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PubMed2001

Genetic mapping of the dominant albino locus in rainbow trout (Oncorhynchus mykiss).

Albinism in animals is generally a recessive trait, but in Japan a dominant oculocutaneous albino (OCA) mutant strain has been isolated in rainbow trout (Oncorhyncus mykiss). After confirming that this trait is not due to a tyrosinase gene mutation that causes OCA1 (tyrosinase-negative OCA), we combined the amplified fragment length polymorphism (AFLP) technique with bulked segregant analysis (BSA) to map the gene involved in dominant oculocutaneous albinism. Four AFLP markers tightly linked to the dominant albino locus were identified. One of these markers was codominant and we have it converted into a GGAGT-repeat microsatellite marker, OmyD-AlbnTUF. Using this pentanucleotide-repeat DNA marker, the dominant albino locus has been mapped on linkage group G of a reference linkage map of rainbow trout. The markers identified here will facilitate cloning of the dominant albino gene in rainbow trout and contribute to a better understanding of tyrosinase-negative OCA in animals.

Albinism, Oculocutaneous↗
PubMed1999

Optimal target site for slow AV nodal pathway ablation: possibility of predetermined focal mapping approach using anatomic reference in the Koch's triangle.

INTRODUCTION: Although a variety of ablation techniques have been developed in the treatment of atrioventricular nodal reentrant tachycardia (AVNRT), there have been few reports discussing the location of the optimal target site. Based on our early experiences, we hypothesized that radiofrequency (RF) current applied around the upper margin of the coronary sinus ostium (UCSO) results in the most effective and safe treatment of AVNRT. METHODS AND RESULTS: To confirm our hypothesis, the efficacy of RF currents applied around the UCSO guided by local electrograms in 59 patients (group B: predetermined focal mapping approach) were compared with the outcomes in 60 other patients previously treated with the standard electrogram-guided mapping method starting around the lower margin of the coronary sinus ostium (group A). The precise location of ablation catheters at successful sites (S) was also evaluated. All the patients were successfully treated without complications. Significantly fewer RF pulses and lower energies were needed in group B patients (mean RF applications: 4.3 vs 1.4 applications, mean total energy delivered: 4,699 vs 2,236 J in groups A and B, respectively, P < 0.01). Detailed analyses of the anatomical locations of S using CS venography in group B patients who received only a single RF application (46 patients) revealed that the distance between His and S varied according to the length of Koch's triangle, while that between S and UCSO was relatively constant. In 85 % of these 46 patients, S was located within 5 mm above and below the level of the UCSO. CONCLUSION: RF applications around the UCSO guided by local electrograms yielded excellent outcomes in AVNRT patients with wide varieties in the size of Koch's triangle. The optimal target site was located within 5 mm above and below the level of UCSO along the tricuspid annulus.

Atrioventricular Node↗
PubMed2000

Systemic hypothermia following spinal cord compression injury in the rat: an immunohistochemical study on MAP 2 with special reference to dendrite changes.

Systemic hypothermia has been shown to exert neuroprotective effects in experimental ischemic CNS models caused by vascular occlusions. The present study addresses the question as to whether systemic hypothermia has similar neuroprotective qualities following severe spinal cord compression trauma using microtubule-associated protein 2 (MAP2) immunohistochemistry combined with the avidin-biotin-peroxidase complex method as marker to identify neuronal and dendritic lesions. Fifteen rats were randomized into three equally sized groups. One group sustained thoracic laminectomy, the others severe spinal cord compression trauma of the T8-9 segment. The control group contained laminectomized animals submitted to a hypothermic procedure in which the esophageal temperature was reduced from 38 degrees C to 30 degrees C. The two trauma groups were either submitted to the same hypothermic procedure or kept normothermic during the corresponding time. All animals were sacrificed 24 h following the surgical procedure. The MAP2 immunostaining in the normothermic trauma group indicated marked reductions in MAP2 antigen in the cranial and caudal peri-injury zones (T7 and T10, respectively). This reduction was much less pronounced in the hypothermic trauma group. In fact, the MAP2 antigen was present in almost equally sized areas in both the hypothermic groups independent of previous laminectomy alone or the addition of trauma. Our study thus indicates that hypothermia has a neuroprotective effect on dendrites of rat spinal cords subjected to compression trauma.

Animals↗
PubMed2026

Long-read Sequences Mapped to a Complete Reference Genome Uncover Uncaptured Structural Variants across the Beta-globin Cluster in Africans with Sickle Cell Disease.

