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At least 811 records · Page 45Linked to original sources
PubMed2002

[Teaching reform of hybridization experiment of Drosophila melanogaster].

The paper is concerned about a teaching and learning reform of hybridization experiment of Drosophila melanogaster. In the teaching of genetic experiment, we have adopted a new teaching and learning method which was a discovering way instead of traditional method. In this way, students themselves selected the combination subject, put forward and carried out the whole experiment scheme. By the reform,we could find out that it was helpful not only to improve students' thinking and operating abilities but also to encourage their interests in genetics.

English Abstract↗
PubMed1994

Species selection on organismal integration.

Selection processes of entities higher than individuals have recently been suggested to play a potential role in macroevolution. In particular, population level traits such as variability seem likely candidates for higher-level selection processes because they interact with population fitness (survival). In this paper, I expand on that theme and argue that a population level trait, such as organismal integration, measured by the genetic variance-covariance matrix, can be subject to interpopulational selection. This is so because a population consisting of individuals with a high degree of integration will respond faster to selection than a less integrated one, and thus more rapidly reach new optima. This idea generates a number of predictions which are supported by data from natural and laboratory populations of a diverse array of organisms. First, the level of genetic integration in morphological characters is generally quite high. Second, there are a number of cases where the within- and among-population correlation matrices are similarly oriented. Third, the main pattern of morphological variation in birds is that species within genera are most exclusively oriented along a size-axis. These results are consistent with the ideas put forward in this paper, though not providing conclusive evidence.

Animals↗
PubMed2004

Unravelling the genetics of prostate cancer.

This review describes what is currently known about the genetics of prostate cancer. Traditionally, the genetics of a suspected inherited cancer predisposition have generally been thought of in terms of a single, high-risk gene with a dominant mode of inheritance. Such a gene might be observed in families, as has been documented in familial breast cancer (BRCA1/2), familial colorectal cancer (HNPCC), retinoblastoma (RB1), and Wilms tumor (WT1). This review investigates the evidence for the existence, first of familial prostate cancer, and second, for the presence of such a high-risk gene in those families by epidemiological and experimental approaches. Another current area of interest in prostate cancer is the investigation of the contribution of common lower penetrance genes to the disease. This alternative approach has become popular, as it raises the issue of frequently seen genetic variations such as single nucleotide polymorphisms (SNPs) having relevance to the risk of developing the disease. Finally, this article will explore the way forward, with emphasis on worldwide collaboration from teams attempting to find the genes responsible for the disease and investment in new technologies that will aid in their discovery.

Genetic Predisposition to Disease↗
PubMed2000

CYP2A6 genetic polymorphisms and liver microsomal coumarin and nicotine oxidation activities in Japanese and Caucasians.

Genotypes of CYP2A6, namely CYP2A6(*)1 (wild-type), CYP2A6(*)2, and CYP2A6(*)3, were examined in liver DNA of 39 Japanese and 43 Caucasians using two-step polymerase chain reaction (PCR) methods. We first amplified a DNA fragment (1725 bp) located between near middle of exon 1 and end of exon 4 of the CYP2A6 gene and further amplified using a forward primer 't' or 'mut' (middle of exon 3) and a reverse primer 'E3R' (middle of intron 3) for the detection of CYP2A6(*)2-genetic polymorphism. The 1725 bp fragment was also used for the amplification between exon 3 and near middle of intron 3 of the CYP2A6 gene and the fragment thus obtained digested with XcmI or DdeI to detect and confirm the CYP2A6(*)2- and CYP2A6(*)3-types, respectively. Only one DNA sample from a Japanese origin (J18) was not amplified by CYP2A6-specific primers; liver microsomes from this individual had very low activity of coumarin 7-hydroxylation and were devoid of protein(s) immunoreactive to anti-CYP2A6 antibody. Thus, this individual was suggested to be due to the gene deletion in CYP2A6. By analyzing the remaining 38 Japanese and 43 Caucasians, we found that there were no cases of CYP2A6(*)3-type polymorphism in the samples examined in this study, and no cases of CYP2A6(*)2-type polymorphism in the Japanese samples. Of Caucasians studied two individuals were classified into heterozygous CYP2A6(*)1/(*)2-type. Liver microsomal coumarin 7-hydroxylation activities in these two Caucasians were found to be lower than those of the other 41 Caucasians. Kinetic analysis showed that two CYP2A6(*)1/(*)2 individuals had a very low ratio of V(max) to K(m) for nicotine C-oxidation as well as coumarin 7-hydroxylation in liver microsomes, compared with those of homozygous CYP2A6(*)1-type. These results suggest that among 39 Japanese and 43 Caucasians examined one Japanese is classified to be CYP2A6 gene deletion and two Caucasians are heterozygous CYP2A6(*)1/(*)2-genotype. Thus the race-related differences in the occurrence of CYP2A6 genetic polymorphisms were supported.

