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Consensus and comprehensive linkage maps of bovine chromosome 24.

This study describes development of a consensus genetic linkage map of bovine chromosome 24 (BTA24). Eight participating laboratories contributed data for 58 unique markers including a total of 25 409 meioses. Eighteen markers, which were typed in more than one reference population, were used as potential anchors to generate a consensus framework map. The framework map contained 16 loci ordered with odds greater than 1000:1 and spanned 79.3 cM. Remaining markers were included in a comprehensive map relative to these anchors. The resulting BTA24 comprehensive map was 98.3 cM in length. Average marker intervals were 6.1 and 2.5 cM for framework and comprehensive maps, respectively. Marker order was generally consistent with previously reported BTA24 linkage maps. Only one discrepancy was found when comparing the comprehensive map with the published USDA-MARC linkage map. Integration of genetic information from different maps provides a high-resolution BTA24 linkage map.

Animals↗

Virtual 10-20 measurement on MR images for inter-modal linking of transcranial and tomographic neuroimaging methods.

It is important to create a link between stereotaxic coordinates and head-surface-based positioning systems in order to share data between tomographic and transcranial brain mapping studies. In our previous studies, we established the probabilistic correspondence of the international 10-20 positions to the standard stereotaxic coordinate systems and made a reference database. However, its expansion required the physical marking of the 10-20 positions and the subsequent acquisition of MR images. To avoid such tedious procedures, we developed a virtual 10-20 measurement algorithm that can be applied to re-analyze any structural MR image that covers the whole head. As in the physical 10-20 measurements, with the reference points given, the algorithm automatically determines each 10-20 position step by step. Using the virtual 10-20 measurement method, we re-analyzed the MR images of 17 healthy subjects for whom we had determined 10-20 positions by physical marking in our previous study. The acquired 10-20 positions were normalized to the Montreal Neurological Institute (MNI) stereotactic coordinates and compared with the positions previously determined by physical measurements. 10-20 positions determined using the virtual and physical methods were roughly consistent. Average standard deviations for virtual and physical methods were 7.7 mm and 9.0 mm, respectively. There was a systematic shift in the virtual method, likely due to the absence of hair interference. We corrected the shift with affine transformation. The virtual 10-20 measurement method proved to be an effective alternative to physical marking. This method will serve as an essential tool for expanding the reference database and will further strengthen the link between tomographic and transcranial brain mapping methods.

Adult↗

The role of HIL1 in strain-level adhesion and immune recognition in Debaryomyces hansenii.

UNLABELLED: Strains of food-derived microbes can become facultative pathogens in susceptible human hosts. Surprisingly, we previously isolated Debaryomyces hansenii, a yeast common in fermented foods, from Crohn disease (CD) ulcers, raising questions about its strain-specific traits that influence host interactions. Here, we further developed the genetic tractability of D. hansenii and identified a single adhesin, Hil1, as a major determinant of colony morphology, biofilm formation, and immune targeting in CD patients. We used Agrobacterium tumefaciens-mediated transformation to perform a forward genetic screen in a food-derived reference strain. We isolated mutants that converted from a wrinkled, biofilm-forming phenotype to a smooth, non-adherent phenotype characteristic of CD patient isolates. Mapping of multiple insertion sites showed a disrupted subtelomeric Hyr/Iff-like adhesin gene, herein referred to as HIL1. CRISPR-Cas9-mediated deletion of HIL1 recapitulated the mutant phenotype, demonstrating that HIL1 was necessary for biofilm formation and high cell-surface hydrophobicity phenotypes. To contextualize these findings, we performed comparative genomics on a D. hansenii strain collection to assess allelic variation in the number of HIL1 tandem repeats. Longer alleles in food strains correlated with increased biofilm formation, while CD-isolated strains contained shorter HIL1 alleles and reduced binding to surfaces. Serology profiling showed that HIL1 was a direct antigenic target of circulating immunoglobulin G (IgG) in CD patients. Together, these results suggest Hil1 is a key, strain-variable adhesin shaping fungal surface properties and host immune recognition. This work establishes D. hansenii as a genetically tractable system and shows how adhesin polymorphisms may influence fungal behavior in food and disease contexts. IMPORTANCE: Debaryomyces hansenii is a yeast that is common in food and is generally recognized as safe for human consumption, though recently it has been identified within diseased regions of the intestine in Crohn disease patients. A current need is to determine the genetic and phenotypic differences between safe food isolates and isolates from human Crohn disease patient ulcers. Here, we used a loss-of-function genetic screen and identified HIL1, an adhesin that we found mediates cellular adhesion in many food strains but not in patient strains. We identified circulating HIL1-reactive antibodies in patients with Crohn disease, indicating that food strains can be a target of host immune responses through Hil1.

