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PubMed1976

Structural variability of human chromosome 9 in relation to its evolution.

Human chromosome 9 shows a high susceptibility for structural rearrangements, particularly pericentric inversions, which often are transmitted. Three types of pericentric inversions can be observed on No. 9: 1) Type I, showing the total constitutive heterochromatin in the short arm. 2) Type II with part of the C heterochromatin on the short arm, the rest located on the long arm proximal to the centromere. 3) Type III: a subtelocentric chromosome with part of the C heterochromatin in the very short arm and the rest located interstitially on the long arm. With these inversions as well as with other structural rearrangements, e.g. translocations, the break-points are located preferentially within the C heterochromatin or close to the heterochromatic-euchromatic junctions. These findings are in contrast to the findings in lymphocytes from 5 patients with fancomi's and after irradiation in vitro, reported in the literature. In lymphocytes break-points seem to be distributed more or less by chance. These observations together led us to speculate that human chromosome 9 primarily was an acrocentric chrosome; in morphology and at least in some functions similar to D- and G-group chromosomes. During evolution this acrocentric chromsome changed to a submetacentric one due to a pericentric inversion.

Animals↗
PubMed1988

Back muscle function during bipedal walking in chimpanzee and gibbon: implications for the evolution of human locomotion.

The evolution of erect posture and locomotion continues to be a major focus of interest among paleoanthropologists and functional morphologists. To date, virtually all of our knowledge about the functional role of the back muscles in the evolution of bipedalism is based on human experimental data. In order to broaden our evolutionary perspective on the vertebral region, we have undertaken an electromyographic (EMG) analysis of three deep back muscles (multifidus, longissimus thoracis, iliocostalis lumborum) in the chimpanzee (Pan troglodytes) and gibbon (Hylobates lar) during bipedal walking. The recruitment patterns of these three muscles seen in the chimpanzee closely parallel those observed in the gibbon. The activity patterns of multifidus and longissimus are more similar to each other than either is to iliocostalis. Iliocostalis recruitment is clearly related to contact by the contralateral limb during bipedal walking in both species. It is suggested that in both the chimpanzee and gibbon, multifidus controls trunk movement primarily in the sagittal plane, iliocostalis responds to and adjusts movement in the frontal plane, while longissimus contributes to both of these functions. In many respects, the activity patterns shared by the chimpanzee and gibbon are quite consistent with recent human experimental data. This suggests a basic similarity in the mechanical constraints placed on the back during bipedalism among these three hominoids. Thus, the acquisition of habitual bipedalism in humans probably involved not so much a major change in back muscle action or function, but rather an improvement in the mechanical advantages and architecture of these muscles.

Animals↗
PubMed1979

Lymphoma development in mice and humans: diversity of initiation is followed by convergent cytogenetic evolution.

Human B cell lymphoma and murine T cell leukemia can be initiated by several agents. The present paper formulates some thoughts on the role of cytogenetic changes in the subsequent neoplastic process. Initiation creates long-lived preneoplastic cells. In some respects, they are comparable to in vitro-transformed ("immortalized") cell lines that maintain a diploid karyotype and are not tumorigenic in vivo. The development of a tumorigenic ("autonomous") clone is dependent on additional changes at the genetic level. In human B and murine T cell lymphoma, there are characteristic nonrandom chromosomal changes. The 14q+ marker appears to play a key role in human B cell lymphomas. The reciprocal 8;14 translocation in Burkitt lymphoma is a specialized subclass within this category. In murine T cell leukemia, trisomy 15 is the predominant change. The clustering of these nonrandom changes to tumors derived from a certain cell type rather than to tumors induced by a given etiological agent has important implications for the understanding of the genetic control of cellular responsiveness to growth-regulating forces in vivo.

AKR murine leukemia virus↗
PubMed1990

Unicausal theories of human canine evolution: are they sufficient?

Most theories of human canine evolution are unicausal and only purport to explain size and related shape changes in human canines. The present work tests whether one of the morphological changes, dulling of the distal edge of the maxillary canine, can be entirely explained as a byproduct of changes in the overall shape of the canine. The data show that the distal edge of maxillary canines of A. afarensis became far duller than would be predicted from changes in crown shape. The greater than expected dullness of the distal edge can be explained by evolutionary changes in the genetic field for cheek tooth morphology. This suggests that human canine evolution is complex and cannot be accounted for by unicausal theories.

