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PubMed1988

Plant transposable elements: their role in evolution.

Transposable elements (TE) are natural constituents of plant genomes. However, their presence only becomes apparent if they become dislodged from their resident positions in the genome and transpose into another gene, thereby inducing a mutation. Such TE-induced mutations are somatically unstable because they revert to wild type and hence reconstitute the expression of the mutated gene. The frequent somatic excision of the TE results in a variegated phenotype. Since this instability is inherited in a Mendelian manner the variegated phenotype is nuclear determined. By this criterion TE have been shown to occur in more than 30 species belonging to different families and genera. Many questions arise when dealing with TE: their structure and functions, and the biological significance of the activity of elements in the differentiation of a normal plant or in the evolution of plant genes.

Biological Evolution↗
PubMed2005

The evolution of human anti-double-stranded DNA autoantibodies.

It has been proposed that the anti-double-stranded DNA (dsDNA) response in patients with systemic lupus erythematosus (SLE) is antigen driven and that DNA or nucleosomes select anti-DNA reactive, somatically mutated B cells. We have used site-directed mutagenesis to systematically revert the somatic mutations of two human anti-dsDNA antibodies from SLE patients to analyze the resulting changes in DNA binding as well as binding to other autoantigens. Our data demonstrate that high-affinity binding to dsDNA and nucleosomes is acquired by somatic replacement mutations in a stepwise manner. Reactivity to surface structures of apoptotic cells is acquired by the same somatic mutations that generate high-affinity dsDNA binding. Importantly, revertant antibodies with germ-line V regions did not show any measurable DNA reactivity. We propose that anti-DNA autoantibodies are generated from nonautoreactive B cells during a normal immune response. B cells may acquire autoreactivity de novo during the process of somatic hypermutation. Nucleosomes, if available in lupus patients because of defects in clearing of apoptotic debris, might subsequently positively select high affinity anti-DNA B cells.

Amino Acid Sequence↗
PubMed2005

Somatic hypermutation and junctional diversification at Ig heavy chain loci in the nurse shark.

We estimate there are approximately 15 IgM H chain loci in the nurse shark genome and have characterized one locus. It consists of one V, two D, and one J germline gene segments, and the constant (C) region can be distinguished from all of the others by a unique combination of restriction endonuclease sites in Cmu2. On the basis of these Cmu2 markers, 22 cDNA clones were selected from an epigonal organ cDNA library from the same individual; their C region sequences proved to be the same up to the polyadenylation site. With the identification of the corresponding germline gene segments, CDR3 from shark H chain rearrangements could be analyzed precisely, for the first time. Considerable diversity was generated by trimming and N addition at the three junctions and by varied recombination patterns of the two D gene segments. The cDNA sequences originated from independent rearrangements events, and most carried both single and contiguous substitutions. The 53 point mutations occurred with a bias for transition changes (53%), whereas the 78 tandem substitutions, mostly 2-4 bp long, do not (36%). The nature of the substitution patterns is the same as for mutants from six loci of two nurse shark L chain isotypes, showing that somatic hypermutation events are very similar at both H and L chain genes in this early vertebrate. The cis-regulatory elements targeting somatic hypermutation must have already existed in the ancestral Ig gene, before H and L chain divergence.

Amino Acid Sequence↗
PubMed1983

Gene mapping of the gibbon. Its position in primate evolution.

Comparative karyotyping of the Hylobatidae has revealed only very few chromosome homoeologies with other primates. Their position in the phylogenetic tree thus remains uncertain. With the hope that comparative gene mapping might allow overcoming these difficulties, somatic cell hybrids were obtained by fusion of fibroblasts from a Hylobates (Nomascus) concolor and cells from a HPRT-Chinese hamster cell line. Of 34 investigated enzyme markers, 20 could be mapped, and 7 syntenies were established. When compared with man, there were 7 synteny disruptions. These results strongly suggest that the Hylobatidae diverged from the common stem leading to the Pongidae after the Cercopithecoidae had diverged.

Animals↗
PubMed1992

What are cancer genes, and how do they upset cell behaviour?