Humans↗

Lesion segmentation and manual warping to a reference brain: intra- and interobserver reliability.

The study of subjects with acquired brain damage has been an invaluable tool for exploring human brain function, and the description of lesion locations within and across subjects is an important component of this method. Such descriptions usually involve the separation of lesioned from nonlesioned tissue (lesion segmentation) and the description of the lesion location in terms of a standard anatomical reference space (lesion warping). The objectives of this study were to determine the sources and magnitude of variability involved in lesion segmentation and warping using the MAP-3 approach. Each of two observers segmented the lesion volume in ten brain-damaged subjects twice, so as to permit pairwise comparisons of both intra- and interobserver agreement. The segmented volumes were then warped to a reference brain using both a manual (MAP-3) and an automated (AIR-3) technique. Observer agreement between segmented and warped volumes was analyzed using four measures: volume size, distance between the volume surfaces, percentage of nonoverlapping voxels, and percentage of highly discrepant voxels. The techniques for segmentation and warping produced high agreement within and between observers. For example, in most instances, the warped volume surfaces created by different observers were separated by less than 3 mm. The performance of the automated warping technique compared favorably to the manual technique in most subjects, although important exceptions were found. Overall, these results establish benchmark parameters for expert and automated lesion transfer, and indicate that a high degree of confidence can be placed in the detailed anatomical interpretation of focal brain damage based upon the MAP-3 technique.

Brain Damage, Chronic↗

Genetic polymorphism and recombination in the subtelomeric region of chromosome 14q.

Subtelomeric regions of human chromosomes are the sites of increased meiotic recombination and have a male-to-female recombination ratio that is higher than elsewhere in the genome. We isolated two novel, polymorphic CA repeat markers from the distal part of the immunoglobulin heavy chain gene cluster, approximately 90 and 200 kb from the telomere of chromosome 14q. The 14q telomere was unambiguously located by physical mapping of telomeric YACs and Bal31 exonuclease digestion of genomic DNA. We then constructed haplotypes using genotype data from these markers and data from sCAW1 (D14S826) for use as a highly polymorphic genetic marker. Linkage analysis using the 40 pedigree CEPH reference panel and genotype data from these and other loci physically mapped to the terminal 1.5 Mb of chromosome 14q revealed an apparent increase in meiotic recombination within this region, relative to the average rate for the genome. Further, we found that recombination was higher in females than in males, indicating that the subtelomeric region of 14q differs from other human subtelomeric regions.

Chromosomes, Artificial, Yeast↗

Event-related potential maps depend on prestimulus brain electric microstate map.

The brain functional microstate immediately before each of about 3000 identical tone stimuli was classified using extracted reference-free descriptors (locations of maximal and minimal potential) of the landscape of the brain's momentary electric field, in 8 volunteers. Six prestimulus microstate map classes occurred more than 30 times in each subject, and were clustered into two map class types (totals of 242 and 283 cases, respectively, on the average per subject). Event-related potential (ERP) map series were averaged for each subject and prestimulus map class. Map descriptors were extracted from the ERP maps at times of maximal Global Field Power during the component time windows N100, P200 and P330. Discriminant functions were estimated; for the maps of N100 and P330, the discriminant scores differed significantly between the maps associated with the two prestimulus map class types (paired t-tests, df = 7, p = .014 and p = .005, respectively). The dominant axis of the poststimulus class type II ERP maps deviated clockwise from that of the type I ERP maps in all components. We conclude that subtle changes in the brain's spontaneous momentary functional microstate (as classified by spatial descriptors of a single map) influence event-related information processing by the brain, following common rules over subjects.

Adult↗

Immunological and genomic analyses of two serotypes of avian paramyxovirus isolated from wild ducks in Japan.

A total of 11 avian paramyxoviruses isolated from migrating feral ducks in Niigata, Japan, were characterized by serological and genomic analyses. Hemagglutination inhibition and immuno-double-diffusion tests with antisera specific for the isolated hemagglutinin-neuraminidase polypeptides of reference strains indicated that, of these, eight isolates possessed hemagglutinin-neuraminidase antigen closely related to that of duck/Hong Kong/D3/75, and the remaining three isolates possessed antigen closely related to that of duck/Hong Kong/199/77. RNA analysis of the eight isolates identified serologically as duck/Hong Kong/D3/75 by oligonucleotide mapping revealed that these isolates were genetically very similar to each other but different from the reference strain and isolates reported previously. The oligonucleotide maps of duck/Hong Kong/199/77-like isolates appeared to be very similar to each other, suggesting the same origin, but not to the duck/Hong Kong/199/77 virus.