Animals↗
PubMedDate not supplied

Familial Alzheimer's disease: genetic analysis related to disease heterogeneity, Down syndrome and human brain evolution.

Etiologically heterogeneous subgroups of patients with Alzheimer's disease (AD) exist and need to be distinguished so as to better identify genetic causes of familial cases. Furthermore, the presence of AD neuropathology in Down syndrome (trisomy 21) subjects older than 35 years suggests that AD in some cases is caused by dysregulation of expression of genes on chromosome 21. Cerebral metabolic abnormalities in life, and the distribution of AD neuropathology in the post-mortem brain, indicate that AD involves the association neocortices and subcortical regions with which they evolved during evolution of the human brain. Accordingly, understanding the molecular basis of this evolution should elucidate the genetic basis of AD, whereas knowing the genetics of AD should be informative about the genomic changes which promoted brain evolution.

Adult↗
PubMed1992

The hu-PBL-SCID mouse model. Long-term human serologic evolution associated with the xenogeneic transfer of human peripheral blood leukocytes into SCID mice.

We present a 2-year serologic analysis of severe combined immune deficiency (SCID) mice populated with human peripheral blood leukocytes (PBL, hu-PBL-SCID mice). After 10-20 x 10(6) PBL transfer, human IgG serum levels generally increased in the SCID mouse recipient for 2 months, and thereafter decreased without returning to zero for at least 2 years. Great variability existed between different hu-PBL-SCID mice with regard to Ig serum levels even when derived from the same donor's PBL aliquot. The ratio of IgM to IgG serum levels was lower in hu-PBL-SCID mice than in the donors. The half-life of human IgG in the SCID mouse is shorter than in the human (8 days vs 23 days), suggesting a much higher production of IgG than expected from serum levels. The majority of hu-PBL-SCID mouse sera analyzed by high resolution electrophoresis had a smear appearance suggestive of diverse human Ig, generally with superimposed multiple faint mIg. Few mice developed strong human mIg, associated with lymphoproliferative diseases. In the hu-PBL-SCID mouse model, the transfer of cells from donors making antibody with defined specificity against TT and nuclear antigen resulted in the appearance of these antibodies in only a minority of the recipients.

Animals↗
PubMed1979

Evolution of human longevity: a critical overview.

Evolution of longevity of the ungulates, carnivores and primates is reviewed. Special emphasis is focused on recent evolutionary history of longevity along the hominid ancestral-descendant sequence leading to modern man. Maximum life span potential (MLP) or the change in MLP is predicted in extinct species by (1) a phylogenetic analysis of the MLP of present living species and (2) an empirical equation using brain and body weight estimates from fossils. Both of these methods indicate MLP generally increased during mammalian evolution and at an extremely fast rate during the appearance of the hominid species. These results suggest that relatively few genetic alterations were necessary during the recent evolutionary history of man to significantly extend his innate ability to maintain mental and physical health. Much evidence indicates these genetic alterations principally involve regulatory genes, which control a conserved set of structural genes. Evolution of longevity in man could therefore be a result of simple changes in temporal and quantitative expression. Whether these genetic alterations result from mutational changes and/or chromosomal rearrangement cannot yet be evaluated.

Aging↗
PubMed1991

African populations and the evolution of human mitochondrial DNA.

The proposal that all mitochondrial DNA (mtDNA) types in contemporary humans stem from a common ancestor present in an African population some 200,000 years ago has attracted much attention. To study this proposal further, two hypervariable segments of mtDNA were sequenced from 189 people of diverse geographic origin, including 121 native Africans. Geographic specificity was observed in that identical mtDNA types are shared within but not between populations. A tree relating these mtDNA sequences to one another and to a chimpanzee sequence has many deep branches leading exclusively to African mtDNAs. An African origin for human mtDNA is supported by two statistical tests. With the use of the chimpanzee and human sequences to calibrate the rate of mtDNA evolution, the age of the common human mtDNA ancestor is placed between 166,000 and 249,000 years. These results thus support and extend the African origin hypothesis of human mtDNA evolution.

Africa↗
PubMed1977

Ethology and man: science or myth?

