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Sample records for energy transfer-based genetically

  1. Resonant energy transfer based biosensor for detection of multivalent proteins.

    SciTech Connect

    Song, X.; Swanson, Basil I.

    2001-01-01

    We have developed a new fluorescence-based biosensor for sensitive detection of species involved in a multivslent interaction. The biosensor system utilizes specific interactions between proteins and cell surface receptors, which trigger a receptor aggregation process. Distance-dependent fluorescence self-quenching and resonant energy transfer mechanisms were coupled with a multivalent interaction to probe the receptor aggregation process, providing a sensitive and specific signal transduction method for such a binding event. The fluorescence change induced by the aggregation process can be monitored by different instrument platforms, e.g. fluorimetry and flow cytometry. In this article, a sensitive detection of pentavalent cholera toxin which recognizes ganglioside GM1 has been demonstrated through the resonant energy transfer scheme, which can achieve a double color change simultaneously. A detection sensitivity as high as 10 pM has been achieved within a few minutes (c.a. 5 minutes). The simultaneous double color change (an increase of acceptor fluorescence and a decrease of donor fluorescence intensity) of two similar fluorescent probes provides particularly high detection reliability owing to the fact that they act as each other's internal reference. Any external perturbation such as environmental temperature change causes no significant change in signal generation. Besides the application for biological sensing, the method also provides a useful tool for investigation of kinetics and thermodynamics of a multivalent interaction. Keywords: Biosensor, Fluorescence resonant energy transfer, Multivalent interaction, Cholera Toxin, Ganglioside GM1, Signal Transduction

  2. Energy Transfer Based Nanocomposite Scintillator for Radiation Detection

    NASA Astrophysics Data System (ADS)

    Aslam, Soha; Sahi, Sunil; Chen, Wei; Ma, Lun; Kenarangui, Rasool

    2014-09-01

    Scintillators are the materials that emit light upon irradiation with high energy radiation like X-ray or gamma-ray. Inorganic single crystal and organic (plastic and liquid) are the two most used scintillator types. Both of these scintillator kinds have advantages and disadvantages. Inorganic single crystals are expensive and difficult to grow in desire shape and size. Also, single crystal scintillator such as NaI and CsI are very hygroscopic. On the other hand, organic scintillators have low density which limits their applications in gamma spectroscopy. Due to high quantum yield and size dependent emission, nanoparticles have attracted interested in various field of research. Here, we have studies the nanoparticles for radiation detection. We have synthesized nanoparticles of Cerium fluoride (CeF3), Zinc Oxide (ZnO), Cadmium Telluride (CdTe), Copper complex and Zinc sulfide (ZnS). We have used Fluorescence Resonance Energy Transfer (FRET) principle to enhance the luminescence properties of nanocomposite scintillator. Nanocomposites scintillators are structurally characterized with X-ray diffraction (XRD) and Transmission Electron Microscopy (TEM). Optical properties are studied using Photoluminescence, UV-Visible and X-ray. Enhancements in the luminescence are observed under UV and X-ray excitation. Preliminary studies shows nanocomposite scintillators are promising for radiation detection. Scintillators are the materials that emit light upon irradiation with high energy radiation like X-ray or gamma-ray. Inorganic single crystal and organic (plastic and liquid) are the two most used scintillator types. Both of these scintillator kinds have advantages and disadvantages. Inorganic single crystals are expensive and difficult to grow in desire shape and size. Also, single crystal scintillator such as NaI and CsI are very hygroscopic. On the other hand, organic scintillators have low density which limits their applications in gamma spectroscopy. Due to high quantum

  3. Fluorescence resonance energy transfer-based stoichiometry in living cells.

    PubMed Central

    Hoppe, Adam; Christensen, Kenneth; Swanson, Joel A

    2002-01-01

    Imaging of fluorescence resonance energy transfer (FRET) between fluorescently labeled molecules can measure the timing and location of intermolecular interactions inside living cells. Present microscopic methods measure FRET in arbitrary units, and cannot discriminate FRET efficiency and the fractions of donor and acceptor in complex. Here we describe a stoichiometric method that uses three microscopic fluorescence images to measure FRET efficiency, the relative concentrations of donor and acceptor, and the fractions of donor and acceptor in complex in living cells. FRET stoichiometry derives from the concept that specific donor-acceptor complexes will give rise to a characteristic FRET efficiency, which, if measured, can allow stoichiometric discrimination of interacting components. A first equation determines FRET efficiency and the fraction of acceptor molecules in complex with donor. A second equation determines the fraction of donor molecules in complex by estimating the donor fluorescence lost due to energy transfer. This eliminates the need for acceptor photobleaching to determine total donor concentrations and allows for repeated measurements from the same cell. A third equation obtains the ratio of total acceptor to total donor molecules. The theory and method were confirmed by microscopic measurements of fluorescence from cyan fluorescent protein (CFP), citrine, and linked CFP-Citrine fusion protein, in solutions and inside cells. Together, the methods derived from these equations allow sensitive, rapid, and repeatable detection of donor-, acceptor-, and donor-acceptor complex stoichiometry at each pixel in an image. By accurately imaging molecular interactions, FRET stoichiometry opens new areas for quantitative study of intracellular molecular networks. PMID:12496132

  4. Chemiluminescence resonance energy transfer-based detection for microchip electrophoresis.

    PubMed

    Zhao, Shulin; Huang, Yong; Shi, Ming; Liu, Rongjun; Liu, Yi-Ming

    2010-03-01

    Since the channels in micro- and nanofluidic devices are extremely small, a sensitive detection is required following microchip electrophoresis (MCE). This work describes a highly sensitive and yet universal detection scheme based on chemiluminescence resonance energy transfer (CRET) for MCE. It was found that an efficient CRET occurred between a luminol donor and a CdTe quantum dot (QD) acceptor in the luminol-NaBrO-QD system and that it was sensitively suppressed by the presence of certain organic compounds of biological interest including biogenic amines and thiols, amino acids, organic acids, and steroids. These findings allowed developing sensitive MCE-CL assays for the tested compounds. The proposed MCE-CL methods showed desired analytical figures of merit such as a wide concentration range of linear response. Detection limits obtained were approximately 10(-9) M for biogenic amines including dopamine and epinephrine and approximately 10(-8) M for biogenic thiols (e.g., glutathione and acetylcysteine), organic acids (i.e., ascorbic acid and uric acid), estrogens, and native amino acids. These were 10-1000 times more sensitive than those of previously reported MCE-based methods with chemiluminescence, electrochemical, or laser-induced fluorescence detection for quantifying corresponding compounds. To evaluate the applicability of the present MCE-CL method for analyzing real biological samples, it was used to determine amino acids in individual human red blood cells. Nine amino acids, including Lys, Ser, Ala, Glu, Trp, etc., were detected. The contents ranged from 3 to 31 amol/cell. The assay proved to be simple, quick, reproducible, and very sensitive. PMID:20121202

  5. Novel fluorescence resonance energy transfer-based reporter reveals differential calcineurin activation in neonatal and adult cardiomyocytes.

    PubMed

    Bazzazi, Hojjat; Sang, Lingjie; Dick, Ivy E; Joshi-Mukherjee, Rosy; Yang, Wanjun; Yue, David T

    2015-09-01

    Novel fluorescence resonance energy transfer-based genetically encoded reporters of calcineurin are constructed by fusing the two subunits of calcineurin with P2A-based linkers retaining the expected native conformation of calcineurin. Calcineurin reporters display robust responses to calcium transients in HEK293 cells. The sensor responses are correlated with NFATc1 translocation dynamics in HEK293 cells. The sensors are uniformly distributed in neonatal myocytes and respond efficiently to single electrically evoked calcium transients and show cumulative activation at frequencies of 0.5 and 1 Hz. In adult myocytes, the calcineurin sensors appear to be localized to the cardiac z-lines, and respond to cumulative calcium transients at frequencies of 0.5 and 1 Hz. The phosphatase calcineurin is a central component of many calcium signalling pathways, relaying calcium signals from the plasma membrane to the nucleus. It has critical functions in a multitude of systems, including immune, cardiac and neuronal. Given the widespread importance of calcineurin in both normal and pathological conditions, new tools that elucidate the spatiotemporal dynamics of calcineurin activity would be invaluable. Here we develop two separate genetically encoded fluorescence resonance energy transfer (FRET)-based sensors of calcineurin activation, DuoCaN and UniCaN. Both sensors showcase a large dynamic range and rapid response kinetics, differing primarily in the linker structure between the FRET pairs. Both sensors were calibrated in HEK293 cells and their responses correlated well with NFAT translocation to the nucleus, validating the biological relevance of the sensor readout. The sensors were subsequently expressed in neonatal rat ventricular myocytes and acutely isolated adult guinea pig ventricular myocytes. Both sensors demonstrated robust responses in myocytes and revealed kinetic differences in calcineurin activation during changes in pacing rate for neonatal versus adult myocytes

  6. Upconversion luminescence resonance energy transfer-based aptasensor for the sensitive detection of oxytetracycline.

    PubMed

    Zhang, Hui; Fang, Congcong; Wu, Shijia; Duan, Nuo; Wang, Zhouping

    2015-11-15

    In this work, a biosensor based on luminescence resonance energy transfer (LRET) from NaYF4:Yb,Tm upconversion nanoparticles (UCNPs) to SYBR Green I has been developed. The aptamers are covalently linked to UCNPs and hybridized with their complementary strands. The subsequent addition of SYBR Green allows SYBR Green I to insert into the formed double-stranded DNA (dsDNA) duplex and brings the energy donor and acceptor into close proximity, leading to the fluorescence of UCNPs transferred to SYBR Green I. When excited at 980 nm, the UCNPs emit luminescence at 477 nm, and this energy is transferred to SYBR Green I, which emits luminescence at 530 nm. In the presence of oxytetracycline (OTC), the aptamers prefer to bind to its corresponding analyte and dehybridize with the complementary DNA. This dehybridization leads to the liberation of SYBR Green I, which distances SYBR Green I from the UCNPs and recovers the UCNPs' luminescence. Under optimal conditions, a linear calibration is obtained between the ratio of I530 to I477 nm (I530/I477) and the OTC concentration, which ranges from 0.1 to 10 ng/ml with a limit of detection (LOD) of 0.054 ng/ml. PMID:26302361

  7. Fluorescence resonance energy transfer-based molecular logic circuit using a DNA scaffold

    NASA Astrophysics Data System (ADS)

    Nishimura, Takahiro; Ogura, Yusuke; Tanida, Jun

    2012-12-01

    This paper presents a method of information processing using biomolecular input signals and fluorescence resonance energy transfer (FRET) signaling constructed on a DNA scaffold. Logic operations are achieved by encoding molecular inputs into an arrangement of fluorescence dyes using simple DNA reactions and by evaluating a logic expression using local photonic signaling that is much faster than DNA reactions. Experimental results verify the operation of a complete set of Boolean logic functions (AND, OR, NOT) and combinational logic operations using a FRET-signal cascade.

  8. Revealing Nucleic Acid Mutations Using Förster Resonance Energy Transfer-Based Probes.

    PubMed

    Junager, Nina P L; Kongsted, Jacob; Astakhova, Kira

    2016-01-01

    Nucleic acid mutations are of tremendous importance in modern clinical work, biotechnology and in fundamental studies of nucleic acids. Therefore, rapid, cost-effective and reliable detection of mutations is an object of extensive research. Today, Förster resonance energy transfer (FRET) probes are among the most often used tools for the detection of nucleic acids and in particular, for the detection of mutations. However, multiple parameters must be taken into account in order to create efficient FRET probes that are sensitive to nucleic acid mutations. In this review; we focus on the design principles for such probes and available computational methods that allow for their rational design. Applications of advanced, rationally designed FRET probes range from new insights into cellular heterogeneity to gaining new knowledge of nucleic acid structures directly in living cells. PMID:27472344

  9. Detection of Citrus tristeza virus by using fluorescence resonance energy transfer-based biosensor.

    PubMed

    Shojaei, Taha Roodbar; Salleh, Mohamad Amran Mohd; Sijam, Kamaruzaman; Rahim, Raha Abdul; Mohsenifar, Afshin; Safarnejad, Reza; Tabatabaei, Meisam

    2016-12-01

    Due to the low titer or uneven distribution of Citrus tristeza virus (CTV) in field samples, detection of CTV by using conventional detection techniques may be difficult. Therefore, in the present work, the cadmium-telluride quantum dots (QDs) was conjugated with a specific antibody against coat protein (CP) of CTV, and the CP were immobilized on the surface of gold nanoparticles (AuNPs) to develop a specific and sensitive fluorescence resonance energy transfer (FRET)-based nanobiosensor for detecting CTV. The maximum FRET efficiency for the developed nano-biosensor was observed at 60% in AuNPs-CP/QDs-Ab ratio of 1:8.5. The designed system showed higher sensitivity and specificity over enzyme linked immunosorbent assay (ELISA) with a limit of detection of 0.13μgmL(-1) and 93% and 94% sensitivity and specificity, respectively. As designed sensor is rapid, sensitive, specific and efficient in detecting CTV, this could be envisioned for diagnostic applications, surveillance and plant certification program. PMID:27380305

  10. A fluorescence energy transfer-based mechanical stress sensor for specific proteins in situ.

    PubMed

    Meng, Fanjie; Suchyna, Thomas M; Sachs, Frederick

    2008-06-01

    To measure mechanical stress in real time, we designed a fluorescence resonance energy transfer (FRET) cassette, denoted stFRET, which could be inserted into structural protein hosts. The probe was composed of a green fluorescence protein pair, Cerulean and Venus, linked with a stable alpha-helix. We measured the FRET efficiency of the free cassette protein as a function of the length of the linker, the angles of the fluorophores, temperature and urea denaturation, and protease treatment. The linking helix was stable to 80 degrees C, unfolded in 8 m urea, and rapidly digested by proteases, but in all cases the fluorophores were unaffected. We modified the alpha-helix linker by adding and subtracting residues to vary the angles and distance between the donor and acceptor, and assuming that the cassette was a rigid body, we calculated its geometry. We tested the strain sensitivity of stFRET by linking both ends to a rubber sheet subjected to equibiaxial stretch. FRET decreased proportionally to the substrate strain. The naked cassette expressed well in human embryonic kidney-293 cells and, surprisingly, was concentrated in the nucleus. However, when the cassette was located into host proteins such alpha-actinin, nonerythrocyte spectrin and filamin A, the labeled hosts expressed well and distributed normally in cell lines such as 3T3, where they were stressed at the leading edge of migrating cells and relaxed at the trailing edge. When collagen-19 was labeled near its middle with stFRET, it expressed well in Caenorhabditis elegans, distributing similarly to hosts labeled with a terminal green fluorescent protein, and the worms behaved normally. PMID:18479457

  11. Upconversion fluorescence resonance energy transfer based biosensor for ultrasensitive detection of matrix metalloproteinase-2 in blood.