Some of the cellular changes underlying the presentation of cancer in a patient can already be understood in terms of mutations affecting specific gene functions. So far, only a few of the mutated genes responsible for carcinogenesis have been identified and these are chiefly involved in deregulation of cell growth rather than with the processes of invasion and metastasis. Proto-oncogenes are important cellular genes which can acquire gain in function mutations as random events in somatic cells. In their mutated, activated forms they are called cellular oncogenes or c-oncs. This distinguishes them from homologous DNA sequences captured by viruses from host cells in the course of retroviral evolution that cause cancers in animal hosts (viral oncogenes or v-oncs). In recent years, loss of function mutations have been identified in regulatory genes that normally serve to constrain cell growth. These are called tumour suppressor genes. Loss of function mutations may be transmitted in the germline, as in hereditary retinoblastoma, or arise de novo in somatic cells. The normal molecular mechanisms disrupted by mutations in tumour suppressor genes include processes regulating progression through the cell cycle.

Adult↗
PubMed1997

The notion of somatization: an artefact of the conceptualization of body and mind.

BACKGROUND: Somatization is a contemporary notion which derives from the conceptualization of body and mind and the resultant concept of disease. The common element in this thinking is that the presumed separation of the concepts body and mind can be spanned by clinical symptoms. METHODS: This paper examines the history of these concepts and the assumptions underlying them. RESULTS: It is shown that the debate on the pathological regions of the body-mind relation is of early origin. It is reflected in the evolution of concepts of disease and disease entities. The ongoing attempts to form a conceptual synthesis have resulted in a multiplicity of disease entities and in the notion of somatization. However, somatization is shown here to differ conceptually from controversial contemporary disease entities with which it often seems intertwined, such as myalgic encephalomyelitis and the hypersensitivity syndrome. CONCLUSION: This insight may help diminish the ambiguity in this area of research and practice.

Female↗
PubMedDate not supplied

Major reorganization of immunoglobulin VH segmental elements during vertebrate evolution.

In mammals, the immunoglobulin heavy-chain variable region (VH) locus is organized in a linear fashion; individual VH, diversity (DH), joining (JH) and constant (CH) region segments are linked in separate regions. During somatic development, coding segments flanked by characteristic short recombination signal sequences, separated by intervening sequence regions that may exceed 2,000 kilobases (kb), are recombined. Combinatorial joining of different segments as well as imprecision in this process contribute to the diversity of the primary antibody response; subsequent mutation further alters functionally rearranged genes. This basic somatic reorganization mechanism is shared by six major families of genes encoding antigen receptors. Previously, we have shown that multiple germline genes and mammalian-like recombination signal sequences are associated with the VH gene family of Heterodontus francisci (horned shark), a primitive elasmobranch. Studies presented here demonstrate that segmental reorganization involving mammalian-like DH and JH segments occurs in the lymphoid tissues of this species. In marked contrast to the mammalian system, we find multiple instances of close linkage (approximately 10 kb) between individual VH, DH, JH, and CH segments. This unique organization may limit combinatorial joining and be a factor in the restricted antibody response of this lower vertebrate.

Amino Acid Sequence↗
PubMed1980

[Comparative volumetric analysis of the principal subdivisions of the telencephalon in saurian reptiles].

