Chromosome 17-linked dementias

Chromosome 17-linked dementias have been defined by linkage analysis. The most common of these syndromes has been estimated to be the cause of between 2 and 20% of all dementia and has alternately been called frontotemporal dementia, Pick's disease (without Pick bodies) and dementia lacking distinctive features [1 – 3]. The identification of the mutation responsible for these conditions in a group of clinically and pathologically heterogeneous disorders may allow us to gain broad insight into the processes of neurodegeneration.     

Cytogenetic and biochemical comparison of Mus musculus and Mus hortulanus

Two chromosome markers of Mus hortulanus are described: a dotted Y chromosome exceeding half of the length of autosome 19, and the 'domesticus' type of C-banding in the X chromosome. In Mus musculus from distant regions of the USSR (more than 200 specimens of various subspecies), the Y chromosome is equal to autosome 19, and the X chromosome is of the 'molossinus' type. Specific biochemical characteristics of house mice of the USSR are shown.     

Alzheimer’s disease and CADASIL are heritable,adult-onset dementias that both involve damaged small blood vessels

This essay explores an alternative pathway to Alzheimer’s dementia that focuses on damage to small blood vessels rather than late-stage toxic amyloid deposits as the primary pathogenic mechanism that leads to irreversible dementia. While the end-stage pathology of AD is well known, the pathogenic processes that lead to disease are often assumed to be due to toxic amyloid peptides that act on neurons, leading to neuronal dysfunction and eventually neuronal cell death. Speculations as to what initiates the pathogenic cascade have included toxic abeta peptide aggregates, oxidative damage, and inflammation, but none explain why neurons die. Recent high-resolution NMR studies of living patients show that lesions in white matter regions of the brain precede the appearance of amyloid deposits and are correlated with damaged small blood vessels. To appreciate the pathogenic potential of damaged small blood vessels in the brain, it is useful to consider the clinical course and the pathogenesis of CADASIL, a heritable arteriopathy that leads to damaged small blood vessels and irreversible dementia. CADASIL is strikingly similar to early onset AD in that it is caused by germ line mutations in NOTCH 3 that generate toxic protein aggregates similar to those attributed to mutant forms of the amyloid precursor protein and presenilin genes. Since NOTCH 3 mutants clearly damage small blood vessels of white matter regions of the brain that lead to dementia, we speculate that both forms of dementia may have a similar pathogenesis, which is to cause ischemic damage by blocking blood flow or by impeding the removal of toxic protein aggregates by retrograde vascular clearance mechanisms.     

Heterozygote Zentrenfusion bei einer weissen Laborratte

Summary A centric fusion of 2 acrocentric chromosomes in a female laboratory rat is described. The phenotype was normal. The new chromosome is submetacentric. Other animals of the same group showed such new chromosomes only sporadically. No information is available of chromosome mosaic, fertility or genetics of this animal.     

Differences in chromosome A arrangement between Drosophila madeirensis and Drosophila subobscura

The proximal half of the A (= X) chromosome of D. madeirensis has a gene arrangement very similar to the A1 or A6 inversions found in D. subobscura. Polytene chromosome analysis of hybrids between D. madeirensis and strains of D. subobscura homozygous for such inversions shows, however, that D. madeirensis has a gene arrangement different from any known for D. subobscura. These results provide evidence for a greater differentiation of the X chromosome in these species than has previously been described; it seems that the X chromosome is the only one that has undergone structural variation during the speciation process.     

Fine structure of differentiated chromosome segments during the meiosis of pollen mother cells of Allium cepa

Summary Differentiated chromosome segments were observed during studies of pollen mother cells of A. cepa during the first meiotic division. Their structure is like those of the nucleolar organizing region (NOR) described in A. cepa microspores. It is suggested that these differentiated chromosome segments correspond to the secondary constrictions seen under the optical microscope.     