    PubMed

    Wang, Yuhui; Shen, Pei; Li, Chunya; Wang, Yanying; Liu, Zhihong

    2012-02-01

    Matrix metalloproteinase-2 (MMP-2) is a very important biomarker in blood. Presently, sensitive and selective determination of MMP-2 directly in blood samples is still a challenging job because of the high complexity of the sample matrix. In this work, we reported a new homogeneous biosensor for MMP-2 based on fluorescence resonance energy transfer (FRET) from upconversion phosphors (UCPs) to carbon nanoparticles (CNPs). A polypeptide chain (NH(2)-GHHYYGPLGVRGC-COOH) comprising both the specific MMP-2 substrate domain (PLGVR) and a π-rich motif (HHYY) was designed and linked to the surface of UCPs at the C terminus. The FRET process was initiated by the π-π interaction between the peptide and CNPs, which thus quenched the fluorescence of the donor. Upon the cleavage of the substrate by the protease at the amide bond between Gly and Val, the donor was separated from the acceptor while the π-rich motif stayed on the acceptor. As a result, the fluorescence of the donor was restored. The fluorescence recovery was found to be proportional to the concentration of MMP-2 within the range from 10-500 pg/mL in an aqueous solution. The quantification limit of this sensor was at least 1 order of magnitude lower than that of other reported assays for MMP-2. The sensor was used to determine the MMP-2 level directly in human plasma and whole blood samples with satisfactory results obtained. Owing to the hypersensitivity of the method, clinical samples of only less than 1 μL were needed for accurate quantification, which can be meaningful in MMP-2-related clinical and bioanalytical applications. PMID:22242647

  12. Assessing Gonadotropin Receptor Function by Resonance Energy Transfer-Based Assays.

    PubMed

    Ayoub, Mohammed Akli; Landomiel, Flavie; Gallay, Nathalie; Jégot, Gwenhael; Poupon, Anne; Crépieux, Pascale; Reiter, Eric

    2015-01-01

    Gonadotropin receptors belong to the super family of G protein-coupled receptors and mediate the physiological effects of follicle-stimulating hormone (FSHR) and luteinizing hormone (LHR). Their central role in the control of reproductive function has made them the focus of intensive studies. Upon binding to their cognate hormone, they trigger complex signaling and trafficking mechanisms that are tightly regulated in concentration, time, and space. Classical cellular assays often fail to capture all these dynamics. Here, we describe the use of various bioluminescence and fluorescence resonance energy transfer (BRET and FRET) assays to investigate the activation and regulation of FSHR and LHR in real-time, in living cells (i.e., transiently expressed in human embryonic kidney 293 cells). Indeed, the dynamics of hormone-mediated heterotrimeric G protein activation, cyclic adenosine-monophosphate (cAMP) production, calcium release, β-arrestin 2 recruitment, and receptor internalization/recycling was assessed. Kinetics and dose-response analyses confirmed the expected pharmacological and signaling properties of hFSHR and hLHR but revealed interesting characteristics when considering the two major pathways (cAMP and β-arrestin 2) of the two receptors assessed by BRET. Indeed, the EC50 values were in picomolar range for cAMP production while nanomolar range was observed for β-arrestin 2 recruitment as well as receptor internalization. Interestingly, the predicted receptor occupancy indicates that the maximal G protein activation and cAMP response occur at <10% of receptor occupancy whereas >90% of activated receptors is required to achieve full β-arrestin 2 recruitment and subsequent receptor internalization. The rapid receptor internalization was also followed by a recycling phase. Collectively, our data reveal that β-arrestin-mediated desensitization, internalization, and the subsequent fast recycling of receptors at the plasma membrane may provide a mechanistic

  13. Assessing Gonadotropin Receptor Function by Resonance Energy Transfer-Based Assays

    PubMed Central

    Ayoub, Mohammed Akli; Landomiel, Flavie; Gallay, Nathalie; Jégot, Gwenhael; Poupon, Anne; Crépieux, Pascale; Reiter, Eric

    2015-01-01

    Gonadotropin receptors belong to the super family of G protein-coupled receptors and mediate the physiological effects of follicle-stimulating hormone (FSHR) and luteinizing hormone (LHR). Their central role in the control of reproductive function has made them the focus of intensive studies. Upon binding to their cognate hormone, they trigger complex signaling and trafficking mechanisms that are tightly regulated in concentration, time, and space. Classical cellular assays often fail to capture all these dynamics. Here, we describe the use of various bioluminescence and fluorescence resonance energy transfer (BRET and FRET) assays to investigate the activation and regulation of FSHR and LHR in real-time, in living cells (i.e., transiently expressed in human embryonic kidney 293 cells). Indeed, the dynamics of hormone-mediated heterotrimeric G protein activation, cyclic adenosine-monophosphate (cAMP) production, calcium release, β-arrestin 2 recruitment, and receptor internalization/recycling was assessed. Kinetics and dose–response analyses confirmed the expected pharmacological and signaling properties of hFSHR and hLHR but revealed interesting characteristics when considering the two major pathways (cAMP and β-arrestin 2) of the two receptors assessed by BRET. Indeed, the EC50 values were in picomolar range for cAMP production while nanomolar range was observed for β-arrestin 2 recruitment as well as receptor internalization. Interestingly, the predicted receptor occupancy indicates that the maximal G protein activation and cAMP response occur at <10% of receptor occupancy whereas >90% of activated receptors is required to achieve full β-arrestin 2 recruitment and subsequent receptor internalization. The rapid receptor internalization was also followed by a recycling phase. Collectively, our data reveal that β-arrestin-mediated desensitization, internalization, and the subsequent fast recycling of receptors at the plasma membrane may provide a mechanistic

  14. A novel alignment-free method for detection of lateral genetic transfer based on TF-IDF

    PubMed Central

    Cong, Yingnan; Chan, Yao-ban; Ragan, Mark A.

    2016-01-01

    Lateral genetic transfer (LGT) plays an important role in the evolution of microbes. Existing computational methods for detecting genomic regions of putative lateral origin scale poorly to large data. Here, we propose a novel method based on TF-IDF (Term Frequency-Inverse Document Frequency) statistics to detect not only regions of lateral origin, but also their origin and direction of transfer, in sets of hierarchically structured nucleotide or protein sequences. This approach is based on the frequency distributions of k-mers in the sequences. If a set of contiguous k-mers appears sufficiently more frequently in another phyletic group than in its own, we infer that they have been transferred from the first group to the second. We performed rigorous tests of TF-IDF using simulated and empirical datasets. With the simulated data, we tested our method under different parameter settings for sequence length, substitution rate between and within groups and post-LGT, deletion rate, length of transferred region and k size, and found that we can detect LGT events with high precision and recall. Our method performs better than an established method, ALFY, which has high recall but low precision. Our method is efficient, with runtime increasing approximately linearly with sequence length. PMID:27453035

  15. Energy transfer based emission analysis of (Tb³⁺, Sm³⁺): lithium zinc phosphate glasses.

    PubMed

    Reddy, C Parthasaradhi; Naresh, V; Ramaraghavulu, R; Rudramadevi, B H; Reddy, K T Ramakrishna; Buddhudu, S

    2015-06-01

    The present paper reports on the results pertaining to photoluminescence properties of Tb(3+), Sm(3+) and energy transfer from Tb(3+) to Sm(3+) ions in lithium zinc phosphate (LZP) glass matrix prepared by melt quenching method. Besides photoluminescence studies thermal stability for the LZP glass is also evaluated from TG-DTA measurement. Tb(3+) doped glasses have exhibited a prominent green emission at 547 nm assigned to (5)D4→(7)F5 transitions on exciting at λ(exci)=377 nm. The quenching phenomenon in Tb(3+) emission on varying its concentration has been discussed from cross-relaxations. Sm(3+) incorporated glasses have shown strong orange emission at 603 nm assigned to (4)G5/2→(6)H7/2 transition upon exciting with λ(exci)=404 nm. The possibility of energy transfer process taking place between these two ions is understood from the significant spectral overlap of Sm(3+) absorption and Tb(3+) emission. Migration of excitation energy from Tb(3+) ions to Sm(3+) ions at λ(exci)=375 nm is evaluated from the emission spectra of (0.5 mol.% Tb(3+)+(0.5-2.0 mol.%) Sm(3+)) co-doped glasses. The emission intensity of Sm(3+) has enhanced while Tb(3+) emission intensity decreased with an increase in Sm(3+) concentration suggesting the occurrence of energy transfer through cross-relaxations from Tb(3+) ((5)D4) to Sm(3+) ((4)G5/2). The mechanism behind energy transfer process has been further explained from energy level diagram, decay profiles and confirmed by calculating energy transfer parameters (energy transfer efficiency (η) and energy transfer probability (P)) of co-doped glasses. The dipole-dipole interaction is found to be more responsible for energy transfer Tb(3+) ((5)D4) to Sm(3+) ((4)G5/2) ions in LZP glass matrix. PMID:25756686

  16. Engineering interfacial photo-induced charge transfer based on nanobamboo array architecture for efficient solar-to-chemical energy conversion.

    PubMed

    Wang, Xiaotian; Liow, Chihao; Bisht, Ankit; Liu, Xinfeng; Sum, Tze Chien; Chen, Xiaodong; Li, Shuzhou

    2015-04-01

    Engineering interfacial photo-induced charge transfer for highly synergistic photocatalysis is successfully realized based on nanobamboo array architecture. Programmable assemblies of various components and heterogeneous interfaces, and, in turn, engineering of the energy band structure along the charge transport pathways, play a critical role in generating excellent synergistic effects of multiple components for promoting photocatalytic efficiency. PMID:25704499

  17. Synthesis of a fluorescence resonance energy transfer-based probe containing a tricyclic nucleoside analog for single nucleotide polymorphism typing.

    PubMed

    Hayai, Aya; Maeda, Yusuke; Ueno, Yoshihito

    2016-08-01

    Here, we report the synthesis of a fluorescence resonance energy transfer (FRET)-based probe for single nucleotide polymorphism (SNP) typing. The probe contains a fluorescent tricyclic base, 8-amino-3-(2,3-dihydroxypropyl)imidazo[4',5':5,6]pyrido[2,3-d]pyrimidine, as a donor molecule and 7-diethylaminocoumarin-3-carboxylic acid as an acceptor molecule. FRET was observed between the donor and acceptor molecules on the probe. The identity of the target bases on DNA and RNA strands could be determined using the probe. PMID:27329795

  18. Resonance energy transfer based on shallow and deep energy levels of biotin-polyethylene glycol/polyamine stabilized CdS quantum dots

    NASA Astrophysics Data System (ADS)

    Lü, W.; Tokuhiro, Y.; Umezu, I.; Sugimura, A.; Nagasaki, Y.

    2006-10-01

    Fluorescent resonance energy transfer between the poly(ethylene glycol)-b-poly(2-(N ,N-dimethylamino)ethyl methacrylate) stabilized CdS quantum dots (QDs) and texas-red streptavidin was observed. We propose a four-state model to explain photoluminescence (PL) process of CdS QDs and suggest that there are two emission processes originated from shallow and deep trap energy levels corresponding to fast and slow components of PL decay, respectively. Energy transfer mechanism was discussed based on Dexter theory [J. Chem. Phys. 21, 863 (1953)] and the proposed four-state model. It is found that the energy transfer efficiency of deep energy level is higher than that of shallow energy level. The calculated distance between QD and texas red with the parameters of shallow energy level is the same with that of deep level, which indicates that the proposed model is reasonable for explaining the PL dynamics of CdS QDs.