The volumetric measure of the main subdivisions of the telencephalon has been carried on 24 species of Lizards and 2 species of Snakes. The studied structures are termed as follows: main and accessory olfactory bulbs, medial cortex (M 1 and M 2), dorsal cortex (D 1, D 2 and D 3), lateral cortex (L), Septum, Tuberculum olfactorium, dorsal and ventral striatum, amygdala and nucleus sphaericus. The analysis of the datas makes use of the SNEL L's formula which relates the volume of the various telencephalic subdivisions (V) to the somatic weight (S): V = k x S alpha. Each alpha value is compared to the value of the coefficient of allometry (A) of the whole brain. The evolutive (phylogenetic) growth of a structure is said fast (or slow) when its corresponding alpha value is higher (or lower) than the encephalic A value. At the cortical level such analysis shows the progressive nature of the dorsal cortex. A partition of the sample into Lacertomorpha (14 species) and Dracomorpha (10 species) (in agreement with the NORTHCUTT'S definition of his Type I and Type II Lizards) corroborates this cortical detail, more distinctly with the second group as well (especially for the D 2 portion). Moreover the high number of progressive structures among the Dracomorpha leads to consider this group as phylogenetically the most advanced in the Order of Lizards. The somatic indices are calculated according the allometric characteristics of the Reference Lizards. The judicious choice of some species allows to show how the development of a biological function may be expressed by the values of the indices of the related structures. For examples: dorsal cortex, dorsal striatum and mode of locomotion; olfactory bulbs, lateral cortex, part M 1 of the medial cortex and olfactory system; D 3 subdivision of the dorsal cortex and visual performances. The duality between Lacertomorpha and Dracomorpha is therefore corroborated by significant differences found for the various indices of a great number of telencephalic subdivisions. It leads moreover to find, grosso modo, two functional types of Lizards: moving-on-the-ground and wellsmelling (mainly Lacertomorpha) on the one hand, arboreal and with a fine vision (mainly Dracomorpha) on the other hand. The isoponderal percentages take an useful illustration of these results; it allows to establish the telencephalic pattern of a standard Lizard in which the pallium keeps the larger part (42%); in the pallium itself, the M 1 subdivision of the medial cortex has the most important percentage, a little more than the D 2 part of the dorsal cortex. A comparative study carried on 2 Snakes gives for Boa constrictor the lowest values of the indices, for almost all the structures. In return Natrix natrix stays, for a great number of structures, close to the level of the legless Lizards; this last result confirms distinctly the two levels of telencephalization already found in Snakes (PLATEL, 1976 a).

Amygdala↗
PubMed2006

Long-term evolution and functional diversification in the members of the nucleophosmin/nucleoplasmin family of nuclear chaperones.

The proper assembly of basic proteins with nucleic acids is a reaction that must be facilitated to prevent protein aggregation and formation of nonspecific nucleoprotein complexes. The proteins that mediate this orderly protein assembly are generally termed molecular (or nuclear) chaperones. The nucleophosmin/nucleoplasmin (NPM) family of molecular chaperones encompasses members ubiquitously expressed in many somatic tissues (NPM1 and -3) or specific to oocytes and eggs (NPM2). The study of this family of molecular chaperones has experienced a renewed interest in the past few years. However, there is a lack of information regarding the molecular evolution of these proteins. This work represents the first attempt to characterize the long-term evolution followed by the members of this family. Our analysis shows that there is extensive silent divergence at the nucleotide level suggesting that this family has been subject to strong purifying selection at the protein level. In contrast to NPM1 and NPM-like proteins in invertebrates, NPM2 and NPM3 have a polyphyletic origin. Furthermore, the presence of selection for high frequencies of acidic residues as well as the existence of higher levels of codon bias was detected at the C-terminal ends, which can be ascribed to the critical role played by these residues in constituting the acidic tracts and to the preferred codon usage for phosphorylatable amino acids at these regions.

Animals↗
PubMed1991

[Patterns of alcohol consumption among families with chronic somatic patients].

This paper intends a description of family climate likely to be found in low-class low-earnings sectors, sick persons suffering from chronic somatic pathologies are living in. The biopsychosocial model was the analysis model researchers selected to carry on the study: It allows the detection of risk situations connected with the different ways a family milieu casts its influence when an unfavorable evolution of the illness involved is at stake, i.e. when the development of such an illness slips from doctors's expectations. In the patients sample population under study, the incidence of "alcohol consumption within the family group" variable was deemed as one of the heaviest factors when the somatic illness worsens. Among those families where an active alcohol consumption could be detected, two alternative solutions were, also, likely to be found at the same time, namely: a family continued consumption pattern, and a family discontinued consumption pattern. Among the former consumption, alcohol appears as a central organization motive round which all group rules and norms center. Instead, the patient involved is confined to marginality, and deprived from the least psychophysical care as well. Quite contrary, among families where alcohol consumption was eventually ousted, organization patterns feature solidarity, and care to the patient involved.