African genomes are marked by extensive complexity in the number and distribution of variants, yet remain under-represented in genetic databases and the human reference genome. This gap in representation limits the broad application of genomic medicine. Sickle cell disease (SCD) - one of the most common monogenic diseases - has its highest prevalence in Africa, and variation in disease severity has consistently been linked to the beta-globin locus, including levels of fetal hemoglobin (HbF). Modulation of HbF is central to current SCD gene therapies; however, the inherent complexity and variation at the locus in African genomes presents a challenge to translating these advances to Africa. Here, we align long-read single molecule sequences (LRS) targeted to the beta-globin region to the hg38 and T2T-CHM13v2 genome references in 40 individuals with SCD, predominantly recruited from three African countries. We demonstrate that the expanded T2T-CHM13v2 reference sequence at this locus reduces Structural Variant (SV) calls by 70% and uncovers uncaptured single nucleotide variants (SNVs). Across the cluster we report 343 SVs and 196 SNVs that have not been previously reported, including in LRS data from the All of Us project. By including African populations from ethnolinguistic groups that have not been previously surveyed we improve variant resolution and bolster evidence for observed variation. Finally, we identify a common &#x223c;4kb insertion locus overlapping the HBB promoter among individuals with high HbF. These results demonstrate the utility of combining a comprehensive reference genome with LRS in African populations to uncover genomic variation at disease-associated loci.

SNV↗
PubMed2001

Development of the Canadian beef reference herd for gene mapping studies.

A project to map quantitative trait loci (QTL), in beef cattle using a full-sib design was initiated using six Bos taurus breeds. Embryo transfer was used in a large scale, short timeframe experiment to develop this herd for gene mapping. Full-sib families allowed for genetic information to be followed through both the sire and the dam and for both parents to be slaughtered so that carcass quality data could also be obtained from both of them at close to typical slaughter ages. Repeatability of response to superovulation was significant among the 3 flushes per female. Response to superovulation was negatively correlated with backfat of the donor. Crossbred embryos were found to have higher survival than purebred embryos.

Adipose Tissue↗
PubMed1999

Magnetic fields mapping with the phase reference method.

A simple method for imaging the magnetic field produced by arbitrary current distributions is presented. The method is based on the use of a phase reference image and can be easily adapted to any standard magnetic resonance imaging scanner. Examples are given to application to gradient coil characterization and quantitative field measurements.

Magnetic Resonance Imaging↗
PubMedDate not supplied

Postmortem cryosectioning as an anatomic reference for human brain mapping.

This study examined the densitometric and topographic detail of high resolution 3D digital postmortem cryosectioned brain images. Anatomic image data and histology from cryosectioned human brain were compared to in vivo MRI for the ability to delineate neuroanatomic structure. 3D surface reconstructions in the Talairach and Tournoux atlas ("Co-planar stereotaxic atlas of the human brain", Thieme, New York, 1988) coordinate system enabled morphometric comparisons for a representative sample of neuroanatomic structures. Spatial resolution of cryosection images averaged 200 and 170 microns/pixel for whole head and brain, respectively, and 40 microns/pixel for isolated the brain regions. Anatomic detail was far superior to MRI, particularly in deep subcortical regions such as the basal ganglia and in mesencephalic nuclei and tracts. Digital repositioning in the Talairach coordinate system enabled efficient structure localization and morphometric comparison. Histology from collected tissue sections provided cytologic detail that could be mapped to its approximate 3D context. This approach permits comprehensive morphometric analyses necessary for an anatomic framework to a digital atlas of the human brain.

Aged↗
PubMed1978

The use and limitations of chiasma scoring with reference to human genetic mapping.

Human chiasma data are summarized, and some preliminary new observations in fetal oocytes are presented. Male chiasma data may give reliable estimates of genetic lengths, both for individual chromosome arms and for the total autosomal complement. Female data are as yet less accurate and give information according to chromosome group only. Movement of chiasmata before they can be reliably scored is unlikely. In both sexes, chiasmata are seen to be clustered along the length of the chromosomes, which may reflect crossingover interference and a tendency for crossingover to more often take place in certain chromosome segments; there are some indications of sex differences in these preferences.

Chromatids↗
PubMed1992

Microcarcinoma of the endometrium: a mapping study with special reference to cytologic atypia in the endometrium.

