with that at the end of the programme. Results suggest that economic gaining is the priority for weight‐loss companies in Greece. The employed staff in its majority is neither nutritionists, nor dieticians, but employees well‐trained on marketing, who are being paid accordingly to their sales. Thus, many customers who are either underweight or of normal BW are enrolled in weight‐loss programmes for the company's financial benefit and are sold programmes with the use of appliances of questionable scientific validation.
Body scanning as a new anthropometric measurement tool for health‐risk assessment
Authors: Heuberger Roschelle , Domina Tanya , MacGillivray Maureen 
Published: September 2007

AbstractThe study explored the accuracy of body measurements gathered from trained observers employing a tape measure compared with those generated by the 3D body scanner. Tape measurements of body circumferences are routinely used for assessing future risk to health, as increased circumference of the waist vs. hip is associated with greater chronic disease rates later in life. Findings indicated that significant differences existed between circumference measurements calculated by the body scanner and those which were gathered from a tape measure. This research indicates that utilization of the body scanner as an anthropometric measurement tool for the assessment of health risk has tremendous benefits.
Activation of double‐stranded RNA‐activated protein kinase by mild impairment of oxidative metabolism in neurons
Authors: Wang Xin , Fan Zhiqin , Wang Bingwei , Luo Jia , Ke Zun‐Ji 
Published: September 2007

AbstractThiamine (vitamin B1) deficiency (TD) causes mild and chronic impairment of oxidative metabolism and induces neuronal death in specific brain regions. The mechanisms underlying TD‐induced cell death, however, remain unclear. The double‐stranded RNA‐activated protein kinase (PKR), has been well known for its anti‐viral function. Upon activation by viral infection or double‐stranded RNA, PKR phosphorylates its substrate, the α‐subunit of eukaryotic initiation factor‐2 (eIF2α), leading to inhibition of translation. In response to various cellular stresses, PKR can also be stimulated by its protein activators, or its mouse homologue, PKR activator (RAX). We demonstrated that TD in mice induced phosphorylation of PKR at Thr446 and Thr451 and phosphorylation of eIF2α at Ser51 in the cerebellum and the thalamus. TD caused phosphorylation of PKR and eIF2α, as well as nuclear translocation of PKR in primary cultures of cerebellar granule neurons. PKR phosphorylation is necessary for its nuclear translocation because TD failed to induce nuclear translocation of a T446A/T451A PKR mutant. Both PKR inhibitor and dominant‐negative PKR mutant protected cerebellar granule neurons against TD‐induced cell death. TD promoted the association between RAX and PKR. Antioxidant vitamin E dramatically decreased the RAX/PKR association and ameliorated TD‐induced cell death. Our results indicate that TD‐induced neuronal death is at least partially mediated by the activation of PKR.