Models of mitochondrial DNA transmission genetics and evolution in higher eucaryotes.
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Animals↗
Biomedical subjects
J C Stephens
Publications and source records attributed to J C Stephens.
Homozygosity and patch structure in plant populations as a result of nearest-neighbor pollination.
The population genetic consequences of nearest-neighbor pollination in an outcrossing plant species were investigated through computer simulations. The genetic system consisted of two alleles at a single locus in a self-incompatible plant that mates by random pollen transfer from a neighboring individual. Beginning with a random distribution of genotypes, restricted pollen and seed dispersal were applied each generation to 10,000 individuals spaced uniformly on a square grid. This restricted gene flow caused inbreeding, a rapid increase in homozygosity, and striking microgeographic differentiation of the populations. Patches of homozygotes bordered by heterozygotes formed quickly and persisted for many generations. Thus, high levels of inbreeding, homozygosity, and patchiness in the spatial distribution of genotypes are expected in plant populations with breeding systems based on nearest-neighbor pollination, and such observations require no explanation by natural selection or other deterministic forces.
Journal Article↗
Fetal movement patterns: a possible means of defining neurologic developmental milestones in utero.
Phased-array ultrasonography provides a means for continuous observation of moving structures. This method can be used for assessing fetal movements from the middle of the first trimester. Eleven separate spontaneous movement patterns were defined in 40 examinations of clinically normal women (6 weeks to term). A trend of increasingly complex movement with advancing gestational age was noted with indication that discrete developmental events such as isolated body extension, thumb sucking, or repetitive chest wall excursions can be recognized. Fetal movement responses to a simple pressure stimulus were noted.
Female↗
Guanosine 5'-diphosphate 3'-diphosphate (ppGpp): positive effector for histidine operon transcription and general signal for amino-acid deficiency.
Maximal expression of the histidine operon of Salmonella typhimurium in a coupled in vitro transcription-translation system is strongly dependent upon addition of guanosine 5'-diphosphate 3'-diphosphate (ppGpp). This requirement for ppGpp is exerted at the level of transcription through a mechanism distinct from the his-operon-specific regulatory mechanism. In vivo derepression of the his operon is markedly defective when histidine starvation is imposed on a relA mutant--unable to rapidly increase synthesis of ppGpp--growing in amino-acid-rich medium. Increased sensitivity of relA mutants to growth inhibition by a number of amino-acid analogs suggests that ppGpp is generally important in adjusting expression of amino-acid-producing systems. Analysis of these findings leads us to propose that ppGpp is a positive effector in a system that enables the cell to balance endogenous amino-acid production with environmental conditions of amino-acid availability, and to compensate efficiently for transient changes in these conditions. We propose a unifying theory of the role of ppGpp as the general signal molecule (alarmone) in a "super-control" which senses an amino-acid deficiency and redirects the cell's economy in response.
Amino Acids↗
Pharmacodynamic distinctions between ouabain, digoxin and digitoxin.
Current pharmacologic texts recognize no significant pharmacodynamic differences between the various cardiac glycosides. To reconsider this concept, a special recording device was constructed so that electrocardiograms and phonocardiograms could be obtained in small mammals without anesthesia or premedication, and a spectrum of cardiac glycosides was studied. Utilizing guinea-pigs, cardiac rate reduction of 20% was sought and achieved with 0.07 mg/kg ouabain, 0.34 mg/kg digoxin and 1.12 mg/kg digitoxin. With comparable rate reduction, digitoxin produced significantly greater shortening of electro-mechanical systole than did ouabain or digoxin (P less than 0.05). Other authors have shown that cardiac glycosides produce slowing of cardiac rate prior to onset of positive inotropic effect. Therefore it is probable that for a given amount of vagal effect (sinoatrial slowing) digitoxin possesses greater positive inotropic effect (abbreviation of electromechanical systole) in guinea-pigs than do ouabain or digoxin. A review of the literature suggests that the same holds true for humans.
Animals↗
Analytical DNA fingerprinting in lions: parentage, genetic diversity, and kinship.
The application of hypervariable minisatellite genomic families to the reconstruction of population genetic structure holds great promise in describing the demographic history and future prospects of free-ranging populations. This potential has not yet been realized due to unforeseen empirical constraints associated with the use of heterologous species probes, to theoretical limitations on the power of the procedure to track genic heterozygosity and kinship, and to the absence of extensive field studies to test genetic predictions. We combine here the technical development of feline-specific VNTR (variable number tandem repeat) families of genetic loci with the long-term demographic and behavioral observations of lion populations of the Serengeti ecosystem in East Africa. Minisatellite variation was used to quantify the extent of genetic variation in several populations that differed in their natural history and levels of inbreeding. Definitive parentage, both maternal and paternal, was assessed for 78 cubs born in 11 lion prides, permitting the assessment of precise genealogical relationships among some 200 lions. The extent of DNA restriction fragment sharing between lions was empirically calibrated with the coefficient of relatedness, r, in two different populations that had distinct demographic histories. The results suggest that reliable estimates of relative genetic diversity, of parentage, and of individual relatedness can be achieved in free-ranging populations, provided the minisatellite family is calibrated in established pedigrees for the species.
Animals↗
Linkage disequilibrium in admixed populations: applications in gene mapping.
A method to detect linkage of genetic traits to polymorphic DNA markers in outbred populations when pedigree analysis is not feasible is presented. The procedure takes advantage of increased linkage disequilibrium that occurs when isolated races or subspecies mate and interbreed. By selecting restriction fragment length polymorphism (RFLP) or microsatellite marker loci that have different allele frequencies in admixed populations, genetic associations produced de novo by hybridization will persist as a function of theta (map distance) for 10-20 generations after initial interbreeding. By careful selection of loci and study populations, the procedure detects linkage of traits otherwise refractory to linkage analysis.
Alleles↗