Aryl Hydrocarbon Hydroxylases↗
PubMed2001

Cambridge Healthtech Institute's Third Annual Conference on human genetic variation. 16-18 October 2000, Philadelphia, Pennsylvania, USA.

A major goal of pharmacogenomics is to identify the human genetic variation that influences susceptibility to complex diseases. Recently, theoretical statistical analyses have suggested that genes for complex diseases may be found by linkage disequilibrium (i.e., association). Single nucleotide polymorphism (SNP) susceptibility alleles for common diseases can occur at high frequencies in various populations and, thus, have a major impact on morbidity and mortality. To be successful, SNP mapping studies require successful teamwork, integrating clinicians, epidemiologists, molecular genetics experts, laboratory automation engineers, bioinformatics and database experts. New statistical methods are also developing rapidly and promise to further increase the power of these studies. A recent conference on human genetic variation provided an opportunity for experts in all of these disciplines to exchange ideas. At present, great technological challenges need to be overcome in order to increase the throughput greatly while lowering cost and still maintaining high accuracy for SNP genotyping. Although this approach is relatively new (at least on the scale now being contemplated), the large payoffs anticipated to accrue from the successful mapping of SNPs in disease genes has led the area to be very strongly supported by both public and private funding sources. The potential payoff for improving disease diagnosis and therapeutic efficacy, with better avoidance of adverse events based on SNP associations, is providing a tremendous incentive to move this effort forward at an ever-accelerating pace.

Genetic Predisposition to Disease↗
PubMed1999

Iberia: population genetics, anthropology, and linguistics.

Basques, Portuguese, Spaniards, and Algerians have been studied for HLA and mitochondrial DNA markers, and the data analysis suggests that pre-Neolithic gene flow into Iberia came from ancient white North Africans (Hamites). The Basque language has also been used to translate the Iberian-Tartesian language and also Etruscan and Minoan Linear A. Physical anthropometry of Iberian Mesolithic and Neolithic skeletons does not support the demic replacement in Iberia of preexisting Mesolithic people by Neolithic people bearing new farming technologies from Europe and the Middle East. Also, the presence of cardial impressed pottery in western Mediterranean Europe and across the Maghreb (North Africa) coasts at the beginning of the Neolithic provides good evidence of pre-Neolithic circum-Mediterranean contacts by sea. In addition, pre-dynastic Egyptian El-Badari culture (4,500 years ago) is similar to southern Iberian Neolithic settlements with regard to pottery and animal domestication. Taking the genetic, linguistic, anthropological, and archeological evidence together with the documented Saharan area desiccation starting about 10,000 years ago, we believe that it is possible that a genetic and cultural pre-Neolithic flow coming from southern Mediterranean coasts existed toward northern Mediterranean areas, including at least Iberia and some Mediterranean islands. This model would substitute for the demic diffusion model put forward to explain Neolithic innovations in Western Europe.

Anthropology↗
PubMed1975

Azaguanine-resistant mutants induced by several mutagens in a neurospora heterokaryon.

This paper reports the development of a new system for the detection of forward mutations in a heterokaryon of Neurospora crassa. This system, designed to detect a wide variety of genetic alterations, is based upon the detection of 8-azaguanine-resistant mutants in an adenine-requiring heterokaryon carrying the aza-3 gene. Induction of mutations in the aza-3 gene was detected after treatment of conidia with ultraviolet light, X-rays, ethyl methanesulfonate (EMS), or the acridine mustard, ICR-170. The pattern of appearance of mutant colonies and various factors in mutant selection are discussed.

