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Genomic complexity and plasticity of Burkholderia cepacia 总被引:6,自引:1,他引:5
Thomas G. Lessie William Hendrickson Brendan D. Manning Richard Devereux 《FEMS microbiology letters》1996,144(2-3):117-128
Abstract Burkholderia cepacia has attracted attention because of its extraordinary degradative abilities and its potential as a pathogen for plants and for humans. This bacterium was formerly considered to belong to the genus Pseudomonas in the γ-subclass of the Proteobacteria , but recently has been assigned to the β-subclass based on rrn gene sequence analyses and other key phenotypic characteristics. The B. cepacia genome is comprised of multiple chromosomes and is rich in insertion sequences. These two features may have played a key role in the evolution of novel degradative functions and the unusual adaptability of this bacterium. 相似文献
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155.
High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders. 总被引:10,自引:2,他引:8 下载免费PDF全文
G. H. Thomas 《American journal of human genetics》1996,58(6):1364-1368
In this paper I suggest that a vastly higher rate of de novo mutations in males than in females would explain some, if not most, X-linked dominant disorders associated with a low incidence of affected males. It is the inclusion of the impact of a high ratio of male:female de novo germ-line mutations that makes this model new and unique. Specifically, it is concluded that, if an X-linked disorder results in a dominant phenotype with a significant reproductive disadvantage (genetic lethality), affected females will, in virtually all cases, arise from de novo germ-line mutations inherited from their fathers rather than from their mothers. Under this hypothesis, the absence of affected males is explained by the simple fact that sons do not inherit their X chromosome (normal or abnormal) from their fathers. Because females who are heterozygous for a dominant disorder will be clinically affected and will, in most cases, either be infertile or lack reproductive opportunities, the mutant gene will not be transmitted by them to the next generation (i.e., it will be a genetic lethal). This, not gestational lethality in males, may explain the absence of affected males in most, if not all, of the 13 known X-linked dominant diseases characterized by high ratios of affected female to male individuals. Evidence suggesting that this mechanism could explain the findings in the Rett syndrome is reviewed in detail. 相似文献
156.
Patricia Kramer Jennifer Yount Thomas Mitchell Dante LaMorticella Roque Carrero-Valenzuela Everett Lovrien Irene Maumenee Michael Litt 《Genomics》1996,35(3):539
Congenital cataracts are one of the most common major eye abnormalities and often lead to blindness in infants. At least a third of all cases are familial. Within this group, highly penetrant, autosomal dominant forms of congenital cataracts (ADCC) are most common. ADCC is a genetically heterogeneous group of disorders, in which at least eight different loci have been identified for nine clinically distinct forms. Among these, Armitageet al.(Nature Genet.9: 37–40, 1995) mapped a gene for cerulean blue cataracts to chromosome 17q24. Bodkeret al.(Am. J. Med. Genet.37: 54–59, 1990) described a large family with cerulean blue cataracts, in which the affected daughter of affected first cousins was presumed to be homozygous for the purported gene. We report linkage in this family to the region on chromosome 22q that includes two β crystallin genes (CRYBB2, CRYBB3) and one pseudogene (CRYBB2P1). The affected female in question is homozygous at all markers. 相似文献
157.
James H. Asher Jr. Ronald W. Harrison Robert Morell Melisa L. Carey Thomas B. Friedman 《Genomics》1996,34(3):285
Waardenburg syndrome type 1 is caused by mutations inPAX3.Over 50 humanPAX3mutations that lead to hearing, craniofacial, limb, and pigmentation anomalies have been identified. APAX3mutant allele, segregating in a family, can show reduced penetrance and variable expressivity that cannot be explained by the nature of the mutation alone. TheMus musculus Pax3mutationSpd(Splotch-delayed, Pax3[formula]), coisogenic on the C57BL/6J (B6) genetic background, produces in heterozygotes a white belly spot with 100% penetrance and very few other anomalies. By contrast, manySpd/+ BC1progeny [F1♀Spd/+ (♀Spd/+ B6× ♂ +/+Mus spretus) × ♂ +/+ B6] exhibit highly variable craniofacial and pigmentary anomalies. Of the BC1Spd/+ progeny, 23.9% are estimated to be nonviable, and 32.1% are nonpenetrant for the white belly spot. The penetrance and expressivity of theSpd/+ genotype are controlled in part by the genetic background and the sex of the individual. A minimum of two genes interact withSpdto influence the craniofacial features of these mice. One of these genes may be either X-linked or sex-influenced, while the other is autosomal. TheA-locus (Agouti) or a gene closely linked toAalso plays a role in determining craniofacial features. At least one additional gene, possibly theA-locus or a gene linked toA,interacts withSpdand determines the presence and size of the white belly spot. The viability of BC1mice is influenced by at least three factors:Spd,A-locus alleles or a gene closely linked to theA-locus, and the sex of the mouse. These BC1mice provide an opportunity to identify genes that interact with and modify the expression ofPax3and serve as a model to identify the genes that modify the expression of humanPAX3mutations. 相似文献
158.
Production of fuel alcohol from oats by fermentation 总被引:1,自引:0,他引:1
Very high gravity (>30 g dissolved solids per 100 ml) mashes were prepared from hulled and hulless oats and fermented at 20° C with active dry yeast to produce ethanol. Excessive viscosity development during mashing was prevented by hydrolyzing -glucan with crude preparations of -glucanase or Biocellulase. Both these preparations possessed endo--glucanase activity. By using these enzymes and by decreasing the water to grain ratio, very high gravity mashes with low viscosity were prepared. Unlike wheat and barley mashes, oat mashes contained sufficient amounts of assimilable nitrogen to promote a fast rate of fermentation. The free amino nitrogen (FAN) content of oat mash could be predicted by the equation, mg FAN L–1=8.9n wheren is the number of grams of dissolved solids in 100 ml of mash supernatant fluid. Ethanol yields of 353.2±3.7 L and 317.6±1.3 L were obtained per tonne (dry weight basis) of hulless (59.8% starch) and hulled (50.8% starch) oats respectively. The efficiency of conversion of starch to ethanol was the same in normal and very high gravity mashes. 相似文献
159.
160.
A redox imbalance caused by an over-production of prooxidants or a decrease in antioxidants seems to play a role in the programmed cell death that occurs in various developmental programs. Such a physiological function for oxidative stress is particularly applicable to the immune system, wherein individual lymphocytes undergo continuous scrutiny to determine if they should be preserved or programmed to die. Following activation, lymphocytes produced increased levels of reactive oxygen species (ROS) which may serve as intracellular signaling molecules. The ultimate outcome of this increased ROS formation, i.e., lymphocyte proliferation versus programmed cell death, may be dictated by macrophage-derived costimulatory molecules that bolster or diminish lymphocyte antioxidant defenses. HIV-1-infected individuals display multiple symptoms of redox imbalance consistent with their being in oxidative stress, and lymphocytes from such individuals are more prone to undergo apoptosis in vitro. It is suggested that oxidative stress is a physiological mediator of programmed cell death in lymphoid cells, and that HIV disease represents an extreme case of what can happen when regulatory safeguards are compromised. 相似文献