  19. Energy transfer based photoluminescence properties of co-doped (Er3+ + Pr3+): PEO + PVP blended polymer composites for photonic applications

    NASA Astrophysics Data System (ADS)

    Naveen Kumar, K.; Kang, Misook; Bhaskar Kumar, G.; Ratnakaram, Y. C.

    2016-04-01

    Er3+, Pr3+ singly doped and co-doped PEO + PVP polymer composites have been synthesized by conventional solution casting method. The structural analysis has been carried out for all these polymer composites from XRD analysis. Raman spectral studies confirm the ion-polymer interactions and polymer complex formation. Thermal properties of pure polymer film has also been clearly elucidated by TG/DTA profiles. Well defined optical absorption bands pertaining to Er3+ and Pr3+ are observed in the absorption spectral profile and these bands are assigned with corresponding electronic transitions. The polymer films containing singly doped Er3+ and Pr3+ ions have displayed green and red emissions at 510 nm (2H11/2 → 4I15/2) and 688 nm (3P0 → 3F3) respectively under UV excitation source. Comparing the emission spectra of singly Er3+ and co-doped Er3+ + Pr3+: PEO + PVP polymer films, a significant red emission pertaining to Pr3+ions is remarkably enhanced in co-doped polymer system. This could be ascribed to possible energy transfer from Er3+ to Pr3+ in co-doped polymer system. The energy transfer mechanism is clearly demonstrated using their emission performances, overlapped spectral profiles and also life time decay dynamics. Thus, it could be suggested that Er3+: PEO + PVP, Pr3+: PEO + PVP and (Er3+ + Pr3+): PEO + PVP blended polymer films are potential materials for several photonic applications.

  20. Through-bond energy transfer-based ratiometric two-photon probe for fluorescent imaging of Pd(2+) ions in living cells and tissues.

    PubMed

    Zhou, Liyi; Wang, Qianqian; Zhang, Xiao-Bing; Tan, Weihong

    2015-04-21

    Palladium can cause severe skin and eye irritation once it enters the human body. Ratiometric two-photon fluorescent probes can both eliminate interference from environmental factors and realize deep-tissue imaging with improved spatial localization. To quantitatively track Pd(2+) in biosystems, we report here a colorimetric and two-photon ratiometric fluorescent probe, termed Np-Rh-Pd, which consists of a two-photon fluorophore (naphthalene derivative with a D-π-A structure) and a rhodamine B dye. The two fluorophores are directly linked to form a two-photon ratiometric fluorescent probe for Pd(2+) based on a through-bond energy transfer (TBET) strategy. It exhibits highly efficient energy transfer (90%) with two well-resolved emission peaks (wavelength difference of 100 nm), which could efficiently diminish the cross talk between channels and is especially favorable for ratiometric bioimaging applications. A signal-to-background ratio of 31.2 was observed for the probe, which affords a high sensitivity for Pd(2+) with a detection limit of 2.3 × 10(-7) M. It was also found that acidity does not affect the fluorescent response of the probe to Pd(2+), which is favorable for its applications in practical samples. The probe was further used for fluorescence imaging of Pd(2+) ions in live cells and tissue slices under two-photon excitation, which showed significant tissue-imaging depths (90-270 μm) and a high resolution for ratiometric imaging. PMID:25809980

  1. Noninvasive Evaluation of Heavy Metal Uptake and Storage in Micoralgae Using a Fluorescence Resonance Energy Transfer-Based Heavy Metal Biosensor1[C][W][OPEN

    PubMed Central

    Rajamani, Sathish; Torres, Moacir; Falcao, Vanessa; Ewalt Gray, Jaime; Coury, Daniel A.; Colepicolo, Pio; Sayre, Richard

    2014-01-01

    We have developed a fluorescence resonance energy transfer (FRET)-based heavy metal biosensor for the quantification of bioavailable free heavy metals in the cytoplasm of the microalga Chlamydomonas reinhardtii. The biosensor is composed of an end-to-end fusion of cyan fluorescent protein (CFP), chicken metallothionein II (MT-II), and yellow fluorescent protein (YFP). In vitro measurements of YFP/CFP fluorescence emission ratios indicated that the addition of metals to the purified biosensor enhanced FRET between CFP and YFP, consistent with heavy metal-induced folding of MT-II. A maximum YFP/CFP FRET ratio of 2.8 was observed in the presence of saturating concentrations of heavy metals. The sensitivity of the biosensor was greatest for Hg2+ followed by Cd2+ ≈ Pb2+ > Zn2+ > Cu2+. The heavy metal biosensor was unresponsive to metals that do not bind to MT-II (Na+ and Mg2+). When expressed in C. reinhardtii, we observed a differential metal-dependent response to saturating external concentrations (1.6 mm) of heavy metals (Pb2+ > Cd2+) that was unlike that observed for the isolated biosensor (in vitro). Significantly, analysis of metal uptake kinetics indicated that equilibration of the cytoplasm with externally applied heavy metals occurred within seconds. Our results also indicated that algae have substantial buffering capacity for free heavy metals in their cytosol, even at high external metal concentrations. PMID:24368336

  2. Influence of Donor on the Sensing Performance of a Series of Through-Bond Energy Transfer-Based Two-photon Fluorescent Cu(2+) Probes.

    PubMed

    Zhang, Yu-Jin; Wang, Xin; Zhou, Yong; Wang, Chuan-Kui

    2016-07-01

    Optical properties of a series of molecular two-photon fluorescent Cu(2+) probes containing the same acceptor (rhodamine group) are analyzed using time-dependent density functional theory in combination with analytical response theory. Special emphasis is placed on evolution of the probes' optical properties in the presence of Cu(2+) . In this study, the compound with naphthalene as the donor is shown to be excellent ratiometric fluorescent chemosensor, whereas the compound with quinoline derivative as the donor shows off/on-typed colorimetric fluorescent response. For the compound with naphthalimide derivative as the donor, changing the connection between the donor and acceptor can efficiently prevent the fluorescent quenching of the probe both in the absence and presence of Cu(2+) . The donor moiety and the connection between donor and acceptor are thus found to play dominant roles on sensing performance of these probes. Moreover, distributions of molecular orbitals involved in the excitation and emission of the probes are analyzed to explore responsive mechanism of the probes. The through-bond energy transfer process is theoretically demonstrated. Our results are used to elucidate the available experimental measurements. This work is helpful to understand the relationships of structure with optical properties for the studied probes. PMID:27144496

  3. Detection of enzyme activity in orthotopic murine breast cancer by fluorescence lifetime imaging using a fluorescence resonance energy transfer-based molecular probe

    NASA Astrophysics Data System (ADS)

    Solomon, Metasebya; Guo, Kevin; Sudlow, Gail P.; Berezin, Mikhail Y.; Edwards, W. Barry; Achilefu, Samuel; Akers, Walter J.

    2011-06-01

    Cancer-related enzyme activity can be detected noninvasively using activatable fluorescent molecular probes. In contrast to ``always-on'' fluorescent molecular probes, activatable probes are relatively nonfluorescent at the time of administration due to intramolecular fluorescence resonance energy transfer (FRET). Enzyme-mediated hydrolysis of peptide linkers results in reduced FRET and increase of fluorescence yield. Separation of signal from active and inactive probe can be difficult with conventional intensity-based fluorescence imaging. Fluorescence lifetime (FLT) measurement is an alternative method to detect changes in FRET. Thus, we investigate FLT imaging for in vivo detection of FRET-based molecular probe activation in an orthotopic breast cancer model. Indeed, the measured FLT of the enzyme-activatable molecular probe increases from 0.62 ns just after injection to 0.78 ns in tumor tissue after 4 h. A significant increase in FLT is not observed for an always-on targeted molecular probe with the same fluorescent reporter. These results show that FLT contrast is a powerful addition to preclinical imaging because it can report molecular activity in vivo due to changes in FRET. Fluorescence lifetime imaging exploits unique characteristics of fluorescent molecular probes that can be further translated into clinical applications, including noninvasive detection of cancer-related enzyme activity.

  4. Continuous Monitoring of Specific mRNA Expression Responses with a Fluorescence Resonance Energy Transfer-Based DNA Nano-tweezer Technique That Does Not Require Gene Recombination.

    PubMed

    Shigeto, Hajime; Nakatsuka, Keisuke; Ikeda, Takeshi; Hirota, Ryuichi; Kuroda, Akio; Funabashi, Hisakage

    2016-08-16

    This letter discusses the feasibility of continuously monitoring specific mRNA expression responses in a living cell with a probe structured as a fluorescence resonance energy transfer (FRET)-based DNA nano-tweezer (DNA-NT). The FRET-based DNA-NT, self-assembled from three single-stranded DNAs, alters its structure from an open state to a closed state in recognition of a target mRNA, resulting in the closing of the distal relation of previously modified FRET-paired fluorescent dyes and generating a FRET signal. The expressions of glucose transporters (GLUT) 1 and 4 in a mouse hepato-carcinoma (Hepa 1-6 cells) were selected as the target model. Live-cell imaging analysis of Hepa 1-6 cells with both FRET-based DNA-NTs indicated that the behaviors of the FRET signals integrated in each individual cell were similar to those measured with the conventional mass analysis technique of semiquantitative real-time (RT) polymerase chain reaction (PCR). From these results, it is concluded that continuous monitoring of gene expression response without gene recombination is feasible with a FRET-based DNA-NT, even in a single cell manner. PMID:27458920

  5. Fluorescence resonance energy transfer based immunosensing of human IgG by using quantum dot/GIgG-gold nanoparticles/IgG conjugation.

    PubMed

    Luo, Lin; Liu, Zhao; Li, Jianjun; Zhu, Jian

    2014-06-01

    A novel immunosensor of human immune globulin (IgG) was fabricated based on the fluorescence transfer between luminescent semiconductor quantum dots (QDs) and gold nanoparticles (AuNPs). AuNPs and CdSe/ZnS QDs were respectively labeled with immune reaction pair:IgG and goat anti-human immunoglobulin (GIgG), by optimizing the conditions including pH value and protein amount. In the assembled QD-GIgG-IgG-AuNP fluorescence resonance energy transfer (FRET) immunocomplex system, the presence of AuNP-IgG directly reduced the fluorescence intensity of the GIgG conjugated QDs. As a result, the concentration of AuNP-IgG had a linear relationship with the fluorescence decrease in a range of 0-1.57 microg/mL. Furthermore, the mechanism of the QDs' fluorescence decay has also been discussed and attributed to the light-induced photobleaching. This novel sensing method achieves quantitative detection of trace proteins, suggesting the potential of biomolecule-AuNPs conjugation based analytical methods in further application. PMID:24738348

  6. Selective ligand activity at Nur/retinoid X receptor complexes revealed by dimer-specific bioluminescence resonance energy transfer-based sensors.

    PubMed

    Giner, Xavier C; Cotnoir-White, David; Mader, Sylvie; Lévesque, Daniel

    2015-10-01

    Retinoid X receptors (RXRs) play a role as master regulators because of their capacity to form heterodimers with other nuclear receptors (NRs). Accordingly, retinoid signaling is involved in multiple biologic processes, including development, cell differentiation, metabolism, and cell death. However, the role and function of RXRs in different heterodimer complexes remain unidentified, mainly because most RXR drugs (called rexinoids) are not selective of specific heterodimer complexes. The lack of selectivity strongly limits the use of rexinoids for specific therapeutic approaches. To better characterize rexinoids at specific NR complexes, we have developed and optimized luciferase (Luc) protein complementation(PCA)-based bioluminescence resonance energy transfer (BRET) assays that can directly measure recruitment of a coactivator (CoA) motif fused to yellow fluorescent protein (YFP) by specific NR dimers. To validate the assays, we compared rexinoid modulation of CoA recruitment by the RXR homodimer and by the heterodimers Nur77/RXR and Nurr1/RXR. Results revealed that some rexinoids display selective CoA recruitment activities with homo- or heterodimer complexes. In particular, SR11237 (BMS649) has stronger potency for recruitment of CoA motif and transcriptional activity with the heterodimer Nur77/RXR than other complexes. This technology should be useful in identifying new compounds with specificity for individual dimeric species formed by NRs. PMID:26148973

  7. Ag nanoclusters could efficiently quench the photoresponse of CdS quantum dots for novel energy transfer-based photoelectrochemical bioanalysis.