Animals↗

New ribosomal RNA gene locations in Gossypium hirsutum mapped by meiotic FISH.

In this study we have mapped newly identified rDNA loci in Gossypium hirsutum. Four new minor 18S-26S rDNA loci, in addition to the sites previously identified, were mapped using fluorescence in situ hybridization (FISH) to heterozygous translocation (NT) quadrivalents (IVs). The newly detected 18S-26S rDNA loci were mapped to the right arms of chromosomes 8, 9, 15, 17, 19, 20, and 23 and the left arms of chromosomes 5, 11, 12, and 14. Using the rDNA loci as common reference points, we detected several erroneous arm assignments in the previously published map of NT breakpoints. The data are summarized in the form of an integrated map for all 17 known rDNA loci, relative to centromeres, telomeres, and NT breakpoints. This information will facilitate future locus-specific research on rRNA gene evolution and function.

Chromosome Mapping↗

Functional genes mapped on the chicken genome.

Microsatellite polymorphisms are finding increasing use in genetics. In addition to the random isolation of microsatellite markers, such markers can also be developed from sequences already present in public domain databases. An advantage of public domain databases is that these microsatellites are known to be located within or close to identified functional genes. In this study the GenBank and EMBL databases were screened for microsatellite markers and primers were defined for amplification. Subsequently, these markers were tested on a panel of five different birds from layer and broiler stocks and on the international reference families: the East Lansing reference family and the Compton reference family. Of the 33 loci tested, 25 were polymorphic on the test panel and from these 25, 14 were polymorphic in one or both reference families. Twelve of the 14 loci that could be mapped fell into previously defined linkage groups. The other two markers were not linked. Because three of the loci had previously been mapped to specific chromosomes by in situ hybridization, linkage groups E6 and C3 could be assigned to chromosome 6, E5 and C17 to chromosome 4 and E21 to one of the microchromosomes.

Animals↗

Hemispheric mapping of secondary somatosensory cortex in the rat.

This study used high-resolution hemispheric mapping of somatosensory evoked potentials to determine the number and organization of secondary somatosensory areas (SII) in rat cortex. Two areas, referred to as SII and PV (parietoventral), revealed complete (SII) or nearly complete (PV) body maps. The vibrissa and somatic representation of SII was upright, rostrally oriented, and immediately lateral to primary somatosensory cortex (SI), with a dominant face representation. Vibrissa representations in SII were highly organized, with the rows staggered rostrally along the mediolateral axis. Area PV was approximately one fifth the size of SII, and located rostral and lateral to auditory cortex. PV had a rostrally oriented and inverted body representation that was dominated by the distal extremities, with little representation of the face or vibrissae. These data support the conclusion that in the rat, as in other species, SII and PV represent anatomically and functionally distinct areas of secondary somatosensory cortex.

Afferent Pathways↗

Multiple interactive residues of recognition: elucidation of discontinuous epitopes with linear peptides.

The discontinuous epitopes of beta-factor XIIa for three mAbs were mapped by a linear peptide-based immunoblotting technique, referred to as multiple interactive residues of recognition. The Abs were incubated with a set of overlapping synthetic peptides, deduced from the cDNA sequences of beta-factor XIIa, on a polymer membrane, and the signal was amplified by an ECL assay. Several discrete sequences of the protein were recognized by each Ab. The recognized peptides were further characterized using alanine substitution analogues and peptides of different lengths. The discontinuous epitopes found for each Ab were formed by several peptides and were composed of 20 to 31 residues. The sequence FLQEA was recognized by all three Abs and was the immunodominant peptide. Abs 201/9 and 2/15 bound to very similar discontinuous sequences, but with subtle differences. The sequences 76RLHEAFSP83, 88HDLALLRLQE97, 178GFLEG182, 146FLQEA150, and 237IRE239 formed the epitope for mAb 201/9, whereas 76RLHEAFSP83, 90LALLRLQE97, 146FLQEA150, and 235AWIREHT241 formed the epitope for Ab 2/15. The third Ab 202/7 recognized the sequences 79EAFSP83, 93LRLQE97, 133WGHQF137, and 146FLQEA150. We suggest that these sequences represent the sites to which the Abs bind. This procedure provides a sensitive and convenient tool to elucidate discontinuous epitopes for the binding of Abs, receptor ligand-binding sites, or enzyme inhibitor binding sites.

Amino Acid Sequence↗

A random model approach to interval mapping of quantitative trait loci.