In order to elucidate the basis for the development of an endometrial carcinoma, we looked for microcarcinomas measuring < 5 mm in greatest diameter, and studied their histologic characteristics and those of the neighboring endometrium. Using serial step section methods, two microcarcinomas were detected. A microcarcinoma was found in one of 14 uteri resected for atypical hyperplasia and the other was found in one of 114 uteri resected for endometrial carcinoma. The neighboring endometrium of the former was adenomatous and had atypical hyperplasia and that of the latter was atrophic and contained atypical glands characterized by cytologic atypia and not by architectural changes. The findings may suggest endometrial carcinomas to have two pathogenetic forms: a carcinoma associated with hyperplasia and occurring in premenopausal women, a second carcinoma associated with atrophic endometrium and occurring in postmenopausal women. Atypical glands in atrophic endometria may indicate that endometrial specimens from postmenopausal women should be carefully screened for cytologic atypia.

Adenocarcinoma↗
PubMed2003

Characterization of sexual dimorphism in the human corpus callosum.

Despite decades of research, there is still no agreement over the presence of gender-based morphologic differences in the human corpus callosum. We approached the problem using a highly precise computational technique for shape comparison. Starting with a prospectively acquired sample of cranial MRIs of healthy volunteers (age ranges 18-84), the variations of individual callosa are quantified with respect to a reference callosum shape in the form of Jacobian determinant maps derived from the geometric transformations that map the reference callosum into anatomic alignment with the subject callosa. Voxelwise t tests performed over the determinant values demonstrated that females had a larger splenium than males (P < 0.001 uncorrected for multiple comparisons) while males possessed a larger genu (P < 0.001). In addition, pointwise Pearson plots using age as a correlate showed a different pattern of age-related changes in male and female callosa, with female splenia tending to expand more with age, while the male genu tended to contract. Our results demonstrate significant morphologic differences in the corpus callosum between genders and a possible sex difference in the neuro-developmental cycle.

Adolescent↗
PubMed2005

Chromosomal phylogeny and geographical divergence in the Drosophila bipectinata complex.

We have prepared reference polytene photographic maps as a standard sequence for the Drosophila bipectinata complex using structurally homozygous flies derived from a stock of Drosophila parabipectinata from Brunei, Borneo, in 1971. We found 87 inversions in the D. bipectinata complex and described their breakpoints on the reference maps. Only 2 arrangements were shared interspecifically: 2R-AB was shared with 3 species, D. parabipectinata, D. bipectinata, and Drosophila malerkotliana, and 3L-A was found in 2 species, D. parabipectinata and D. malerkotliana. The 2 subspecies of D. malerkotliana and the 2 subspecies of Drosophila pseudoananassae shared half of the total gene arrangements detected in each species. The number of different inversions found between species in the complex ranges from 7 (between D. parabipectinata and D. malerkotliana) to at least 24 (between D. bipectinata and D. pseudoananassae). On the basis of the characteristic differences of their gene arrangements, we propose a reliable chromosomal phylogeny of the D. bipectinata complex.

Animals↗
PubMed2004

Early development of scaling ability.

The map is a small-scaled version of the space it represents. It has been argued that children have difficulty interpreting maps because they do not understand scale relations. Recent research has shown that even preschoolers can solve problems that involve scaling in one dimension. This study examined whether early scaling ability extends to tasks involving two-dimensional maps and referent spaces of different sizes. Results showed that about 60% of the 4-year-olds and 90% of the 5-year-olds tested used distance information presented on a map to locate an object in a two-dimensional spatial layout. Children had more difficulties in solving mapping tasks with a larger referent space. This decrease in accuracy as a function of space size on the mapping task was greater than would have been expected on the basis of performance on a parallel nonmapping task. The results are discussed in terms of their implications for the mechanisms underlying early scaling ability.

Aptitude↗
PubMed2006

Online analysis method for intrinsic signal optical imaging.

The intrinsic optical imaging technique has been widely applied for the visualization of functional maps in the sensory cortices of mammals. Many current studies refer this mapping in order to focus thereafter on particular features, at some particular locations: a fast and accurate mapping is therefore required. However, even during a successful experiment, the recorded raw data are usually contaminated by some kinds of noise that cannot necessarily be averaged out over the trials. An adequate image data analysis method has to be applied to extract signals closely related neural activities in response to presented stimuli. Thus far two different analysis methods could be adopted: the band-pass filtering and the GIF method [Yokoo T, Knight BW, Sirovich L. An optimization approach to signal extraction from noisy multivariate data. NeuroImage 2001:14;1309-26]. While the latter one is very efficient but requires the whole data in order to maximize the signal to noise ratio, the simple band-pass filtering technically reaches its limits very quickly. Here we propose another filtering method based on the polynomial subtraction of spatially smoothly modulated components. This simple method can visualize well-organized iso-orientation domains of the cat visual cortex with reliability similar to more sophisticated ones while allowing an online visualization of the clean data.