    PubMed

    Zhang, Ling; Sun, Yue; Liang, Yan-Yu; He, Jian-Ping; Zhao, Wei-Wei; Xu, Jing-Juan; Chen, Hong-Yuan

    2016-11-15

    Herein the influence of ultrasmall Ag nanoclusters (Ag NCs) against CdS quantum dots (QDs) in a photoelectrochemical (PEC) nanosystem was exploited for the first time, based on which a novel PEC bioanalysis was successfully developed via the efficient quenching effect of Ag NCs against the CdS QDs. In a model system, DNA assay was achieved by using molecular beacon (MB) probes anchored on a CdS QDs modified electrode, and the MB probes contain two segments that can hybridize with both target DNA sequence and the label of DNA encapsulated Ag NCs. After the MB probe was unfolded by the target DNA sequence, the labels of oligonucleotide encapsulated Ag NCs would be brought in close proximity to the CdS QDs electrode surface, and efficient photocurrent quenching of QDs could be resulted from an energy transfer process that originated from NCs. Thus, by monitoring the attenuation in the photocurrent signal, an elegant and sensitive PEC DNA bioanalysis could be accomplished. The developed biosensor displayed a linear range from 1.0pM to 10nM and the detection limit was experimentally found to be of 0.3pM. This work presents a feasible signaling principle that could act as a common basis for general PEC bioanalysis development. PMID:27315518

  8. Fluorescence resonance energy transfer-based ratiometric fluorescent probe for detection of Zn(2+) using a dual-emission silica-coated quantum dots mixture.

    PubMed

    Wu, Liang; Guo, Qing-Sheng; Liu, Yu-Qian; Sun, Qing-Jiang

    2015-05-19

    In this work, we report the design and application of a new ratiometric fluorescent probe, which contains different-colored quantum dots (QDs) as dual fluorophores, ultrathin silica shell as spacer, and meso-tetra(4-sulfonatophenyl)porphine dihydrochloride (TSPP) as receptor, for Zn(2+) detection in aqueous solution and living cells. In the architecture of our designed probe, the silica shell plays the key roles in controlling the locations of QDs, TSPP, and Zn(2+), preventing the direct contact between QDs and Zn(2+) but affording fluorescence resonance energy transfer (FRET) from dual-color QDs to TSPP. In the presence of Zn(2+), the analyte-receptor reaction changes the absorption in the range of the Q-band of TSPP and accordingly the efficiencies of two independent FRET processes from the dual-colored QDs to the acceptor, respectively, leading to fluorescence enhancement of green-emission QDs whereas fluorescence quenching of yellow-emission QDs. Benefiting from the well-resolved dual emissions from different-colored QDs and the large range of emission ratios, the probe solution displays continuous color changes from yellow to green, which can be clearly observed by the naked eye. Under physiological conditions, the probe exhibits a stable response for Zn(2+) from 0.3 to 6 μM, with a detection limit of 60 nM in aqueous solutions. With respect to single-emission probes, this ratiometric probe has demonstrated to feature excellent selectivity for Zn(2+) over other physiologically important cations such as Fe(3+) and Cu(2+). It has been preliminarily used for ratiometric imaging of Zn(2+) in living cells with satisfying resolution. PMID:25932651

  9. Förster Resonance Energy Transfer-Based Self-Assembled Nanoprobe for Rapid and Sensitive Detection of Postoperative Pancreatic Fistula.

    PubMed

    Hamano, Nobuhito; Murata, Masaharu; Kawano, Takahito; Piao, Jing Shu; Narahara, Sayoko; Nakata, Ryosuke; Akahoshi, Tomohiko; Ikeda, Tetsuo; Hashizume, Makoto

    2016-03-01

    Postoperative pancreatic fistula (POPF) is the most serious and challenging complication following gastroenterological surgery. Activated pancreatic juice leaking from the organ remnant contains proteases that attack the surrounding tissue, potentially leading to severe inflammation, tissue necrosis, and fistula formation. However, it is difficult to observe pancreatic leakage during surgery and to evaluate the protease activity of leaked fluid at the patient's bedside. This report describes a protein nanocage-based protease ratiometric sensor comprising a pancreatic protease-sensitive small heat-shock protein (HSP) 16.5, which is a naturally occurring protein in Methanococcus jannaschii that forms a spherical structure by self-assembly of 24 subunits, and a chemically conjugated donor-acceptor dye pair for Förster resonance energy transfer (FRET). The HSP-FRET probe was constructed by subunit exchange of each dye-labeled engineered HSP, resulting in a spherical nanocage of approximately 10 nm in diameter, which exhibited very high stability against degradation in blood plasma and no remarkable toxicity in mice. The efficiency of FRET was found to depend on both the dye orientation and the acceptor/donor ratio. Pancreatic proteases, including trypsin, α-chymotrypsin, and elastase, were quantitatively analyzed by fluorescence recovery with high specificity using the HSP-FRET nanoprobe. Furthermore, the HSP-FRET nanoprobe was sufficiently sensitive to detect POPF in the pancreatic juice of patients using only the naked eye within 10 min. Thus, this novel nanoprobe is proposed as an effective and convenient tool for the detection of POPF and the visualization of activated pancreatic juice during gastroenterological surgery. PMID:26845508

  10. Fluorescence Resonance Energy Transfer-based Structural Analysis of the Dihydropyridine Receptor α1S Subunit Reveals Conformational Differences Induced by Binding of the β1a Subunit.

    PubMed

    Mahalingam, Mohana; Perez, Claudio F; Fessenden, James D

    2016-06-24

    The skeletal muscle dihydropyridine receptor α1S subunit plays a key role in skeletal muscle excitation-contraction coupling by sensing membrane voltage changes and then triggering intracellular calcium release. The cytoplasmic loops connecting four homologous α1S structural domains have diverse functions, but their structural arrangement is poorly understood. Here, we used a novel FRET-based method to characterize the relative proximity of these intracellular loops in α1S subunits expressed in intact cells. In dysgenic myotubes, energy transfer was observed from an N-terminal-fused YFP to a FRET acceptor, ReAsH (resorufin arsenical hairpin binder), targeted to each α1S intracellular loop, with the highest FRET efficiencies measured to the α1S II-III loop and C-terminal tail. However, in HEK-293T cells, FRET efficiencies from the α1S N terminus to the II-III and III-IV loops and the C-terminal tail were significantly lower, thus suggesting that these loop structures are influenced by the cellular microenvironment. The addition of the β1a dihydropyridine receptor subunit enhanced FRET to the II-III loop, thus indicating that β1a binding directly affects II-III loop conformation. This specific structural change required the C-terminal 36 amino acids of β1a, which are essential to support EC coupling. Direct FRET measurements between α1S and β1a confirmed that both wild type and truncated β1a bind similarly to α1S These results provide new insights into the role of muscle-specific proteins on the structural arrangement of α1S intracellular loops and point to a new conformational effect of the β1a subunit in supporting skeletal muscle excitation-contraction coupling. PMID:27129199

  11. Fluorescence resonance energy transfer-based real-time polymerase chain reaction method without DNA extraction for the genotyping of F5, F2, F12, MTHFR, and HFE.

    PubMed

    Martinez-Serra, Jordi; Robles, Juan; Nicolàs, Antoni; Gutierrez, Antonio; Ros, Teresa; Amat, Juan Carlos; Alemany, Regina; Vögler, Oliver; Abelló, Aina; Noguera, Aina; Besalduch, Joan

    2014-01-01

    Blood samples are extensively used for the molecular diagnosis of many hematological diseases. The daily practice in a clinical laboratory of molecular diagnosis in hematology involves using a variety of techniques, based on the amplification of nucleic acids. Current methods for polymerase chain reaction (PCR) use purified genomic DNA, mostly isolated from total peripheral blood cells or white blood cells (WBC). In this paper we describe a real-time fluorescence resonance energy transfer-based method for genotyping directly from blood cells. Our strategy is based on an initial isolation of the WBCs, allowing the removal of PCR inhibitors, such as the heme group, present in the erythrocytes. Once the erythrocytes have been lysed, in the LightCycler(®) 2.0 Instrument, we perform a real-time PCR followed by a melting curve analysis for different genes (Factors 2, 5, 12, MTHFR, and HFE). After testing 34 samples comparing the real-time crossing point (CP) values between WBC (5×10(6) WBC/mL) and purified DNA (20 ng/μL), the results for F5 Leiden were as follows: CP mean value for WBC was 29.26±0.566 versus purified DNA 24.79±0.56. Thus, when PCR was performed from WBC (5×10(6) WBC/mL) instead of DNA (20 ng/μL), we observed a delay of about 4 cycles. These small differences in CP values were similar for all genes tested and did not significantly affect the subsequent analysis by melting curves. In both cases the fluorescence values were high enough, allowing a robust genotyping of all these genes without a previous DNA purification/extraction. PMID:25028568

  12. Enhanced energy transport in genetically engineered excitonic networks.

    PubMed

    Park, Heechul; Heldman, Nimrod; Rebentrost, Patrick; Abbondanza, Luigi; Iagatti, Alessandro; Alessi, Andrea; Patrizi, Barbara; Salvalaggio, Mario; Bussotti, Laura; Mohseni, Masoud; Caruso, Filippo; Johnsen, Hannah C; Fusco, Roberto; Foggi, Paolo; Scudo, Petra F; Lloyd, Seth; Belcher, Angela M

    2016-02-01

    One of the challenges for achieving efficient exciton transport in solar energy conversion systems is precise structural control of the light-harvesting building blocks. Here, we create a tunable material consisting of a connected chromophore network on an ordered biological virus template. Using genetic engineering, we establish a link between the inter-chromophoric distances and emerging transport properties. The combination of spectroscopy measurements and dynamic modelling enables us to elucidate quantum coherent and classical incoherent energy transport at room temperature. Through genetic modifications, we obtain a significant enhancement of exciton diffusion length of about 68% in an intermediate quantum-classical regime. PMID:26461447

  13. Enhanced energy transport in genetically engineered excitonic networks

    NASA Astrophysics Data System (ADS)

    Park, Heechul; Heldman, Nimrod; Rebentrost, Patrick; Abbondanza, Luigi; Iagatti, Alessandro; Alessi, Andrea; Patrizi, Barbara; Salvalaggio, Mario; Bussotti, Laura; Mohseni, Masoud; Caruso, Filippo; Johnsen, Hannah C.; Fusco, Roberto; Foggi, Paolo; Scudo, Petra F.; Lloyd, Seth; Belcher, Angela M.

    2016-02-01

    One of the challenges for achieving efficient exciton transport in solar energy conversion systems is precise structural control of the light-harvesting building blocks. Here, we create a tunable material consisting of a connected chromophore network on an ordered biological virus template. Using genetic engineering, we establish a link between the inter-chromophoric distances and emerging transport properties. The combination of spectroscopy measurements and dynamic modelling enables us to elucidate quantum coherent and classical incoherent energy transport at room temperature. Through genetic modifications, we obtain a significant enhancement of exciton diffusion length of about 68% in an intermediate quantum-classical regime.

  14. Optimal Design of RF Energy Harvesting Device Using Genetic Algorithm

    NASA Astrophysics Data System (ADS)

    Mori, T.; Sato, Y.; Adriano, R.; Igarashi, H.

    2015-11-01

    This paper presents optimal design of an RF energy harvesting device using genetic algorithm (GA). In the present RF harvester, a planar spiral antenna (PSA) is loaded with matching and rectifying circuits. On the first stage of the optimal design, the shape parameters of PSA are optimized using . Then, the equivalent circuit of the optimized PSA is derived for optimization of the circuits. Finally, the parameters of RF energy harvesting circuit are optimized to maximize the output power using GA. It is shown that the present optimization increases the output power by a factor of five. The manufactured energy harvester starts working when the input electric field is greater than 0.5 V/m.

  15. Genetics

    MedlinePlus

    Homozygous; Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  16. Genetics

    MedlinePlus

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  17. Energy transfer based photoluminescence spectra of co-doped (Dy3+ + Sm3+): Li2O-LiF-B2O3-ZnO glasses for orange emission

    NASA Astrophysics Data System (ADS)

    Vijayalakshmi, L.; Naveen Kumar, K.; Vijayalakshmi, R. P.

    2016-07-01

    The present paper brings out the results concerning the preparation and optical properties of Sm3+ and Dy3+ each ion separately in different concentrations (0.3, 0.5, 1.0 and 1.5 mol.%) and also together doped (x mol.% Dy3+ + 1.5 mol.% Sm3+): Li2O-LiF-B2O3-ZnO (where x = 0.5, 1.0 and 1.5 mol.%) glasses by a melt quenching method. Structural and thermal properties have been extensively studied for those glasses by XRD and TG/DTA. The compositional analysis has been carried out from FTIR spectral profile. Optical absorption spectral studies were also carried out. Sm3+: LBZ glasses have displayed an intense orange emission at 603 nm (4G5/2 → 6H7/2) with an excitation wavelength at 403 nm and Dy3+: LBZ glasses have shown two emissions located at 485 nm (4F9/2 → 6H15/2; blue) and 574 nm (4F9/2 → 6H13/2; yellow) with an excitation wavelength at 385 nm. Remarkably, it has been identified that the significant increase in the reddish orange emission of Sm3+ ions and diminished yellow emission pertaining to Dy3+ ions in the co-doped LBZ glass system under the excitation of 385 nm which relates to Dy3+ ions. This could be due energy transfer from Dy3+ to Sm3+. The non-radiative energy transfer from Dy3+ to Sm3+ is explained in terms of their emission spectra, donor lifetime, energy level diagram and energy transfer characteristic factors. These significantly enhanced orange emission exhibited glasses could be suggested as potential optical glasses for orange luminescence photonic devices.