Mapping quantitative trait loci in outbred populations is important because many populations of organisms are noninbred. Unfortunately, information about the genetic architecture of the trait may not be available in outbred populations. Thus, the allelic effects of genes can not be estimated with ease. In addition, under linkage equilibrium, marker genotypes provide no information about the genotype of a QTL (our terminology for a single quantitative trait locus is QTL while multiple loci are referred to as QTLs). To circumvent this problem, an interval mapping procedure based on a random model approach is described. Under a random model, instead of estimating the effects, segregating variances of QTLs are estimated by a maximum likelihood method. Estimation of the variance component of a QTL depends on the proportion of genes identical-by-descent (IBD) shared by relatives at the locus, which is predicted by the IBD of two markers flanking the QTL. The marker IBD shared by two relatives are inferred from the observed marker genotypes. The procedure offers an advantage over the regression interval mapping in terms of high power and small estimation errors and provides flexibility for large sibships, irregular pedigree relationships and incorporation of common environmental and fixed effects.

Alleles↗

Development of a genetic map of the chicken with markers of high utility.

Microsatellites are tandem duplications with a simple motif of one to six bases as the repeat unit. Microsatellites provide an excellent opportunity for developing genetic markers of high utility because the number of repeats is highly polymorphic, and the assay to score microsatellite polymorphisms is quick and reliable because the procedure is based on the polymerase chain reaction (PCR). We have identified 404 microsatellite-containing clones of which 219 were suitable as microsatellite markers. Primers for 151 of these microsatellites were developed and used to detect polymorphisms in DNA samples extracted from the parents of two reference populations and three resource populations. Sixty, 39, 46, 49, and 61% of the microsatellites exhibited length polymorphisms in the East Lansing reference population, the Compton reference population, resource population No. 1 (developed to identify resistance genes to Marek's disease), resource population No. 2 (developed to identify genes involved in abdominal fat), and resource population No. 3 (developed to identify genes involved in production traits), respectively. The 91 microsatellites that were polymorphic in the East Lansing reference population were genotyped and 86 genetic markers were eventually mapped. In addition, 11 new random amplified polymorphic DNA (RAPD) markers and 24 new markers based on the chicken CR1 element were mapped. The addition of these markers increases the total number of markers on the East Lansing genetic map to 273, of which 243 markers are resolved into 32 linkage groups. The map coverage within linkage groups is 1,402 cM with an average spacing of 6.7 cM between loci. The utility of the genetic map is greatly enhanced by adding 86 microsatellite markers. Based on our current map, approximately 2,550 cM of the chicken genome is within 20 cM of at least one microsatellite marker.

Animals↗

[Extremely Low Birthweight Infants in Iceland. Neurodevelopmental profile at five years of age.].

OBJECTIVE: This study was part of a geographically defined national study on survival, health, development, and longterm outcome of extremely low birthweight infants (ELBW; birthweight < 1000g) in Iceland focusing on development and neurodevelopmental measures in comparison to a reference group. METHODS: All 35 ELBW longtime survivors born in 1991-95 and 55 children as matched reference group were enrolled in a prospective study on longterm health and development. The children underwent medical examinations and neurodevelopmental testing at five years of age in 1996-2001, and their parents answered a questionnaire on their behavior. Comparison was made between ELBW infants and the reference group. Revised (WPPSI-R) showed significantly lower full scale IQ scores for the ELBW group compared to the reference group (p<0.001). More difference was apparent between the groups for the performance IQ than the verbal IQ. Scores on Test of Language Development (TOLD-2P) showed differences between the ELBW group and the reference group on the total language quotient (p=0.025). Significant differences were not obtained between the groups on TOLD-2P s individual subtests, languistic features nor linguistic systems. Total Scores on the Miller Assessment for Preschoolers (MAP) with emphasis on sensory motor development, were significantly lower for the ELBW group compared to the reference group (p<0.001). Additionally, significant differences were found on three of five subscales of the MAP. Evaluation of fine motor skills with the Finmotorisk utvecklingsstatus 1-7aar (FU) revealed significant differences (p<0.001), favoring the reference group. Parental answers on the Child Behavior Checklist (CBCL) showed differences between the groups on three of eight factors in favor of the reference group (p<0.001). CONCLUSIONS: Developmental testing at five years of age indicates that the performance of 25% of the ELBW children in this study, is consistent with that of same age peers. However, as a group, the ELBW children performed significantly poorer regarding cognitive development and sensory-motor skills when compared to the reference group. The most prominent neurodevelopmental difficulties of the ELBW children were within perceptual organization, coordination, and executive skills. Behavior problems were not rated as significant according to parental answers, although there were some differences between the groups. Since a large portion of ELBW children experiences developmental problems, it is important to provide early intervention during preschool years and support services and special education during school years, to reduce the longterm effects of developmental deficits.