Acridines↗
PubMed1995

The concept of trophic units in the central nervous system.

The present paper proposes that trophic interplay among cells may represent the final common pathway for both genetic and environmental influences, and hence new criteria for the understanding of central nervous system (CNS) connectivity can be suggested. In particular, trophic signals may make up the common "language" through which genetic and epigenetic influences mold the CNS during development and the adult life. Furthermore, it will put forward the hypothesis that the developmental trophic interplay among cells leads to the formation of trophic units in the adult brain. A trophic unit is defined as the smallest set of cells, within the CNS, which act in a complementary way to support each other's trophism. The trophic units consist of neurons, glial cells, blood vessels, extracellular matrix (ECM). In particular, ECM gives support to the thin elongated cell processes and gives rise to selective chemical bridges between cell surfaces or between cell surfaces and the extracellular milieu. The trophic unit is a plastic device that not only assures neuronal survival, but also operates to adapt neuronal networks to new tasks by controlling extension of neuronal processes, synapse turnover and ECM characteristics. These plastic responses depend on the interplay of all the elements that constitute the trophic units. The concept of trophic unit may help to understand some features of neurodegenerative diseases, for example, the clustering of tangles in the neocortex and in the entorhinal cortex of Alzheimer's patients [corrected].

Animals↗
PubMed2005

Inflammatory markers of disease severity in acute pancreatitis.

To date, CRP remains the single standard biochemical marker for predicting the severity of AP. Because the combination of clinico-physiological scores and CRP provides good information at 48 hours, research has focused on the predictive ability of various markers when applied in the initial 24 hours after admission to the hospital. After detailed review of the literature, the authors conclude that there is no single tool that serves as the optimal predictor of severity. There are, however, data supporting the use of certain tests to improve upon the clinician's early predictive ability on the subsequent course of AP. These include an APACHE II score greater than seven, IL-6 at the time of admission, and urine TAP, urine trypsinogen-2,and serum PMN-elastase at 24 hours (Box 1). These markers will only be able to help the clinician's predictive ability if they can be performed locally and if the results can be available in a timely manner. Future research should focus on markers such as procalcitonin, IL-8, IL-I ra, sTNFR,CAPAP, PLA-2, novel markers, and the combined use of more than one marker. The conventional research approach in predicting severity used in the last15 years has limitations and appears to have reached its maximal potential. Novel conceptions and approaches, such as identification of genetic polymorphisms that predispose to severe course and complications of AP, are needed for a quantum step forward.

Acute Disease↗
PubMed1995

Enhancement of RecA strand-transfer activity by the RecJ exonuclease of Escherichia coli.

We have examined coupled reactions with the RecA protein of Escherichia coli, which can mediate DNA strand exchange in vitro between homologous DNA molecules, and the RecJ exonuclease, a 5' to 3' single-stranded DNA exonuclease. In RecA-mediated strand-transfer reactions between circular single-stranded and duplex linear DNA, we have found that RecJ stimulates the rate of heteroduplex product formation. Because RecJ must be present concurrent with strand transfer and RecJ does not detectably stimulate the synapsis stage of the reaction, we believe that RecJ stimulates specifically the branch migration phase of the RecA strand-transfer reaction. RecJ also dramatically enhances the efficiency with which RecA is able to transverse regions of non-homology in the substrates. We propose a model where RecJ degrades the displaced strand produced by strand exchange which competes for pairing with the transferred strand, thus driving forward the unidirectional branch migration mediated by RecA protein. This suggests a new role for exonucleases in genetic recombination, facilitating the strand-transfer reaction itself.

DNA↗
PubMed2000

Inherited variability of the mitochondrial genome and successful aging in humans.