  18. Fluorescence Resonance Energy Transfer Based on Interaction of PII and PipX Proteins Provides a Robust and Specific Biosensor for 2-Oxoglutarate, a Central Metabolite and a Signaling Molecule.

    PubMed

    Chen, Hai-Lin; Bernard, Christophe S; Hubert, Pierre; My, Laetitia; Zhang, Cheng-Cai

    2013-12-26

    2-Oxoglutarate is a central metabolite and a signalling molecule in both prokaryotes and eukaryotes. The cellular levels of 2-oxoglutarate vary rapidly in response to environmental changes, but an easy and reliable approach is lacking for the measurement of 2-oxoglutarate. Here we report a biosensor of 2-oxoglutarate based on the 2-oxoglutarate-dependent dissociation of the PII-PipX protein complex from cyanobacteria. Fusions of PII and PipX to either CFP or YFP could form a complex and their interaction could be detected by FRET (Fluorescence Resonance Energy Transfer). Mutations in PII or PipX that affect their interaction strongly decrease the FRET signal. Furthermore, the FRET signal is negatively affected, in a specific and concentration-dependent manner, by the presence of 2-oxoglutarate. This 2-oxoglutarate biosensor responds specifically and rapidly to a large range of 2-oxoglutarate levels, and is highly robust under different conditions, including in bacterial cell extracts. We further used this biosensor to study the interaction between PII and its effectors, and our data indicate that excess in Mg(2+) ions is a key factor for PII to respond efficiently to an increase in 2-oxoglutarate levels. This study paves the way for probing the dynamics of 2-oxoglutarate in various organisms and provides a valuable tool for the understanding of the molecular mechanism in metabolic regulation. PMID:24373496

  19. Development and comparison of a Primer-Probe Energy Transfer based assay and a 5' conjugated Minor Groove Binder assay for sensitive real-time PCR detection of infectious laryngotracheitis virus.

    PubMed

    McMenamy, M J; McKillen, J; Hjertner, B; Kiss, I; Yacoub, A; Leijon, M; Duffy, C; Belák, S; Welsh, M; Allan, G

    2011-08-01

    In this study the design and development of two real-time PCR assays for the rapid, sensitive and specific detection of infectious laryngotracheitis virus (ILTV) DNA is described. A Primer-Probe Energy Transfer (PriProET) assay and 5' conjugated Minor Groove Binder (MGB) method are compared and contrasted. Both have been designed to target the thymidine kinase gene of the ILTV genome. Both PriProET and MGB assays are capable of detecting 20 copies of a DNA standard per reaction and are linear from 2×10(8) to 2×10(2)copies/μl. Neither PriProET, nor MGB reacted with heterologous herpesviruses, indicating a high specificity of the two methods as novel tools for virus detection and identification. This study demonstrates the suitability of PriProET and 5' conjugated MGB probes as real-time PCR chemistries for the diagnosis of respiratory diseases caused by ILTV. PMID:21539859

  20. A new perspective on dark energy modeling via genetic algorithms

    SciTech Connect

    Nesseris, Savvas; García-Bellido, Juan E-mail: juan.garciabellido@uam.es

    2012-11-01

    We use Genetic Algorithms to extract information from several cosmological probes, such as the type Ia supernovae (SnIa), the Baryon Acoustic Oscillations (BAO) and the growth rate of matter perturbations. This is done by implementing a model independent and bias-free reconstruction of the various scales and distances that characterize the data, like the luminosity d{sub L}(z) and the angular diameter distance d{sub A}(z) in the SnIa and BAO data, respectively, or the dependence with redshift of the matter density Ω{sub m}(a) in the growth rate data, fσ{sub 8}(z). These quantities can then be used to reconstruct the expansion history of the Universe, and the resulting Dark Energy (DE) equation of state w(z) in the context of FRW models, or the mass radial function Ω{sub M}(r) in LTB models. In this way, the reconstruction is completely independent of our prior bias. Furthermore, we use this method to test the Etherington relation, ie the well-known relation between the luminosity and the angular diameter distance, η≡d{sub L}(z)/(1+z){sup 2}d{sub A}(z), which is equal to 1 in metric theories of gravity. We find that the present data seem to suggest a 3-σ deviation from one at redshifts z ∼ 0.5. Finally, we present a novel way, within the Genetic Algorithm paradigm, to analytically estimate the errors on the reconstructed quantities by calculating a Path Integral over all possible functions that may contribute to the likelihood. We show that this can be done regardless of the data being correlated or uncorrelated with each other and we also explicitly demonstrate that our approach is in good agreement with other error estimation techniques like the Fisher Matrix approach and the Bootstrap Monte Carlo.

  1. English to Sanskrit Machine Translation Using Transfer Based approach

    NASA Astrophysics Data System (ADS)

    Pathak, Ganesh R.; Godse, Sachin P.

    2010-11-01

    Translation is one of the needs of global society for communicating thoughts and ideas of one country with other country. Translation is the process of interpretation of text meaning and subsequent production of equivalent text, also called as communicating same meaning (message) in another language. In this paper we gave detail information on how to convert source language text in to target language text using Transfer Based Approach for machine translation. Here we implemented English to Sanskrit machine translator using transfer based approach. English is global language used for business and communication but large amount of population in India is not using and understand the English. Sanskrit is ancient language of India most of the languages in India are derived from Sanskrit. Sanskrit can be act as an intermediate language for multilingual translation.

  2. Genome-wide scan revealed genetic loci for energy metabolism in Hispanic children and adolescents

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Genome-wide scans were conducted in a search for genetic locations linked to energy expenditure and substrate oxidation in children. Pedigreed data of 1030 Hispanic children and adolescents were from the Viva La Familia Study, which was designed to investigate genetic and environmental risk factors ...

  3. Genetics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The genus Capsicum represents one of several well characterized Solanaceous genera. A wealth of classical and molecular genetics research is available for the genus. Information gleaned from its cultivated relatives, tomato and potato, provide further insight for basic and applied studies. Early ...

  4. Genetics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Maintaining genetic variation in wild populations of Arctic organisms is fundamental to the long-term persistence of high latitude biodiversity. Variability is important because it provides options for species to respond to changing environmental conditions and novel challenges such as emerging path...

  5. Empirical valence bond models for reactive potential energy surfaces: a parallel multilevel genetic program approach.

    PubMed

    Bellucci, Michael A; Coker, David F

    2011-07-28

    We describe a new method for constructing empirical valence bond potential energy surfaces using a parallel multilevel genetic program (PMLGP). Genetic programs can be used to perform an efficient search through function space and parameter space to find the best functions and sets of parameters that fit energies obtained by ab initio electronic structure calculations. Building on the traditional genetic program approach, the PMLGP utilizes a hierarchy of genetic programming on two different levels. The lower level genetic programs are used to optimize coevolving populations in parallel while the higher level genetic program (HLGP) is used to optimize the genetic operator probabilities of the lower level genetic programs. The HLGP allows the algorithm to dynamically learn the mutation or combination of mutations that most effectively increase the fitness of the populations, causing a significant increase in the algorithm's accuracy and efficiency. The algorithm's accuracy and efficiency is tested against a standard parallel genetic program with a variety of one-dimensional test cases. Subsequently, the PMLGP is utilized to obtain an accurate empirical valence bond model for proton transfer in 3-hydroxy-gamma-pyrone in gas phase and protic solvent. PMID:21806098

  6. Breed and parity effects on energy balance profiles through lactation: evidence of genetically driven body energy change.

    PubMed

    Friggens, N C; Berg, P; Theilgaard, P; Korsgaard, I R; Ingvartsen, K L; Løvendahl, P; Jensen, J

    2007-11-01

    14) there was no significant relationship between live weight and intake, suggesting that, within diet type, the systematic patterns of body energy change through lactation in cows that were kept under stable and sufficient nutritional conditions cannot be accounted for by environmental factors such as constrained intake or condition score at calving. Thus, these patterns appear to have a genetic basis. The proportion of the phenotypic variation (remaining after accounting for fixed effects) accounted for by additive genetic effects varied through lactation from 4.2 to 13.0%. Genetic correlations between early and late lactation energy balances were low and close to zero, suggesting that body energy changes in early and late lactation are genetically independent traits. PMID:17954770

  7. Advancements in gene transfer-based therapy for hemophilia A

    PubMed Central

    Doering, Christopher B; Spencer, H Trent

    2010-01-01

    Gene therapy has promised clinical benefit to those suffering with hemophilia A, but this benefit has not yet been realized. However, during the past two decades, basic and applied gene therapy research has progressed and the goal of gene therapy for hemophilia A is once again in our sights. The hemophilia A patient population suffers from a disease that requires invasive, lifelong management, is exorbitantly expensive to treat, has geographically limited treatment access and can become untreatable due to immune reactions to the treatment product. Subsequent to the cloning of the factor VIII gene and cDNA in the early 1980s, academic and commercial research laboratories began to pursue gene transfer-based therapies to supplement or supplant the available protein replacement therapy. However, to date, clinical trials for gene therapy of hemophilia A have been unsuccessful. Three trials have been conducted with each having tested a different gene-transfer strategy and each demonstrating that there is a considerable barrier to achieving sustained expression of therapeutic amounts of factor VIII. Recent progress has been made in gene-transfer technology and, relevant to hemophilia A, towards increasing the biosynthetic efficiency of factor VIII. These advances are now being combined to develop novel strategies to treat and possibly cure hemophilia A. PMID:20577574

  8. GENETIC IMPROVEMENT OF SWITCHGRASS AS A BIOMASS ENERGY CROP

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Switchgrass, Panicum virgatum, has been identified as a primary herbaceous biomass energy crop for use in temperate areas. To date, switchgrass has been primarily used as a warm-season pasture grass in the Great Plains and Midwest, USA. Previously developed cultivars or varieties have been release...

  9. Energy Consumption Forecasting Using Semantic-Based Genetic Programming with Local Search Optimizer.

    PubMed

    Castelli, Mauro; Trujillo, Leonardo; Vanneschi, Leonardo

    2015-01-01

    Energy consumption forecasting (ECF) is an important policy issue in today's economies. An accurate ECF has great benefits for electric utilities and both negative and positive errors lead to increased operating costs. The paper proposes a semantic based genetic programming framework to address the ECF problem. In particular, we propose a system that finds (quasi-)perfect solutions with high probability and that generates models able to produce near optimal predictions also on unseen data. The framework blends a recently developed version of genetic programming that integrates semantic genetic operators with a local search method. The main idea in combining semantic genetic programming and a local searcher is to couple the exploration ability of the former with the exploitation ability of the latter. Experimental results confirm the suitability of the proposed method in predicting the energy consumption. In particular, the system produces a lower error with respect to the existing state-of-the art techniques used on the same dataset. More importantly, this case study has shown that including a local searcher in the geometric semantic genetic programming system can speed up the search process and can result in fitter models that are able to produce an accurate forecasting also on unseen data. PMID:26106410

  10. Energy Consumption Forecasting Using Semantic-Based Genetic Programming with Local Search Optimizer

    PubMed Central

    Vanneschi, Leonardo

    2015-01-01

    Energy consumption forecasting (ECF) is an important policy issue in today's economies. An accurate ECF has great benefits for electric utilities and both negative and positive errors lead to increased operating costs. The paper proposes a semantic based genetic programming framework to address the ECF problem. In particular, we propose a system that finds (quasi-)perfect solutions with high probability and that generates models able to produce near optimal predictions also on unseen data. The framework blends a recently developed version of genetic programming that integrates semantic genetic operators with a local search method. The main idea in combining semantic genetic programming and a local searcher is to couple the exploration ability of the former with the exploitation ability of the latter. Experimental results confirm the suitability of the proposed method in predicting the energy consumption. In particular, the system produces a lower error with respect to the existing state-of-the art techniques used on the same dataset. More importantly, this case study has shown that including a local searcher in the geometric semantic genetic programming system can speed up the search process and can result in fitter models that are able to produce an accurate forecasting also on unseen data. PMID:26106410

  11. Heavy ion mutagenesis: linear energy transfer effects and genetic linkage

    NASA Technical Reports Server (NTRS)

    Kronenberg, A.; Gauny, S.; Criddle, K.; Vannais, D.; Ueno, A.; Kraemer, S.; Waldren, C. A.; Chatterjee, A. (Principal Investigator)

    1995-01-01

    We have characterized a series of 69 independent mutants at the endogenous hprt locus of human TK6 lymphoblasts and over 200 independent S1-deficient mutants of the human x hamster hybrid cell line AL arising spontaneously or following low-fluence exposures to densely ionizing Fe ions (600 MeV/amu, linear energy transfer = 190 keV/microns). We find that large deletions are common. The entire hprt gene (> 44 kb) was missing in 19/39 Fe-induced mutants, while only 2/30 spontaneous mutants lost the entire hprt coding sequence. When the gene of interest (S1 locus = M1C1 gene) is located on a nonessential human chromosome 11, multilocus deletions of several million base pairs are observed frequently. The S1 mutation frequency is more than 50-fold greater than the frequency of hprt mutants in the same cells. Taken together, these results suggest that low-fluence exposures to Fe ions are often cytotoxic due to their ability to create multilocus deletions that may often include the loss of essential genes. In addition, the tumorigenic potential of these HZE heavy ions may be due to the high potential for loss of tumor suppressor genes. The relative insensitivity of the hprt locus to mutation is likely due to tight linkage to a gene that is required for viability.

