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PubMedDate not supplied

The mitotic, polytene, and meiotic chromosomes of Drosophila ananassae.

The mitotic chromosome complement of D. ananassae consists of four structurally distinguishable submetacentric pairs and all four have been identified with their linkage groups. For the polytene chromosome complement of six arms representing the X, second and third chromosomes, an improved reference map has been constructed and used to describe selected cytogenetically useful rearrangements. In meiotic prophase of spermatocytes, chromosomes 2 and 3 form pachytene-diplotene bivalents whose arms may be associated by chiasmata in postdiplotene stages, but the X, Y and fourth chromosomes participate in a complex multivalent. No correlation was detected between meiotic chromosome behavior and specific genes that regulate crossing over in males. In male inversion heterozygotes having high levels of genetically monitored crossing over, no unequivocal evidence was found for formation of either pachytene inversion loops or anaphase bridges and fragments.

Animals↗
PubMed1992

Leukaemia clusters in Great Britain. 1. Space-time interactions.

STUDY OBJECTIVE: The aim was to test a large set of childhood leukaemia and lymphoma registrations for the presence of clusters in space and in time. DESIGN: The study was a space-time cluster analysis. SETTING: England, Wales and Scotland. PATIENTS: All registrations for leukaemia and lymphoma between 1966 and 1983 in children aged 0 to 14 years were examined. The records included date and age of registration, sex, diagnosis, and the map reference of the postcode of residence. Of the 9411 registrations, 8888 were suitable for inclusion. MAIN RESULTS: There was a statistically significant excess of case pairs occurring jointly within 0.5 km and 60 d of each other: 68 pairs compared with 50.0 expected. The excess was detectable in central England, in the north of England and Scotland, but not in the south west of England. It was concentrated within the age band 4 to 7 years and among the lymphatic leukaemias. Several potential artefacts were considered and excluded, but the possibility remained that clustered detections might be triggered by haematological examinations undertaken for some communicable disease. CONCLUSIONS: There was strong evidence of joint spatial-temporal clustering, with an excess of pairs separated by very short time and distance intervals. The causes are probably biological rather than artefactual, but further work will be necessary in order to exclude the latter.

Adolescent↗
PubMed1992

Leukaemia clusters in Great Britain. 2. Geographical concentrations.

STUDY OBJECTIVE: The aim was to test a large set of childhood leukaemia and lymphoma registrations for the presence of short radius spacial clusters. DESIGN: The study was a geographical cluster analysis. SETTING: England, Wales and Scotland. PATIENTS: All registrations for leukaemia and lymphoma between 1966 and 1983 in children aged 0 to 14 years were examined. The records included date and age of registration, sex, diagnosis, and the map reference of the postcode of residence. Of the 9411 registrations, 8888 were suitable for inclusion. MAIN RESULTS: There was a significant excess of case pair addresses separated by < 0.5 km. There was also a significant excess of pairs sharing the same postcode. Both findings were based upon comparison with random pairs of postcodes drawn from the Central Postcode Directory. Examination for clustering at this very short range was based upon a clear prior hypothesis derived from the results of a study of space-time interaction, reported in a companion paper. CONCLUSIONS: It is postulated that the space-time interaction and the geographical concentrations shown here result from a common epidemic process. The epidemiology of this disease is characterised by short range geographical concentrations, with temporal non-homogeneity superimposed. The findings exclude certain artefacts which remained unresolved in the space-time interaction study. The distributions almost certainly reflect biological processes, and the most probable explanation is in terms of an infective process.

Adolescent↗
PubMed2026

The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration.

Rare coding variants can have large effects on disease risk and provide direct routes from human genetics to disease mechanisms and therapeutic targets, but their discovery is constrained by sample size, particularly for low-prevalence diseases. Here we establish the Biobank Rare Variant Analysis (BRaVa) consortium, a global rare variant association resource that integrates sequencing and linked health-record data from ten biobanks and cohorts comprising over 1.2 million individuals across diverse ancestries. We performed gene-based meta-analyses of rare coding variation across 33 clinical endpoints and 11 quantitative traits. Aggregating evidence across biobanks and ancestries identified 514 gene-trait associations, including 31 not previously reported in prior studies or curated association resources following systematic literature review. Notably, 36.1% of gene-level associations were undetectable in any individual biobank, and 91 emerged only through cross-ancestry meta-analysis, demonstrating that federated integration enables discovery beyond the reach of single cohorts. Similar gains were observed at the variant level, where 25.0% of phenotype-locus associations were detectable only through meta-analysis. Effect size estimates were correlated across ancestries with concordant directions of effect, supporting the generalizability of rare variant associations. The identified signals implicate pathways involved in transcriptional and epigenetic regulation, metabolism, vascular and epithelial biology, and immune function, highlighting rare coding variation as an engine for biological discovery across medical record phenotypes. For example, damaging variation in ANKRD12 implicates inflammatory transcriptional dysregulation in asthma and chronic obstructive pulmonary disease, and ultra-rare predicted loss-of-function variants in NAA15 link protein acetylation processes to type 2 diabetes risk. BRaVa establishes a scalable framework and freely available community resource for rare variant meta-analysis across global biobanks. Public release of gene- and variant-level association summary statistics provides a reference map of rare coding variant associations to support disease gene discovery, biological interpretation, and therapeutic target prioritization as sequencing-linked health-record resources continue to expand.