Increasing data indicate that polymorphic variants of nuclear loci can affect rate and quality of aging in humans. However, the mitochondrial genome is another good candidate, because of the central role played by mitochondrial genes in oxidative phosphorylation (OXPHOS) and cell metabolism. A characteristic of the mitochondrial genome (mtDNA) is the high level of interindividual variability that ensues from high mutation rate and unilinear inheritance. Related groups of germline/inherited mtDNA polymorphisms (haplogroups) have been identified as continent-specific sets of stable/ancient/associated restriction fragment length polymorphisms in the mtDNA coding region, representing markers capable of exactly depicting the mtDNA pool of a specific population. The hypothesis can be put forward that mtDNA variants included in a haplogroup may have similar OXPHOS efficiency and therefore act as genetic factors predisposing to individual successful or unsuccessful aging. This idea can be explored by sampling groups of individuals of different ages from a well-defined population and comparing the pools of mtDNA haplogroups between samples. The results obtained by screening mtDNA haplogroups in about 800 Italians of different ages, including more than 200 centenarians, agree with the hypothesis that the inherited variability of the mitochondrial genome is associated with the chance of successful aging and longevity in humans.

Aging↗
PubMed2001

An evaluation of the accuracy of shallow water matched field inversion results.

In this article the accuracy of geo-acoustic and geometric parameter estimates obtained through matched field inversion (MFI) was assessed. Multi-frequency MFI was applied to multi-tone data (200-600 Hz) received at a 2-km source/receiver range. The acoustic source was fixed and the signals were received at a vertical array. Simultaneously with the acoustic transmissions, a CTD (conductivity, temperature and depth)-chain was towed along the acoustic track. A genetic algorithm was used for the global optimization, whereas a normal mode model was applied for the forward acoustic calculations. Acoustic data received at consecutive times were inverted and the stability of the inverted parameters was determined. Also, the parameter estimates were compared with independent measurements, such as multi-channel seismic surveys (for geo-acoustic parameters). The obtained uncertainty in the inversion results was assumed to have two distinct origins. The first origin is the inversion method itself, since each optimization will come up with some solution close to the exact optimum. Parameter coupling and the fact that some parameters hardly influence the acoustic propagation further contribute to this uncertainty. The second is due to oceanographic variability. Both contributions were evaluated through simulation. The contribution of oceanographic variability was evaluated through synthetic inversions that account for the actual sound speed variations as measured by the towed CTD-chain.

Journal Article↗
PubMed2002

Biochemical and genetic evidence for the involvement of yeast Ypt6-GTPase in protein retrieval to different Golgi compartments.

Yeast Ypt6p, the homologue of the mammalian Rab6 GTPase, is not essential for cell viability. Based on previous studies with ypt6 deletion mutants, a regulatory role of the GTPase either in protein retrieval to the trans-Golgi network or in forward transport between the endoplasmic reticulum (ER) and early Golgi compartments was proposed. To assess better the primary role(s) of Ypt6p, temperature-sensitive ypt6 mutants were generated and analyzed biochemically and genetically. Defects in N-glycosylation of proteins passing the Golgi and of Golgi-resident glycosyltransferases as well as protein sorting defects in the trans-Golgi were recorded shortly after functional loss of Ypt6p. ER-to-Golgi transport and protein secretion were delayed but not interrupted. Mis-sorting of the vesicular SNARE Sec22p to the late Golgi was also observed. Combination of the ypt6-2 mutant allele with a number of mutants in forward and retrograde transport between ER, Golgi, and endosomes led to synthetic negative growth defects. The results obtained indicate that Ypt6p acts in endosome-to-Golgi, in intra-Golgi retrograde transport, and possibly also in Golgi-to-ER trafficking.

Endoplasmic Reticulum↗
PubMed1981

The sequence of IS4.

IS-elements are devoid of easily recognizable transacting functions and exert their visible effects in the position cis only (recent reviews Calos and Miller 1980; Starlinger 1980). It has been a matter of debate, whether these elements encode functions for their own transposition. In the case of the E. coli IS-elements this could not easily be determined by genetic methods, because most of these elements are present in several copies (Saedler and Heiss 1973; Deonier et al. 1979). In the case of the IS-elements flanking transposons, evidence has recently been brought forward that these carry the transposition specificity (Rothstein et al. 1980; Kleckner 1980; Grindley 1981). IS4 is present in one copy only in several E. coli K12 strains and should, therefore, be suitable for genetic and physiological studies (Chadwell et al. 1979). It has been cloned from several sites on the E. coli chromosome in pBR322 (Klaer and Starlinger 1980). Here we report the DNA sequence of IS4 which contains an open reading frame for 442 amino acids, and of the junctions of this element with surrounding DNA at three different sites in the E. coli chromosome.

Base Sequence↗