Robertsonian translocations in Mus musculus from Sicily

Summary The karyotypes of 6 mice from different places in Sicily have been determined. 3 of them had abnormal chromosome numbers of 2n=26, 2n=27 and 2n=29, caused by Robertsonian translocations of one acrocentric chromosome to another resulting in metacentric chromosomes, The newly described metacentric chromosomes are Rb(4.3)1Sic, Rb(15.2)2Sic, Rb(12.6)3Sic, Rb(13.5)4Sic, Rb(14.10)5Sic, Rb(17.8)6Sic and Rb(16.9)7Sic.We thank Dr J. Olert, Pathologisches Institut der Universität Ulm, for karyotyping 1 mouse from Sicily.     

Differences in chromosome A arrangement betweenDrosophila madeirensis andDrosophila subobscura

Summary The proximal half of the A (=X) chromosome ofD. madeirensis has a gene arrangement very similar to the A1 or A6 inversions found inD. subobscura. Polytene chromosome analysis of hybrids betweenD. madeirensis and strains ofD. subobscura homozygous for such inversions shows, however thatD. madeirensis has a gene arrangement different from any known forD. subobscura. These results provide evidence for a greater differentiation of the X chromosome in these species than has previously been described; it seems that the X chromosome is the only one that has undergone structural variation during the speciation process.     

Endothelial cells as antigen-presenting cells: role in human transplant rejection

The immunological properties of human endothelial cells suggest they perform a pivotal role in acute and chronic rejection following solid organ transplantation. In this review the basic features of acute and chronic rejection are described as are the cellular and molecular requirements for antigen presentation. Traditionally, antigen-presenting cells are considered to be bone marrow-derived cells. However, these conclusions have been derived from rodent models of allograft rejection where bone marrow-derived passenger leukocytes are the only source of donor major histocompatibility complex (MHC) class II in the grafted organ. In contrast, in humans, virtually all the microvascular and small vessel endothelial cells are ‘constitutively’ positive for MHC class II antigens. The phenotypic properties of human endothelial cells, their response to cytokines and their ability to stimulate resting T cells are described. Unlike bone marrow-derived antigen presenting cells (APCs), which utilise B7/CD28 interactions, human endothelial cells utilise lymphocyte function antigen 3 (LFA3)/CD2 pathways to stimulate T cells. They activate a CD45RO + B7-independent subpopulation of T cells. Their effect on allogeneic T cells is compared with other non-bone marrow-derived cells such as fibroblasts, epithelial cells and smooth muscle cells, which are unable to stimulate resting T cells. Evidence is presented suggesting that release of MHC and non-human leukocyte antigens (HLA) from endothelial cells stimulates an alloantibody and autoimmune response leading to chronic rejection. Received 30 March 1998; received after revision 4 May 1998; accepted 4 May 1998     

A new chromosome number forBombina (Anura,Discoglossidae)

Summary The karyotype of a primitive discoglossid anuran,Bombina maxima, native to southwestern China, has 2n=28 chromosomes with 6 large and 8 small bi-armed homologous pairs. This is a higher chromosome number than described for otherBombina species, all of which have 2n=24.     

A cytogenetic study of a barbary sheep (Ammotragus lervia) x domestic goat (Capra hircus) hybrid

Summary An account is given of stillborn male twins born to a female Saanen goat (Capra hircus) and a Barbary ram (Ammotragus lervia). The cytogenetics of the cultured hybrid cells are described and attention is drawn to the high proportion of cells which lacked one chromosome.Acknowledgment. I. gratefully acknowledge the help of Mr G.E. Embleton who took the skin biopsy of the Barbary ram.     

The diversity of molecular motors: an overview

Rapid progress has recently been made in the identification and characterization of a large number of kinesin and myosin motor proteins. Recent work has uncovered roles for these motors in processes such as vesicle trafficking, cytoskeletal organization, and chromosome movements, to name a few. A series of reviews describing some of the significant advances in our understanding of the structure and function of myosins and kinesins is presented.     