Action Potentials↗
PubMed2003

The neural basis of predicate-argument structure.

Neural correlates exist for a basic component of logical formulae, PREDICATE(x). Vision and audition research in primates and humans shows two independent neural pathways; one locates objects in body-centered space, the other attributes properties, such as colour, to objects. In vision these are the dorsal and ventral pathways. In audition, similarly separable "where" and "what" pathways exist. PREDICATE(x) is a schematic representation of the brain's integration of the two processes of delivery by the senses of the location of an arbitrary referent object, mapped in parietal cortex, and analysis of the properties of the referent by perceptual subsystems. The brain computes actions using a few "deictic" variables pointing to objects. Parallels exist between such nonlinguistic variables and linguistic deictic devices. Indexicality and reference have linguistic and nonlinguistic (e.g., visual) versions, sharing the concept of attention. The individual variables of logical formulae are interpreted as corresponding to these mental variables. In computing action, the deictic variables are linked with "semantic" information about the objects, corresponding to logical predicates. Mental scene descriptions are necessary for practical tasks of primates, and preexist language phylogenetically. The type of scene descriptions used by nonhuman primates would be reused for more complex cognitive, ultimately linguistic, purposes. The provision by the brain's sensory/perceptual systems of about four variables for temporary assignment to objects, and the separate processes of perceptual categorization of the objects so identified, constitute a pre-adaptive platform on which an early system for the linguistic description of scenes developed.

Afferent Pathways↗
PubMed2003

Candidate defense genes from rice, barley, and maize and their association with qualitative and quantitative resistance in rice.

Candidate genes involved in both recognition (resistance gene analogs [RGAs]) and general plant defense (putative defense response [DR]) were used as molecular markers to test for association with resistance in rice to blast, bacterial blight (BB), sheath blight, and brown plant-hopper (BPH). The 118 marker loci were either polymerase chain reaction-based RGA markers or restriction fragment length polymorphism (RFLP) markers that included RGAs or putative DR genes from rice, barley, and maize. The markers were placed on an existing RFLP map generated from a mapping population of 116 doubled haploid (DH) lines derived from a cross between an improved indica rice cultivar, IR64, and a traditional japonica cultivar, Azucena. Most of the RGAs and DR genes detected a single locus with variable copy number and mapped on different chromosomes. Clusters of RGAs were observed, most notably on chromosome 11 where many known blast and BB resistance genes and quantitative trait loci (QTL) for blast, BB, sheath blight, and BPH were located. Major resistance genes and QTL for blast and BB resistance located on different chromosomes were associated with several candidate genes. Six putative QTL for BB were located on chromosomes 2, 3, 5, 7, and 8 and nine QTL for BPH resistance were located to chromosomes 3, 4, 6, 11, and 12. The alleles of QTL for BPH resistance were mostly from IR64 and each explained between 11.3 and 20.6% of the phenotypic variance. The alleles for BB resistance were only from the Azucena parent and each explained at least 8.4% of the variation. Several candidate RGA and DR gene markers were associated with QTL from the pathogens and pest. Several RGAs were mapped to BB QTL. Dihydrofolate reductase thymidylate synthase co-localized with two BPH QTL associated with plant response to feeding and also to blast QTL. Blast QTL also were associated with aldose reductase, oxalate oxidase, JAMyb (a jasmonic acid-induced Myb transcription factor), and peroxidase markers. The frame map provides reference points to select candidate genes for cosegregation analysis using other mapping populations, isogenic lines, and mutants.

Aldehyde Reductase↗
PubMed1981

Multiple genetic changes can occur in the oral poliovaccines upon replication in humans.

Poliovirus isolates of serotypes 2 and 3 from patients whose paralytic poliomyelitis cases were classified as oral vaccine-associated were analysed by oligonucleotide mapping of the virus genomes and by polyacrylamide gel electrophoresis of the virus proteins. Oligonucleotide maps of all isolates were similar to the maps of the corresponding oral vaccine strain. No two isolates gave identical maps. Most maps differed from that of the vaccine strain by at least one oligonucleotide spot. Maps of some isolates revealed numerous differences, indicating that multiple (greater than 100) genetic changes had occurred in the vaccine virus genomes during replication in one or two individuals. In contrast, maps of some neural tissue isolates showed minimal differences from the reference vaccine maps, raising the possibility that neurovirulence may be restored by a small number of genetic changes. For many isolates, changes were also detected in the mobilities of processing rates of the virus proteins.

Adult↗