What is known of human evolution gives us little help in describing the biological nature of man: even our fossil history is obscure, and most statements on the evolution of human behaviour are guesses. The fact that primitive man was a predator on other species does not signify that man is "naturally aggressive" to his own kind. The notion of an inherent drive to aggression has no scientific foundation. Knowledge of the conduct of other species can lead to no valid conclusions about human behaviour. The same limitations apply to interpretations of modern man based on what is known of human hunter-gatherers. Ethology can contribute to human studies (1) by providing methods of observing and analysing behaviour, and (2) by providing hypotheses that can be tested. Zoologically-based hypotheses on the ill effects of crowding have been useful but have proved to be wrong. Others on the effects of stimulation in early life, and on breast-feeding and milk composition, have been more fruitful. Abnormal conduct, such as that of Kanner's syndrome, can be usefully studied by ethological methods. Man is a learner and a teacher, whose knowledge of himself increases slowly with the growth of critical research.

Aggression↗
PubMed1991

Historical contingencies in the evolution of human behavior and psychopathology.

Psychopathology may be understood as a product of evolution. Uniquely human capacities, such as human language and creative thinking, evolved out of a matrix of other capacities, including ancestral forms of learning. Applying evolutionary theory to the human nervous system, one might expect to find preexisting forms of learning in some form of coexistence with the recent evolutionary development of human symbolic functioning. A theory is presented in this paper which lays the groundwork for the claim that psychopathology may be understood as the product of interactions between adaptive schemes of different evolutionary origins. While earlier notions about evolution have been used to explain psychopathology (Freud 1913), this paper constitutes a reapplication of evolutionary theory to the problem of psychopathology from a modern perspective.

Adaptation, Psychological↗
PubMed1989

Model for the genetic evolution of human solid tumors.

A conceptual model is proposed for the genetic evolution of many human solid tumors that is based on the observations that cancer cells may spontaneously double their chromosome number; that cells with excessive chromosome numbers may be cytogenetically unstable, both losing chromosomes randomly during subsequent cell divisions, and often developing structural abnormalities in the chromosomes that are retained; and that some structural chromosome abnormalities may activate growth-promoting genes. The sequence of tetraploidization with chromosome loss can occur repeatedly in a given tumor. The available evidence supporting the model is reviewed. A computer simulation system that embodies these concepts is described and the model is used to generate distributions of chromosome number/cell under various simulated conditions and in a variety of simulated biological settings. A simulation of the time course of changes in chromosome number per cell that accompany the spontaneous neoplastic transformation of mouse fibroblasts in vitro is described. The best fit to the data was obtained when provision was made for the activation of at least two growth-promoting genes. The conditions for generating discrete aneuploid peaks in cytogenetic and flow cytometric studies were explored; our modeling studies suggest that the activation of a growth promoting gene is required in order to produce a discrete aneuploid peak. Our modeling studies suggest that the overrepresentation of individual oncogene-bearing chromosomes in aneuploid cell lines may require the activation of gene dose-dependent growth-promoting genes and is not likely to occur in cell lines in which at least two copies of each normal chromosome are required for cell survival. Overall, the results obtained using the model are consistent with a wide variety of flow cytometric and cytogenetic studies in human solid tumors.

Animals↗
PubMed1976

Auditory perception and speech evolution.

Human speech perception seems to involve the ability to recognize groupings of speech sounds rather than component phonemes, and to distinguish between permuted orders of items within sequences as holistic entities. Humans can use this Holistic Pattern Recognition (HPR) not only with speech and music, but also with sequences of arbitrarily selected sounds after very little practice. Infrahuman primates, cats, chinchillas, and birds also seem to employ HPR with auditory sequences. Further, there is recent evidence that animals unable to produce speech sounds can nevertheless discriminate between closely related phonemes. Thus, it appears that human speech perception employs prelinguistic abilities shared with other animals to distinguish between phonemic groupings. Of course, use of speech for communication also requires establishment of phonemic groupings as symbols, and sequential arrangement of these symbols, by rule, to convey the desired message. Identification of Components and their Order (ICO) for auditory sequences is limited to humans. ICO involves verbal categorization and storage of the names for successive auditory items as they appear, followed by retrieval or the names in the order stored. Thus, direct identification of the order of sounds within auditory sequences rests upon verbal ability, which provides an explanation for the difficulty that aphasics have in identifying order within nonverbal sequences. Much confusion in the literature on auditory sequence perception seems to have resulted from a failure to differentiate between HPR and ICO.

Animals↗