Porcine factor V: cDNA cloning, gene mapping, three-dimensional protein modeling of membrane binding sites and comparative anatomy of domains

Factor V is a plasma protein essential for blood coagulation. This protein is involved in activated protein C resistance, the most common inherited thrombotic disorder known. We utilized the polymerase chain reaction to clone the porcine factor V gene by generating overlapping clones amplified with primers chosen by comparison with known nucleotide sequences. The porcine factor V cDNA contig encodes a predicted 2258-amino acid protein, making it the largest in comparison to the bovine, human, and murine proteins. Porcine factor V has the highest level of homology with bovine factor V, but also has high levels of conservation of important residues with all the species. Radiation hybrid mapping assigned the porcine factor V gene to chromosome 4. Three-dimensional models of factor V were generated and used to analyze membrane-binding sites in terms of conserved, and therefore likely important residues. Received 3 October 2000; revised 23 November 2000; accepted 6 December 2000     

Chromosome counting on 79-year-old dried seaweed,Porphyra leucostica (Rhodophyta)

Summary An adaptation of the aceto-iron-haematoxylin-chloral hydrate staining solution is described for chromosome counting of dried seaweeds. The chromosome number ofPorphyra leucosticta (Rhodophyta) collected recently and fixed in ethanol-acetic acid compares well with material of the same species collected and dried in 1897. The significance of this new source of data, allowing the study of the old type material, is stressed in the paper.Under a CNPq fellowship No. 5503/74.We thank Prof.C. Pavan for valuable suggestions.     

Dictyostelium mobile elements: strategies to amplify in a compact genome

Dictyostelium discoideum is a eukaryotic microorganism that is attractive for the study of fundamental biological phenomena such as cell-cell communication, formation of multicellularity, cell differentiation and morphogenesis. Large-scale sequencing of the D. discoideum genome has provided new insights into evolutionary strategies evolved by transposable elements (TEs) to settle in compact microbial genomes and to maintain active populations over evolutionary time. The high gene density (about 1 gene/2.6 kb) of the D. discoideum genome leaves limited space for selfish molecular invaders to move and amplify without causing deleterious mutations that eradicate their host. Targeting of transfer RNA (tRNA) gene loci appears to be a generally successful strategy for TEs residing in compact genomes to insert away from coding regions. In D. discoideum, tRNA gene-targeted retrotransposition has evolved independently at least three times by both non-long termina l repeat (LTR) retrotransposons and retrovirus-like LTR retrotransposons. Unlike the nonspecifically inserting D. discoideum TEs, which have a strong tendency to insert into preexisting TE copies and form large and complex clusters near the ends of chromosomes, the tRNA gene-targeted retrotransposons have managed to occupy 75% of the tRNA gene loci spread on chromosome 2 and represent 80% of the TEs recognized on the assembled central 6.5-Mb part of chromosome 2. In this review we update the available information about D. discoideum TEs which emerges both from previous work and current large-scale genome sequencing, with special emphasis on the fact that tRNA genes are principal determinants of retrotransposon insertions into the D. discoideum genome. Received 10 May 2002; received after revision 10 June 2002; accepted 12 June 2002 RID="*" ID="*"Corresponding author.     

Zeitsparende automatische Mitostatikazufuhr bei der Leukozytenkultur zur Chromosomendarstellung

Summary An instrument for the automated and timevariable supply of mitostatica to leucocyte cultures for chromosome preparations is described. This instrument allows a routine laboratory to prepare cultures with a better time schedule. The action of colcemid was successfully tested after a 24-h period in the incubator before adding to the culture.     

Location of an eye mutant in the onion flyHylemya antiqua meigen using a pericentric chromosome inversion

Summary With the use of a pericentric inversion in chromosome 3, an eye color mutant in the onion fly was located in chromosome 3. No recombination occurs in males; 40.2% recombination was observed in females. This linkage through the male facilitates further cytogenetic research on structural aberrations involving chromosome 3.     

Induced radiation resistance in cell cultures of Chinese hamster cells: induction and manner of resistance (author's transl)]

Mutations-induction followed by selection is a suitable method for developing a cell line with resistance to low doses of X-rays. In comparison with the original cell line, the derived resistant line is characterized by an enhanced variability of the chromosome number, and no higher level of cellular repair, limited to the two repair types described.