Alcohol Drinking↗
PubMed2004

The regulation of competence to replicate in meiosis by Cdc6 is conserved during evolution.

DNA replication licensing is an important step in the cell cycle at which cells become competent for DNA replication. When the cell cycle is arrested for long periods of time, this competence is lost. This is the case for somatic cells arrested in G0 or vertebrate oocytes arrested in G2. CDC6 is a factor involved in replication initiation competence which is necessary for the recruitment of the MCM helicase complex to DNA replication origins. In Xenopus, we have previously shown that CDC6 is the only missing replication factor in the oocyte whose translation during meiotic maturation is necessary and sufficient to confer DNA replication competence to the egg before fertilization (Lemaitre et al., 2002: Mol Biol Cell 13:435-444; Whitmire et al., 2002: Nature 419:722-725). Here, we report that this oogenesis control has been acquired by metazoans during evolution and conserved up to mammals. We also show that, contrary to eukaryotic metazoans, in S. pombe cdc18 (the S. pombe CDC6 homologue), CDC6 protein synthesis is down regulated during meiosis. As such, the lack of cdc18 prevents DNA replication from occurring in spores, whereas the presence of cdc6 makes eggs competent for DNA replication.

Animals↗
PubMed1999

Analysis of heavy and light chain pairings indicates that receptor editing shapes the human antibody repertoire.

In the bone marrow, diversity in the primary antibody repertoire is created by the combinatorial rearrangement of different gene segments and by the association of different heavy and light chains. During the secondary response in the germinal centres, antibodies are diversified by somatic mutation and possibly by further rearrangements, or "receptor editing". Here, we have analysed the pairings of heavy and light chain variable domains (VH and VL) in 365 human IgG+ B cells from peripheral blood, and established that these pairings are largely random. The repertoire is dominated by a limited number of pairings of segments and folds. Among these pairings we identified two identical mutated heavy chains in combination with two different mutated light chains (one kappa and one lambda). This shows that receptor editing occurs in the human periphery and that the same antibody lineage can be subjected to both receptor editing and somatic hypermutation. This suggests that receptor editing may be used together with somatic mutation for the affinity maturation of antibodies. We also propose that receptor editing has shaped variable gene segment use and the evolution of V gene families.

Amino Acid Sequence↗
PubMed1985

Plasticity of the central nervous system--a neurosurgeon's experience of cerebral compensation and decompensation.

Cerebral plasticity constitutes one of the most decisive factors in recovery and readaptation after cerebral lesions. In contrast to the considerable progress in current studies on normal neuronal plasticity including the idea of "l'homme neuronal", the concept of plasticity postulated by Albrecht Bethe in 1929 received little attention. The author, as a neurosurgeon, has tried to describe cranial morphological plasticity, morphological and functional plasticity in infantile encephalopathies and especially in hemiatrophic lesions. It is supposed that a true morphological substrate exists due to compensatory hyperplasia of the uninvolved hemisphere. Modern neurosurgical techniques have demonstrated that the functional plastic capacity is much larger than has been supposed, even in the elderly. Some aspects of the mechanisms of compensation and decompensation of cortical and subcortical structures as well as of the central regulation systems are discussed. The full extent of the amazing recovery and functional reorganization is reached by plastic capacity, personal motivation, adequate training and sufficient time. The contribution ends with an exposition of a personal philosophy concerning psycho-somatic dualism, the body-mind problem, the future of the human brain and the ethical outlook, based on the progressive biological evolution of the basal neocortex and the immanent functional development (H. Spatz).

Adaptation, Physiological↗
PubMed1996

Neuromuscular physiology and pharmacology of parasitic flatworms.

The trematode and cestode flatworms include numerous parasitic forms of major medical and economic importance. A better knowledge of the neuromuscular physiology of these animals could lead to development of new control measures against these parasites. Since these animals are near the stem from which all other animals have evolved, better knowledge of these animals could also yield valuable information about the early evolution of nerve and muscle systems in the animal kingdom. This review focuses on what is known about the characteristics of the somatic muscle in these animals. The anatomy of the muscles is described along with a review of current information about their electrophysiology, including descriptions of the ion channels present. Also included is a summary of recently acquired data concerning the nature of serotonin, peptide, acetylcholine and glutamate receptors on the membranes of the muscles.