English Abstract↗

Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2.

By virtue of the protein's size, myofibrillar localization, and proposed functional role, the gene encoding the giant sarcomere matrix protein nebulin represents a possible site for myopathic mutations. Using polyclonal anti-nebulin antisera to screen a cDNA expression library, we have isolated and characterized two separate human fetal muscle cDNA clones. By recovering fusion polypeptide-bound portions of our polyclonal antiserum and reutilizing them to probe Western blots, we further demonstrate that the expressed cDNAs encode polypeptide epitopes unique to the protein nebulin. Both cDNAs detect a 25-kb skeletal muscle RNA transcript and localize to human chromosome 2. The identification of nebulin cDNA clones enables the complete analysis of this enormous mRNA by transcript walking through muscle cDNA libraries. Here we report a restriction map of the 3' end of the human nebulin transcript, with reference to the genomic fragments identified by the cDNA.

Chromosome Mapping↗

The mosaic structure of human pericentromeric DNA: a strategy for characterizing complex regions of the human genome.

The pericentromeric regions of human chromosomes pose particular problems for both mapping and sequencing. These difficulties are due, in large part, to the presence of duplicated genomic segments that are distributed among multiple human chromosomes. To ensure contiguity of genomic sequence in these regions, we designed a sequence-based strategy to characterize different pericentromeric regions using a single (162 kb) 2p11 seed sequence as a point of reference. Molecular and cytogenetic techniques were first used to construct a paralogy map that delineated the interchromosomal distribution of duplicated segments throughout the human genome. Monochromosomal hybrid DNAs were PCR amplified by primer pairs designed to the 2p11 reference sequence. The PCR products were directly sequenced and used to develop a catalog of sequence tags for each duplicon for each chromosome. A total of 685 paralogous sequence variants were generated by sequencing 34.7 kb of paralogous pericentromeric sequence. Using PCR products as hybridization probes, we were able to identify 702 human BAC clones, of which a subset, 107 clones, were analyzed at the sequence level. We used diagnostic paralogous sequence variants to assign 65 of these BACs to at least 9 chromosomal pericentromeric regions: 1q12, 2p11, 9p11/q12, 10p11, 14q11, 15q11, 16p11, 17p11, and 22q11. Comparisons with existing sequence and physical maps for the human genome suggest that many of these BACs map to regions of the genome with sequence gaps. Our analysis indicates that large portions of pericentromeric DNA are virtually devoid of unique sequences. Instead, they consist of a mosaic of different genomic segments that have had different propensities for duplication. These biologic properties may be exploited for the rapid characterization of, not only pericentromeric DNA, but also other complex paralogous regions of the human genome.

Centromere↗

Failure analysis of MetaMap Transfer (MMTx).

A pilot study was conducted to evaluate the performance of the MetaMap Transfer (MMTx), a tool that extracts terms from free text and suggests matches to concepts in the Unified Medical Language System' (UMLS'). Five participants, including a content domain expert and a UMLS Expert, manually extracted and mapped terms to UMLS concepts for two disease summary documents from NLM's consumer health site, Genetic Home Reference. The resulting adjudicated annotations were used as a gold standard. Differences in auto-mated term extraction and mapping between MMTx and MetaMap were noted. A failure analysis was conducted to categorize the types of terms not correctly mapped by MMTx. The most frequent type of failure (30%) resulted from missing inferential or world knowledge. Characteristics of each category are discussed. We distinguish between classes of failures that may be easily rectified, such as alternative retrieval strategies to extract exact matches, and ones that require additional research, such as coordinating conjunctions, co-reference resolution, and word sense disambiguation

Abstracting and Indexing↗

Quality control and technical outcome of ISO-DALT two-dimensional electrophoresis in a clinical laboratory setting.

In this paper, we present initial quality-control evaluations for a prototype clinical laboratory, recommendations for clinical and technical data record-keeping, and laboratory protocols designed to minimize operator-dependent analytical error in a multi-user environment. These evaluations and recommendations are based on qualitative and semiquantitative two-dimensional electrophoresis studies of the College of American Pathologists' Reference Preparation for Serum Proteins (RPSP). We include the schematic map of RPSP and manually derived estimates of analytical precision for within-run and run-to-run performance with the standard 18 X 18 cm ISO-DALT system.

Amniotic Fluid↗