  12. Genetic Determinants of Atherosclerosis, Obesity and Energy Balance in Consomic Mice

    PubMed Central

    Spiezio, Sabrina H.; Amon, Lynn M.; McMillen, Timothy S.; Vick, Cynthia M.; Houston, Barbara A.; Caldwell, Mark; Ogimoto, Kayoko; Morton, Gregory J.; Kirk, Elizabeth A.; Schwartz, Michael W.; Nadeau, Joseph H.; LeBoeuf, Renée C.

    2014-01-01

    Metabolic diseases such as obesity and atherosclerosis result from complex interactions between environmental factors and genetic variants. A panel of chromosome substitution strains (CSSs) was developed to characterize genetic and dietary factors contributing to metabolic diseases and other biological traits and biomedical conditions. Our goal here was to identify quantitative trait loci (QTLs) contributing to obesity, energy expenditure and atherosclerosis. Parental strains C57BL/6 and A/J together with a panel of 21 CSSs derived from these progenitors were subjected to chronic feeding of rodent chow and atherosclerotic (females) or diabetogenic (males) test diets, and evaluated for a variety of metabolic phenotypes including several traits unique to this report, namely fat pad weights, energy balance and atherosclerosis. A total of 297 QTLs across 35 traits were discovered, two of which provided significant protection from atherosclerosis, and several dozen QTLs modulated body weight, body composition and circulating lipid levels in females and males. While several QTLs confirmed previous reports, most QTLs were novel. Finally, we applied the CSS quantitative genetic approach to energy balance, and identified three novel QTLs controlling energy expenditure and one QTL modulating food intake. Overall, we identified many new QTLs and phenotyped several novel traits in this mouse model of diet-induced metabolic diseases. PMID:25001233

  13. Genetic determinants of atherosclerosis, obesity, and energy balance in consomic mice.

    PubMed

    Spiezio, Sabrina H; Amon, Lynn M; McMillen, Timothy S; Vick, Cynthia M; Houston, Barbara A; Caldwell, Mark; Ogimoto, Kayoko; Morton, Gregory J; Kirk, Elizabeth A; Schwartz, Michael W; Nadeau, Joseph H; LeBoeuf, Renée C

    2014-12-01

    Metabolic diseases such as obesity and atherosclerosis result from complex interactions between environmental factors and genetic variants. A panel of chromosome substitution strains (CSSs) was developed to characterize genetic and dietary factors contributing to metabolic diseases and other biological traits and biomedical conditions. Our goal here was to identify quantitative trait loci (QTLs) contributing to obesity, energy expenditure, and atherosclerosis. Parental strains C57BL/6 and A/J together with a panel of 21 CSSs derived from these progenitors were subjected to chronic feeding of rodent chow and atherosclerotic (females) or diabetogenic (males) test diets, and evaluated for a variety of metabolic phenotypes including several traits unique to this report, namely fat pad weights, energy balance, and atherosclerosis. A total of 297 QTLs across 35 traits were discovered, two of which provided significant protection from atherosclerosis, and several dozen QTLs modulated body weight, body composition, and circulating lipid levels in females and males. While several QTLs confirmed previous reports, most QTLs were novel. Finally, we applied the CSS quantitative genetic approach to energy balance, and identified three novel QTLs controlling energy expenditure and one QTL modulating food intake. Overall, we identified many new QTLs and phenotyped several novel traits in this mouse model of diet-induced metabolic diseases. PMID:25001233

  14. Systems genetics analysis of body weight and energy metabolism traits in Drosophila melanogaster

    PubMed Central

    2010-01-01

    Background Obesity and phenotypic traits associated with this condition exhibit significant heritability in natural populations of most organisms. While a number of genes and genetic pathways have been implicated to play a role in obesity associated traits, the genetic architecture that underlies the natural variation in these traits is largely unknown. Here, we used 40 wild-derived inbred lines of Drosophila melanogaster to quantify genetic variation in body weight, the content of three major metabolites (glycogen, triacylglycerol, and glycerol) associated with obesity, and metabolic rate in young flies. We chose these lines because they were previously screened for variation in whole-genome transcript abundance and in several adult life-history traits, including longevity, resistance to starvation stress, chill-coma recovery, mating behavior, and competitive fitness. This enabled us not only to identify candidate genes and transcriptional networks that might explain variation for energy metabolism traits, but also to investigate the genetic interrelationships among energy metabolism, behavioral, and life-history traits that have evolved in natural populations. Results We found significant genetically based variation in all traits. Using a genome-wide association screen for single feature polymorphisms and quantitative trait transcripts, we identified 337, 211, 237, 553, and 152 novel candidate genes associated with body weight, glycogen content, triacylglycerol storage, glycerol levels, and metabolic rate, respectively. Weighted gene co-expression analyses grouped transcripts associated with each trait in significant modules of co-expressed genes and we interpreted these modules in terms of their gene enrichment based on Gene Ontology analysis. Comparison of gene co-expression modules for traits in this study with previously determined modules for life-history traits identified significant modular pleiotropy between glycogen content, body weight, competitive

  15. Energy crops for biofuel feedstocks: facts and recent patents on genetic manipulation to improve biofuel crops.

    PubMed

    Kumar, Suresh

    2013-12-01

    Burning fossil-fuels to meet the global energy requirements by human being has intensified the concerns of increasing concentrations of greenhouse gases. Therefore, serious efforts are required to develop nonfossil-based renewable energy sources. Plants are more efficient in utilizing solar energy to convert it into biomass which can be used as feedstocks for biofuel production. Hence with the increasing demands of energy and the needs of cost-effective, sustainable production of fuels, it has become necessary to switch over to plant biomass as a renewable source of energy. Biofuels derived from more sustainable biological materials such as lignocellulosic plant residues, considered as second generation biofuels, are more dependable. However, there are technical challenges such as pretreatment and hydrolysis of lignocellulosic biomass to convert it into fermentable sugars. Plant genetic engineering has already proven its potential in modifying cell wall composition of plants for enhancing the efficiency of biofuel production. Interest and potential in the area are very much evident from the growing number of patents in the recent years on the subject. In this review, recent trends in genetic engineering of energy crops for biofuel production have been introduced, and strategies for the future developments have been discussed. PMID:24456235

  16. Mixing Energy Models in Genetic Algorithms for On-Lattice Protein Structure Prediction

    PubMed Central

    Rashid, Mahmood A.; Newton, M. A. Hakim; Hoque, Md. Tamjidul; Sattar, Abdul

    2013-01-01

    Protein structure prediction (PSP) is computationally a very challenging problem. The challenge largely comes from the fact that the energy function that needs to be minimised in order to obtain the native structure of a given protein is not clearly known. A high resolution 20 × 20 energy model could better capture the behaviour of the actual energy function than a low resolution energy model such as hydrophobic polar. However, the fine grained details of the high resolution interaction energy matrix are often not very informative for guiding the search. In contrast, a low resolution energy model could effectively bias the search towards certain promising directions. In this paper, we develop a genetic algorithm that mainly uses a high resolution energy model for protein structure evaluation but uses a low resolution HP energy model in focussing the search towards exploring structures that have hydrophobic cores. We experimentally show that this mixing of energy models leads to significant lower energy structures compared to the state-of-the-art results. PMID:24224180

  17. Phenotypic and genetic relationships between residual energy intake and growth, feed intake, and carcass traits of young bulls.

    PubMed

    Jensen, J; Mao, I L; Andersen, B B; Madsen, P

    1992-02-01

    Residual energy intake, defined as actual minus predicted energy intake during a production period, was estimated for each of 650 bull calves of 31 Holstein Friesian or Brown Swiss sires. Residual energy intake, measured under ad libitum feeding, had heritabilities similar to those of growth rate and energy conversion ratio with an estimate of approximately .3. Residual energy intake was related to average daily energy intake both phenotypically and genetically such that selection for decreased residual energy intake would lead to a decrease in daily feed intake. Such selection would also tend to increase carcass fatness (i.e., genetically fat animals are the most efficient). Residual energy intake estimated with and without correction for carcass composition were closely correlated. Thus, residual energy intake may be estimated without the knowledge of carcass composition in growing bulls of dual-purpose breeds. PMID:1548200

  18. A new neutron energy spectrum unfolding code using a two steps genetic algorithm

    NASA Astrophysics Data System (ADS)

    Shahabinejad, H.; Hosseini, S. A.; Sohrabpour, M.

    2016-03-01

    A new neutron spectrum unfolding code TGASU (Two-steps Genetic Algorithm Spectrum Unfolding) has been developed to unfold the neutron spectrum from a pulse height distribution which was calculated using the MCNPX-ESUT computational Monte Carlo code. To perform the unfolding process, the response matrices were generated using the MCNPX-ESUT computational code. Both one step (common GA) and two steps GAs have been implemented to unfold the neutron spectra. According to the obtained results, the new two steps GA code results has shown closer match in all energy regions and particularly in the high energy regions. The results of the TGASU code have been compared with those of the standard spectra, LSQR method and GAMCD code. The results of the TGASU code have been demonstrated to be more accurate than that of the existing computational codes for both under-determined and over-determined problems.

  19. The genetic basis of energy conservation in the sulfate-reducing bacterium Desulfovibrio alaskensis G20

    DOE PAGESBeta

    Price, Morgan N.; Ray, Jayashree; Wetmore, Kelly M.; Kuehl, Jennifer V.; Bauer, Stefan; Deutschbauer, Adam M.; Arkin, Adam P.

    2014-10-31

    Sulfate-reducing bacteria play major roles in the global carbon and sulfur cycles, but it remains unclear how reducing sulfate yields energy. To determine the genetic basis of energy conservation, we measured the fitness of thousands of pooled mutants of Desulfovibrio alaskensis G20 during growth in 12 different combinations of electron donors and acceptors. We show that ion pumping by the ferredoxin:NADH oxidoreductase Rnf is required whenever substrate-level phosphorylation is not possible. The uncharacterized complex Hdr/flox-1 (Dde_1207:13) is sometimes important alongside Rnf and may perform an electron bifurcation to generate more reduced ferredoxin from NADH to allow further ion pumping. Similarly,more » during the oxidation of malate or fumarate, the electron-bifurcating transhydrogenase NfnAB-2 (Dde_1250:1) is important and may generate reduced ferredoxin to allow additional ion pumping by Rnf. During formate oxidation, the periplasmic [NiFeSe] hydrogenase HysAB is required, which suggests that hydrogen forms in the periplasm, diffuses to the cytoplasm, and is used to reduce ferredoxin, thus providing a substrate for Rnf. We found that during hydrogen utilization, the transmembrane electron transport complex Tmc is important and may move electrons from the periplasm into the cytoplasmic sulfite reduction pathway. Finally, mutants of many other putative electron carriers have no clear phenotype, which suggests that they are not important under our growth conditions, although we cannot rule out genetic redundancy.« less

  20. The genetic basis of energy conservation in the sulfate-reducing bacterium Desulfovibrio alaskensis G20

    SciTech Connect

    Price, Morgan N.; Ray, Jayashree; Wetmore, Kelly M.; Kuehl, Jennifer V.; Bauer, Stefan; Deutschbauer, Adam M.; Arkin, Adam P.

    2014-10-31

    Sulfate-reducing bacteria play major roles in the global carbon and sulfur cycles, but it remains unclear how reducing sulfate yields energy. To determine the genetic basis of energy conservation, we measured the fitness of thousands of pooled mutants of Desulfovibrio alaskensis G20 during growth in 12 different combinations of electron donors and acceptors. We show that ion pumping by the ferredoxin:NADH oxidoreductase Rnf is required whenever substrate-level phosphorylation is not possible. The uncharacterized complex Hdr/flox-1 (Dde_1207:13) is sometimes important alongside Rnf and may perform an electron bifurcation to generate more reduced ferredoxin from NADH to allow further ion pumping. Similarly, during the oxidation of malate or fumarate, the electron-bifurcating transhydrogenase NfnAB-2 (Dde_1250:1) is important and may generate reduced ferredoxin to allow additional ion pumping by Rnf. During formate oxidation, the periplasmic [NiFeSe] hydrogenase HysAB is required, which suggests that hydrogen forms in the periplasm, diffuses to the cytoplasm, and is used to reduce ferredoxin, thus providing a substrate for Rnf. We found that during hydrogen utilization, the transmembrane electron transport complex Tmc is important and may move electrons from the periplasm into the cytoplasmic sulfite reduction pathway. Finally, mutants of many other putative electron carriers have no clear phenotype, which suggests that they are not important under our growth conditions, although we cannot rule out genetic redundancy.