Journal Article↗
PubMedDate not supplied

Emulation of somatosensory evoked potential (SEP) components with the 3-shell head model and the problem of 'ghost potential fields' when using an average reference in brain mapping.

In brain topographic mapping, the putative location and orientation in the head space of neural generators are currently inferred from the features of negative and positive scalp potential fields. This procedure requires the use of a fairly neutral reference. The frequently advocated average reference creates problems because its effect is not merely to change a (steady) zero reference level, but to dynamically zero-center all scalp potentials at each latency. Ghost potential fields are thus created at the latencies for which the integral of scalp recorded potentials differs from zero. These distortions of brain mapping have been analyzed with a true 3-shell head model in conjunction with the emulation of SEP components. In the head model, surface potential fields generated by dipoles or dipole sheets of various depths and orientations were computed either over the north hemisphere, so as to emulate scalp recorded SEP components, or over the entire equivalent head sphere. The spurious effects of the average reference are shown to occur because it is computed from a limited number of (scalp) electrodes which fail to survey the bottom half of the head.

Adult↗
PubMedDate not supplied

Inadequacy of the average reference for the topographic mapping of focal enhancements of brain potentials.

The main reason for doing topographic mapping of EEG or evoked potentials is to assess regional changes in brain potentials. The use of an average reference is shown to have perverse effects in this relation, namely because it imposes on the recorded data a zero-centering effect which can reduce, eliminate or even reverse the focal changes of bit-mapped brain potentials. Concurrent studies on a true 3-shell head model suggest that such distortions of human EEG data occur because the average reference is computed from a set of (scalp) recording electrodes which do not survey the bottom half of the head volume so that the integral of scalp-recorded potentials frequently differs from zero. The results also raise the question whether the actual incidence of radial or near-radial (versus tangential) generators has been underestimated in the published data using average reference mapping.

Adult↗
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↗
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↗
PubMedDate not supplied

Plasma protein map: an update by microsequencing.

The reference plasma protein map, obtained with immobilized pH gradients in the first dimension of two-dimensional electrophoresis, is presented. By microsequencing, more than 40 polypeptide chains were identified. The new polypeptides and previously known proteins are listed in a table and labeled on the protein map, thus providing an update of the human plasma two-dimensional gel database.

Amino Acid Sequence↗
PubMed1992

Similarity between average distance maps of structurally homologous proteins.

A similarity between average distance maps (Kikuchi et al., 1988a)--that is, predicted contact maps of two tertiary structurally homologous proteins--is examined. Comparisons of shapes of average distance maps (we refer to this as ADM) are made by superpositions of ADMs for two homologous proteins. Also, we compare shapes of actual contact maps for the pair of proteins. We search a optimal superposition mode of each pair of maps showing that two proteins are most similar. It is concluded that two ADMs are also similar when actual tertiary structures between two proteins show similarity. A criterion for similarity of maps is also proposed. The possibility of application of this method to detect weak homology between protein structures is discussed.

Protein Conformation↗
PubMed1990

Topographic segmentation of waking EEG in medication-free schizophrenic patients.

Lehmann has demonstrated that EEG topography can be used to segment EEG map series into a sequence of spatially stationary segments characterized by location of potential maxima and minima. We employed topographic segmentation techniques to study 9 channel EEGs recorded from 11 medication-free schizophrenic patients and 10 normal controls during resting and active task conditions, retesting 8 patients after neuroleptic treatment. To define EEG segments, average reference potential maps corresponding to global field power peaks in theta, alpha, and low beta activity were classified according to locations of extreme minimum and maximum values. Normals and schizophrenics did not differ in the number or types of switches between segments, or the frequency of hemisphere crossing of potential extrema. However, EEGs of normal subjects were characterized by significantly more (P less than 0.003) unused theta segment types (of a theoretically possible 36). Moreover, medication significantly (P less than 0.02) increased the number of unused theta segment types in EEGs of schizophrenics. We interpret these findings as evidence of increased spatial variability of brain electrical activity in schizophrenics and discuss their functional implications.