Animals↗
PubMed2004

Positive selection at reproductive ADAM genes with potential intercellular binding activity.

Many genes with a role in reproduction, including those implicated in fertilization and spermatogenesis, have been shown to evolve at a faster rate relative to genes associated with other functions and tissues. These survey studies usually group a wide variety of genes with different characteristics and evolutionary histories as reproductive genes based on their site of expression or function. We have examined the molecular evolution of the ADAM (a disintegrin and metalloprotease) gene family, a structurally and functionally diverse group of genes expressed in reproductive and somatic tissue to test whether a variety of protein characteristics such as phylogenetic clusters, tissue of expression, and proteolytic and adhesive function can group fast evolving ADAM genes. We found that all genes were evolving under purifying selection (d(N)/d(S) < 1), although reproductive ADAMs, including those implicated in fertilization and spermatogenesis, evolved at the fastest rate. Genes with a role in binding to cell receptors in endogenous tissue appear to be evolving under purifying selection, regardless of the tissue of expression. In contrast, positive selection of codon sites in the disintegrin/cysteine-rich adhesion domains was detected exclusively in ADAMs 2 and 32, two genes expressed in the testis with a potential role in sperm-egg adhesion. Positive selection was detected in the transmembrane/cytosolic tail region of ADAM genes expressed in a variety of tissues.

ADAM Proteins↗
PubMed1977

The status of the gene map of the human chromosomes.

In man, the specific chromosome that carries each of about 210 gene loci is known. These loci include at least one assigned to each chromosome (including the Y), about 110 assigned to specific autosomes, and about 100 to the X chromosome. For many loci, information on regional chromosomal localization is also available. The information comes mainly from studies in families and somatic cell hybrids, as well as an intgratsight of results from the two methods. Knowledge of the chromosome map gives insight into evolution, chromosomal organization in relation to genetic control mechanisms, and the pathogenesis of neoplasms and malformations. Furthermore, it is useful in prenatal or premorbid diagnosis of hereditary diseases.

Alleles↗
PubMed2004

The B chromosomes in Brachycome.

This review presents a historical account of studies of B chromosomes in the genus Brachycome Cass. (synonym: Brachyscome) from the earliest cytological investigations carried out in the late 1960s though to the most recent molecular analyses. Molecular analyses provide insights into the origin and evolution of the B chromosomes (Bs) of Brachycome dichromosomatica, a species which has Bs of two different sizes. The larger Bs are somatically stable whereas the smaller, or micro, Bs are somatically unstable. Both B types contain clusters of ribosomal RNA genes that have been shown unequivocally to be inactive in the case of the larger Bs. The large Bs carry a family of tandem repeat sequences (Bd49) that are located mainly at the centromere. Multiple copies of sequences related to this repeat are present on the A chromosomes (As) of related species, whereas only a few copies exist in the A chromosomes of B. dichromosomatica. The micro Bs share DNA sequences with the As and the larger Bs, and they also have B-specific repeats (Bdm29 and Bdm54). In some cases repeat sequences on the micro Bs have been shown to occur as clusters on the A chromosomes in a proportion of individuals within a population. It is clear that none of these B types originated by simple excision of segments from the A chromosomes.

Chromosomes, Plant↗
PubMed1992

Clinical study of schizophrenia--application of jacksonism.

Factors influencing prognosis and relapses in schizophrenia were investigated systematically. The results were agreed with Jacksonism. Data were collected from 166 patients who suffered relapses and were readmitted to hospital from November 15, 1971, to December 31, 1974. The psychiatric symptoms were classified from A to G, positive to negative. The initial symptoms were divided into 4 groups. There was interrelation between the somatic and psychiatric symptoms; in the initial symptoms and prognosis, courses, and psychiatric symptoms. Based on my results, I suggest that an evolutional and hierarchical interpretation, which Jackson emphasized, in the correlation between brain and mind is applicable in the psychopathology of schizophrenia.

Adolescent↗