  1. The genetic basis of energy conservation in the sulfate-reducing bacterium Desulfovibrio alaskensis G20

    PubMed Central

    Price, Morgan N.; Ray, Jayashree; Wetmore, Kelly M.; Kuehl, Jennifer V.; Bauer, Stefan; Deutschbauer, Adam M.; Arkin, Adam P.

    2014-01-01

    Sulfate-reducing bacteria play major roles in the global carbon and sulfur cycles, but it remains unclear how reducing sulfate yields energy. To determine the genetic basis of energy conservation, we measured the fitness of thousands of pooled mutants of Desulfovibrio alaskensis G20 during growth in 12 different combinations of electron donors and acceptors. We show that ion pumping by the ferredoxin:NADH oxidoreductase Rnf is required whenever substrate-level phosphorylation is not possible. The uncharacterized complex Hdr/flox-1 (Dde_1207:13) is sometimes important alongside Rnf and may perform an electron bifurcation to generate more reduced ferredoxin from NADH to allow further ion pumping. Similarly, during the oxidation of malate or fumarate, the electron-bifurcating transhydrogenase NfnAB-2 (Dde_1250:1) is important and may generate reduced ferredoxin to allow additional ion pumping by Rnf. During formate oxidation, the periplasmic [NiFeSe] hydrogenase HysAB is required, which suggests that hydrogen forms in the periplasm, diffuses to the cytoplasm, and is used to reduce ferredoxin, thus providing a substrate for Rnf. During hydrogen utilization, the transmembrane electron transport complex Tmc is important and may move electrons from the periplasm into the cytoplasmic sulfite reduction pathway. Finally, mutants of many other putative electron carriers have no clear phenotype, which suggests that they are not important under our growth conditions, although we cannot rule out genetic redundancy. PMID:25400629

  2. Energy-efficient waveform shapes for neural stimulation revealed with a genetic algorithm

    NASA Astrophysics Data System (ADS)

    Wongsarnpigoon, Amorn; Grill, Warren M.

    2010-08-01

    The energy efficiency of stimulation is an important consideration for battery-powered implantable stimulators. We used a genetic algorithm (GA) to determine the energy-optimal waveform shape for neural stimulation. The GA was coupled to a computational model of extracellular stimulation of a mammalian myelinated axon. As the GA progressed, waveforms became increasingly energy efficient and converged upon an energy-optimal shape. The results of the GA were consistent across several trials, and resulting waveforms resembled truncated Gaussian curves. When constrained to monophasic cathodic waveforms, the GA produced waveforms that were symmetric about the peak, which occurred approximately during the middle of the pulse. However, when the cathodic waveforms were coupled to rectangular charge-balancing anodic pulses, the location and sharpness of the peak varied with the duration and timing (i.e., before or after the cathodic phase) of the anodic phase. In a model of a population of mammalian axons and in vivo experiments on a cat sciatic nerve, the GA-optimized waveforms were more energy efficient and charge efficient than several conventional waveform shapes used in neural stimulation. If used in implantable neural stimulators, GA-optimized waveforms could prolong battery life, thereby reducing the frequency of recharge intervals, the volume of implanted pulse generators, and the costs and risks of battery-replacement surgeries.

  3. Energy-efficient waveform shapes for neural stimulation revealed with a genetic algorithm.

    PubMed

    Wongsarnpigoon, Amorn; Grill, Warren M

    2010-08-01

    The energy efficiency of stimulation is an important consideration for battery-powered implantable stimulators. We used a genetic algorithm (GA) to determine the energy-optimal waveform shape for neural stimulation. The GA was coupled to a computational model of extracellular stimulation of a mammalian myelinated axon. As the GA progressed, waveforms became increasingly energy efficient and converged upon an energy-optimal shape. The results of the GA were consistent across several trials, and resulting waveforms resembled truncated Gaussian curves. When constrained to monophasic cathodic waveforms, the GA produced waveforms that were symmetric about the peak, which occurred approximately during the middle of the pulse. However, when the cathodic waveforms were coupled to rectangular charge-balancing anodic pulses, the location and sharpness of the peak varied with the duration and timing (i.e., before or after the cathodic phase) of the anodic phase. In a model of a population of mammalian axons and in vivo experiments on a cat sciatic nerve, the GA-optimized waveforms were more energy efficient and charge efficient than several conventional waveform shapes used in neural stimulation. If used in implantable neural stimulators, GA-optimized waveforms could prolong battery life, thereby reducing the frequency of recharge intervals, the volume of implanted pulse generators, and the costs and risks of battery-replacement surgeries. PMID:20571186

  4. Challenges and Opportunities Associated with Simultaneous Energy Cane and Sugarcane Genetic Improvement -- Results of a Survey of International Sugarcane Breeders

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Following Brazil's dramatic success in utilizing sugarcane (Saccharum spp.) for large-scale ethanol production, and with a growing interest in energy crops worldwide, sugarcane breeders have been charged with genetically improving cane as an energy crop. We conducted a survey of sugarcane breeders i...

  5. Guided macro-mutation in a graded energy based genetic algorithm for protein structure prediction.

    PubMed

    Rashid, Mahmood A; Iqbal, Sumaiya; Khatib, Firas; Hoque, Md Tamjidul; Sattar, Abdul

    2016-04-01

    Protein structure prediction is considered as one of the most challenging and computationally intractable combinatorial problem. Thus, the efficient modeling of convoluted search space, the clever use of energy functions, and more importantly, the use of effective sampling algorithms become crucial to address this problem. For protein structure modeling, an off-lattice model provides limited scopes to exercise and evaluate the algorithmic developments due to its astronomically large set of data-points. In contrast, an on-lattice model widens the scopes and permits studying the relatively larger proteins because of its finite set of data-points. In this work, we took the full advantage of an on-lattice model by using a face-centered-cube lattice that has the highest packing density with the maximum degree of freedom. We proposed a graded energy-strategically mixes the Miyazawa-Jernigan (MJ) energy with the hydrophobic-polar (HP) energy-based genetic algorithm (GA) for conformational search. In our application, we introduced a 2×2 HP energy guided macro-mutation operator within the GA to explore the best possible local changes exhaustively. Conversely, the 20×20 MJ energy model-the ultimate objective function of our GA that needs to be minimized-considers the impacts amongst the 20 different amino acids and allow searching the globally acceptable conformations. On a set of benchmark proteins, our proposed approach outperformed state-of-the-art approaches in terms of the free energy levels and the root-mean-square deviations. PMID:26878130

  6. High-energy mode-locked fiber lasers using multiple transmission filters and a genetic algorithm.

    PubMed

    Fu, Xing; Kutz, J Nathan

    2013-03-11

    We theoretically demonstrate that in a laser cavity mode-locked by nonlinear polarization rotation (NPR) using sets of waveplates and passive polarizer, the energy performance can be significantly increased by incorporating multiple NPR filters. The NPR filters are engineered so as to mitigate the multi-pulsing instability in the laser cavity which is responsible for limiting the single pulse per round trip energy in a myriad of mode-locked cavities. Engineering of the NPR filters for performance is accomplished by implementing a genetic algorithm that is capable of systematically identifying viable and optimal NPR settings in a vast parameter space. Our study shows that five NPR filters can increase the cavity energy by approximately a factor of five, with additional NPRs contributing little or no enhancements beyond this. With the advent and demonstration of electronic controls for waveplates and polarizers, the analysis suggests a general design and engineering principle that can potentially close the order of magnitude energy gap between fiber based mode-locked lasers and their solid state counterparts. PMID:23482223

  7. Energy Dense, Protein Restricted Diet Increases Adiposity and Perturbs Metabolism in Young, Genetically Lean Pigs

    PubMed Central

    Fisher, Kimberly D.; Scheffler, Tracy L.; Kasten, Steven C.; Reinholt, Brad M.; van Eyk, Gregory R.; Escobar, Jeffery; Scheffler, Jason M.; Gerrard, David E.

    2013-01-01

    Animal models of obesity and metabolic dysregulation during growth (or childhood) are lacking. Our objective was to increase adiposity and induce metabolic syndrome in young, genetically lean pigs. Pre-pubertal female pigs, age 35 d, were fed a high-energy diet (HED; n = 12), containing 15% tallow, 35% refined sugars and 9.1–12.9% crude protein, or a control corn-based diet (n = 11) with 12.2–19.2% crude protein for 16 wk. Initially, HED pigs self-regulated energy intake similar to controls, but by wk 5, consumed more (P<0.001) energy per kg body weight. At wk 15, pigs were subjected to an oral glucose tolerance test (OGTT); blood glucose increased (P<0.05) in control pigs and returned to baseline levels within 60 min. HED pigs were hyperglycemic at time 0, and blood glucose did not return to baseline (P = 0.01), even 4 h post-challenge. During OGTT, glucose area under the curve (AUC) was higher and insulin AUC was lower in HED pigs compared to controls (P = 0.001). Chronic HED intake increased (P<0.05) subcutaneous, intramuscular, and perirenal fat deposition, and induced hyperglycemia, hypoinsulinemia, and low-density lipoprotein hypercholesterolemia. A subset of HED pigs (n = 7) was transitioned back to a control diet for an additional six weeks. These pigs were subjected to an additional OGTT at 22 wk. Glucose AUC and insulin AUC did not improve, supporting that dietary intervention was not sufficient to recover glucose tolerance or insulin production. These data suggest a HED may be used to increase adiposity and disrupt glucose homeostasis in young, growing pigs. PMID:23991090

  8. Calibration of mass transfer-based models to predict reference crop evapotranspiration

    NASA Astrophysics Data System (ADS)

    Valipour, Mohammad

    2015-03-01

    The present study aims to compare mass transfer-based models to determine the best model under different weather conditions. The results showed that the Penman model estimates reference crop evapotranspiration better than other models in most provinces of Iran (15 provinces). However, the values of R 2 were less than 0.90 for 24 provinces of Iran. Therefore, the models were calibrated, and precision of estimation was increased (the values of R 2 were less than 0.90 for only ten provinces in the modified models). The mass transfer-based models estimated reference crop evapotranspiration in the northern (near the Caspian Sea) and southern (near the Persian Gulf) Iran (annual relative humidity more than 65 %) better than other provinces. The best values of R 2 were 0.96 and 0.98 for the Trabert and Rohwer models in Ardabil (AR) and Mazandaran (MZ) provinces before and after calibration, respectively. Finally, a list of the best performances of each model was presented to use other regions and next studies according to values of mean, maximum, and minimum temperature, relative humidity, and wind speed. The best weather conditions to use mass transfer-based equations are 8-18 °C (with the exception of Ivanov), <25.5 °C, <15 °C, >55 % for mean, maximum, and minimum temperature, and relative humidity, respectively.

  9. Optimizing energy yields in black locust through genetic selection: final report

    SciTech Connect

    Bongarten, B.C.; Merkle, S.A.

    1996-10-01

    The purpose of this work was to assess the magnitude of improvement in biomass yield of black locust possible through breeding, and to determine methods for efficiently capturing the yield improvement achievable from selective breeding. To meet this overall objective, six tasks were undertaken to determine: (1) the amount and geographic pattern of natural genetic variation, (2) the mating system of the species, (3) quantitative genetic parameters of relevant traits, (4) the relationship between nitrogen fixation and growth in black locust, (5) the viability of mass vegetative propagation, and (6) the feasibility of improvement through genetic transformation.

  10. Genetic variance and covariance patterns for body weight and energy balance characters in an advanced intercross population of mice

    PubMed Central

    Leamy, Larry J; Elo, Kari; Nielsen, Merlyn K; Van Vleck, L Dale; Pomp, Daniel

    2005-01-01

    We estimated heritabilities and genetic correlations for a suite of 15 characters in five functional groups in an advanced intercross population of over 2000 mice derived from a cross of inbred lines selected for high and low heat loss. Heritabilities averaged 0.56 for three body weights, 0.23 for two energy balance characters, 0.48 for three bone characters, 0.35 for four measures of adiposity, and 0.27 for three organ weights, all of which were generally consistent in magnitude with estimates derived in previous studies. Genetic correlations varied from -0.65 to +0.98, and were higher within these functional groups than between groups. These correlations generally conformed to a priori expectations, being positive in sign for energy expenditure and consumption (+0.24) and negative in sign for energy expenditure and adiposity (-0.17). The genetic correlations of adiposity with body weight at 3, 6, and 12 weeks of age (-0.29, -0.22, -0.26) all were negative in sign but not statistically significant. The independence of body weight and adiposity suggests that this advanced intercross population is ideal for a comprehensive discovery of genes controlling regulation of mammalian adiposity that are distinct from those for body weight. PMID:16194522

  11. Genetic Regulation of Grass Biomass Accumulation and Biological Conversion Quality (2013 DOE JGI Genomics of Energy and Environment 8th Annual User Meeting)

    SciTech Connect

    Hazen, Sam

    2013-03-01

    Sam Hazen of the University of Massachusetts on "Genetic Regulation of Grass Biomass Accumulation and Biological Conversion Quality" at the 8th Annual Genomics of Energy & Environment Meeting on March 27, 2013 in Walnut Creek, Calif.