Adult↗
PubMed2026

Proteomic profiling of the aqueous extract from the antennal gland of the Pacific white shrimp, Litopenaeus vannamei.

The antennal gland (AnG) of decapod crustaceans has been proposed as a potential source of bioactive molecules involved in chemical communication; however, its protein composition remains largely unexplored. Here, we present the first reference proteomic map of the aqueous extract from the antennal gland of the Pacific white shrimp Litopenaeus vannamei. Protein extracts from immature and mature females were analyzed using an integrated workflow combining one-dimensional SDS-PAGE, reverse-phase high-performance liquid chromatography (RP-HPLC), and nanoLC-tandem mass spectrometry. Electrophoretic and chromatographic analyses revealed a high degree of qualitative similarity between reproductive stages. SDS-PAGE resolved six major protein bands (&#x223c;227, 166, 77, 42, 35, and 17&#xa0;kDa), most comprising multiple co-migrating proteins as revealed by LC-MS/MS. Hemocyanin was identified as the predominant protein and was detected across several electrophoretic bands. Additional proteins were associated with innate immunity, including &#x3b2;-1,3-glucan-binding protein and coagulable hemolymph protein; reproductive processes, including vitellogenin, spermatogonial stem-cell renewal factor, farnesoic acid O-methyltransferase, estrogen sulfotransferase, and prostaglandin reductase 1; as well as energy metabolism, protein homeostasis, cytoskeletal organization, and intracellular trafficking. Because several identified proteins are widely distributed or known hemolymph components, their detection cannot be assumed to reflect AnG-specific expression or function. Collectively, these findings establish a molecular reference for the L. vannamei AnG and reveal protein components associated with multiple physiological processes. This dataset provides a proteomic framework for future comparative and functional studies aimed at elucidating antennal gland physiology and experimentally evaluating the potential involvement of proteinaceous or peptide-based molecules in chemical communication in decapod crustaceans.

Animals↗
PubMed1992

Sequence, biochemical characterization, and developmental expression of a new member of the TGF-beta superfamily in Drosophila melanogaster.

More than 20 members of the transforming growth factor-beta (TGF-beta) superfamily of growth and differentiation factors have been implicated in development. One member of the TGF-beta family has been previously reported from Drosophila, the decapentaplegic (dpp) gene which is involved in embryonic dorsal/ventral polarity, embryonic gut formation, and imaginal disk development. Using PCR methods, we have identified a second Drosophila gene in the TGF-beta family. It encodes a protein product that is more similar to the TGF-beta-related human bone morphogenetic proteins (BMPs) 5, 6, and 7 than it is to the Drosophila dpp gene product. Because of its localization on the polytene chromosome map, we refer to this gene as 60A. Expression of a 60A cDNA in Drosophila S2 cells was used to determine that 60A encodes a preproprotein that is processed to yield secreted amino- and carboxy-terminal polypeptides. The carboxy-terminal peptides are recovered as disulfide-linked homodimers. The 60A transcripts and protein are first detected at the onset of gastrulation, primarily in the mesoderm of the extending germ band. As the germ band retracts, and throughout later stages of embryonic development, the 60A transcript and protein are most readily detected in cells of the developing foregut and hindgut.

Amino Acid Sequence↗
PubMed1990

Towards establishing a protein database of Drosophila.

An improved method of high-resolution two-dimensional gel electrophoresis has been used to study the patterns of protein synthesis in wing imaginal discs of late instar larvae of Drosophila melanogaster. A total of one thousand and twenty five labelled polypeptides (787 acidic and 238 basic) have so far been separated and catalogued. For convenience, all these polypeptides have been numbered and their position fixed by its molecular weight and relative mobility. They are indicated on a reference protein map for further studies.

Animals↗
PubMed1992

Human cerebrospinal fluid protein database: edition 1992.

Two-dimensional electrophoresis maps of human cerebrospinal fluid proteins are presented in the form of labeled images. 931 protein spots are identified in spinal fluid from a normal volunteer. Distinct spots that represent variants of the same protein, especially posttranslational modifications, are estimated to reduce the 931 different spots to < 200 different proteins. 248 spots of 29 protein groups have been identified and are indicated on enlargements of specific gel regions. The distribution of protein abundance, mass, charge and shape characteristics of these normal 931 spinal fluid spots are graphically profiled. Analysis of the shape parameter "vertical height: width ratio" reveals that a ratio > 3.5 correlates with glycoproteins, enabling their identification simply by image analysis. Proteins that are not present on the normal map, but appear in spinal fluid in patients with schizophrenia and Creutzfeldt-Jakob disease are illustrated on additional maps.

Cerebrospinal Fluid Proteins↗