  12. Energy optimization of the fin/rudder roll stabilization system based on the multi-objective genetic algorithm (MOGA)

    NASA Astrophysics Data System (ADS)

    Yu, Lijun; Liu, Shaoying; Liu, Fanming; Wang, Hui

    2015-06-01

    Energy optimization is one of the key problems for ship roll reduction systems in the last decade. According to the nonlinear characteristics of ship motion, the four degrees of freedom nonlinear model of Fin/Rudder roll stabilization can be established. This paper analyzes energy consumption caused by overcoming the resistance and the yaw, which is added to the fin/rudder roll stabilization system as new performance index. In order to achieve the purpose of the roll reduction, ship course keeping and energy optimization, the self-tuning PID controller based on the multi-objective genetic algorithm (MOGA) method is used to optimize performance index. In addition, random weight coefficient is adopted to build a multi-objective genetic algorithm optimization model. The objective function is improved so that the objective function can be normalized to a constant level. Simulation results showed that the control method based on MOGA, compared with the traditional control method, not only improves the efficiency of roll stabilization and yaw control precision, but also optimizes the energy of the system. The proposed methodology can get a better performance at different sea states.

  13. EFFECT OF DIETARY LYSINE AND GENETICS ON INDICES OF ENERGY AND PROTEIN METABOLISM IN RAINBOW TROUT

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Since feed cost represents about 70% of production cost, inexpensive protein alternatives are desirable replacements for fish meal. One drawback to the replacement of fish meal with soybean meal is that the latter protein source is first limiting in lysine. To investigate if different genetic line...

  14. Toward a new radiative-transfer-based model for remote sensing of terrestrial surface albedo.

    PubMed

    Cui, Shengcheng; Zhen, Xiaobing; Wang, Zhen; Yang, Shizhi; Zhu, WenYue; Li, Xuebin; Huang, Honghua; Wei, Heli

    2015-08-15

    This Letter formulates a simple yet accurate radiative-transfer-based theoretical model to characterize the fraction of radiation reflected by terrestrial surfaces. Emphasis is placed on the concept of inhomogeneous distribution of the diffuse sky radiation function (DSRF) and multiple interaction effects (MIE). Neglecting DSRF and MIE produces a -1.55% mean relative bias in albedo estimates. The presented model can elucidate the impact of DSRF on the surface volume scattering and geometry-optical scattering components, respectively, especially for slant illuminations with solar zenith angles (SZA) larger than 50°. Particularly striking in the comparisons between our model and ground-based observations is the achievement of the agreement level, indicating that our model can effectively resolve the longstanding issue in accurately estimating albedo at extremely large SZAs and is promising for land-atmosphere interactions studies. PMID:26274674

  15. Genetic Resources of Energy Crops: Biological Systems to Combat Climate Change

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Biological systems are expected to contribute to renewable energy production, help stabilize rising levels of green house gases (GHG), and mitigate the risk of global climate change (GCC). Bioenergy crop plants that function as solar energy collectors and thermo-chemical energy storage systems are t...

  16. Multiobjective genetic algorithm conjunctive use optimization for production, cost, and energy with dynamic return flow

    NASA Astrophysics Data System (ADS)

    Peralta, Richard C.; Forghani, Ali; Fayad, Hala

    2014-04-01

    Many real water resources optimization problems involve conflicting objectives for which the main goal is to find a set of optimal solutions on, or near to the Pareto front. E-constraint and weighting multiobjective optimization techniques have shortcomings, especially as the number of objectives increases. Multiobjective Genetic Algorithms (MGA) have been previously proposed to overcome these difficulties. Here, an MGA derives a set of optimal solutions for multiobjective multiuser conjunctive use of reservoir, stream, and (un)confined groundwater resources. The proposed methodology is applied to a hydraulically and economically nonlinear system in which all significant flows, including stream-aquifer-reservoir-diversion-return flow interactions, are simulated and optimized simultaneously for multiple periods. Neural networks represent constrained state variables. The addressed objectives that can be optimized simultaneously in the coupled simulation-optimization model are: (1) maximizing water provided from sources, (2) maximizing hydropower production, and (3) minimizing operation costs of transporting water from sources to destinations. Results show the efficiency of multiobjective genetic algorithms for generating Pareto optimal sets for complex nonlinear multiobjective optimization problems.

  17. cluster: Searching for Unique Low Energy Minima of Structures Using a Novel Implementation of a Genetic Algorithm.

    PubMed

    Kanters, René P F; Donald, Kelling J

    2014-12-01

    A new flexible implementation of a genetic algorithm for locating unique low energy minima of isomers of clusters is described and tested. The strategy employed can be applied to molecular or atomic clusters and has a flexible input structure so that a system with several different elements can be built up from a set of individual atoms or from fragments made up of groups of atoms. This cluster program is tested on several systems, and the results are compared to computational and experimental data from previous studies. The quality of the algorithm for locating reliably the most competitive low energy structures of an assembly of atoms is examined for strongly bound Si-Li clusters, and ZnF2 clusters, and the more weakly interacting water trimers. The use of the nuclear repulsion energy as a duplication criterion, an increasing population size, and avoiding mutation steps without loss of efficacy are distinguishing features of the program. For the Si-Li clusters, a few new low energy minima are identified in the testing of the algorithm, and our results for the metal fluorides and water show very good agreement with the literature. PMID:26583254

  18. [Genetic effects in mice exposed to the 10-km area around the Chernobyl Atomic Energy Station].

    PubMed

    Pomerantseva, M D; Chekhovich, A V; Ramaiĭa, L K; Shevchenko, V A; Shaks, A I; Lobaneva, N V

    1990-10-01

    Mice (CBAxC57BL) F of both sexes were exposed within the 10 km zone of Chernobyl nuclear power station. Genetic damage of phone chronic effect of increased radiation in exposed adult mice and in the course of embryogenesis was studied. The total absorbed radiation doses in testes varied from 1.85 to 0.42 Gy in embryos and from 3.4 to 2.7 Gy in adult males. Increase of dominant lethal mutations (DLM) and abnormal sperm heads (ASH) was only observed right after the end of exposure of adult males. The yield of reciprocal translocations (RT) in these males was relatively low. Among the males exposed at the stage of early embryogenesis, 4 heterozygotes for RT were revealed. In other males of this group the RT yield was low. PMID:2283055

  19. Optimization of energy saving device combined with a propeller using real-coded genetic algorithm

    NASA Astrophysics Data System (ADS)

    Ryu, Tomohiro; Kanemaru, Takashi; Kataoka, Shiro; Arihama, Kiyoshi; Yoshitake, Akira; Arakawa, Daijiro; Ando, Jun

    2014-06-01

    This paper presents a numerical optimization method to improve the performance of the propeller with Turbo-Ring using real-coded genetic algorithm. In the presented method, Unimodal Normal Distribution Crossover (UNDX) and Minimal Generation Gap (MGG) model are used as crossover operator and generation-alternation model, respectively. Propeller characteristics are evaluated by a simple surface panel method "SQCM" in the optimization process. Blade sections of the original Turbo-Ring and propeller are replaced by the NACA66 a = 0.8 section. However, original chord, skew, rake and maximum blade thickness distributions in the radial direction are unchanged. Pitch and maximum camber distributions in the radial direction are selected as the design variables. Optimization is conducted to maximize the efficiency of the propeller with Turbo-Ring. The experimental result shows that the efficiency of the optimized propeller with Turbo-Ring is higher than that of the original propeller with Turbo-Ring.

  20. Energy management of a power-split plug-in hybrid electric vehicle based on genetic algorithm and quadratic programming

    NASA Astrophysics Data System (ADS)

    Chen, Zheng; Mi, Chris Chunting; Xiong, Rui; Xu, Jun; You, Chenwen

    2014-02-01

    This paper introduces an online and intelligent energy management controller to improve the fuel economy of a power-split plug-in hybrid electric vehicle (PHEV). Based on analytic analysis between fuel-rate and battery current at different driveline power and vehicle speed, quadratic equations are applied to simulate the relationship between battery current and vehicle fuel-rate. The power threshold at which engine is turned on is optimized by genetic algorithm (GA) based on vehicle fuel-rate, battery state of charge (SOC) and driveline power demand. The optimal battery current when the engine is on is calculated using quadratic programming (QP) method. The proposed algorithm can control the battery current effectively, which makes the engine work more efficiently and thus reduce the fuel-consumption. Moreover, the controller is still applicable when the battery is unhealthy. Numerical simulations validated the feasibility of the proposed controller.

  1. [Membrane transfer-based colorimetric DNA detection using enzyme modified gold nanoparticles].

    PubMed

    Li, Haiyan; Jing, Fengxiang; Gao, Qiuyue; Jia, Chunping; Chen, Jiwu; Jin, Qinghui; Zhao, Jianlong

    2010-08-01

    We report here a novel membrane transfer-based DNA detection method, in which alkaline phosphatase labeled gold nanoparticle (AuNP) probes were used as a means to amplify the detection signal. In this method, the capture probe P1, complimentary to the 3' end of target DNA, was immobilized on the chip. The multi-component AuNP probes were prepared by co-coating AuNPs with the detecting probe P2, complimentary to the 5' end of target DNA, and two biotin-labeled signal probes (T10 and T40) with different lengths. In the presence of target DNA, DNA hybridization led to the attachment of AuNPs on the chip surface where specific DNA sequences were located in a "sandwich" format. Alkaline phosphatase was then introduced to the surface via biotine-streptavidin interaction. By using BCIP/NBT alkaline phosphatase color development kit, a colorimetric DNA detection was achieved through membrane transfer. The signal on the membrane was then detected by the naked eye or an ordinary optical scanner. The method provided a detection of limit of 1 pmol/L for synthesized target DNA and 0.23 pmol/L for PCR products of Mycobacterium tuberculosis 16S rDNA when the ratio of probes used was 9:1:1 (T10:T40:P2). The method described here has many desirable advantages including high sensitivity, simple operation, and no need of sophisticated equipment. The method can be potentially used for reliable biosensings. PMID:21090120

  2. Genetic approaches to understanding the population-level impact of wind energy development on migratory bats

    SciTech Connect

    Vonhof, Maarten J.; Russell, Amy L.

    2013-09-30

    Documented fatalities of bats at wind turbines have raised serious concerns about the future impacts of increased wind power development on populations of migratory bat species. Yet there is little data on bat population sizes and trends to provide context for understanding the consequences of mortality due to wind power development. Using a large dataset of both nuclear and mitochondrial DNA variation for eastern red bats, we demonstrated that: 1) this species forms a single, panmictic population across their range with no evidence for the historical use of divergent migratory pathways by any portion of the population; 2) the effective size of this population is in the hundreds of thousands to millions; and 3) for large populations, genetic diversity measures and at least one coalescent method are insensitive to even very high rates of population decline over long time scales and until population size has become very small. Our data provide important context for understanding the population-level impacts of wind power development on affected bat species.

  3. Genetic variants in human CLOCK associate with total energy intake and cytokine sleep factors

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Despite the importance of total energy intake in circadian system regulation, no study has related human CLOCK gene polymorphisms and food intake measures. The aim of this study was to investigate associations of five CLOCK single-nucleotide-polymorphisms (SNPs) with food-intake and to explore the p...

  4. [Genetics and genetic counseling].

    PubMed

    Izzi, Claudia; Liut, Francesca; Dallera, Nadia; Mazza, Cinzia; Magistroni, Riccardo; Savoldi, Gianfranco; Scolari, Francesco

    2016-01-01

    Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most frequent genetic disease, characterized by progressive development of bilateral renal cysts. Two causative genes have been identified: PKD1 and PKD2. ADPKD phenotype is highly variable. Typically, ADPKD is an adult onset disease. However, occasionally, ADPKD manifests as very early onset disease. The phenotypic variability of ADPKD can be explained at three genetic levels: genic, allelic and gene modifier effects. Recent advances in molecular screening for PKD gene mutations and the introduction of the new next generation sequencing (NGS)- based genotyping approach have generated considerable improvement regarding the knowledge of genetic basis of ADPKD. The purpose of this article is to provide a comprehensive review of the genetics of ADPKD, focusing on new insights in genotype-phenotype correlation and exploring novel clinical approach to genetic testing. Evaluation of these new genetic information requires a multidisciplinary approach involving a nephrologist and a clinical geneticist. PMID:27067213

  5. Medical genetics

    SciTech Connect

    Nora, J.J.; Fraser, F.C.

    1989-01-01

    This book presents a discussion of medical genetics for the practitioner treating or counseling patients with genetic disease. It includes a discussion of the relationship of heredity and diseases, the chromosomal basis for heredity, gene frequencies, and genetics of development and maldevelopment. The authors also focus on teratology, somatic cell genetics, genetics and cancer, genetics of behavior.

  6. Heterogeneity in genetic variation and energy sink relationships for residual feed intake across research stations and countries

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Our long-term objective is to develop genomic prediction strategies for improving feed efficiency in dairy cattle. In this study, phenotypic data were pooled across multiple research stations to facilitate investigation of the genetic and non-genetic components of feed efficiency in Holstein cattle....

  7. Medical genetics

    SciTech Connect

    Jorde, L.B.; Carey, J.C.; White, R.L.

    1995-10-01

    This book on the subject of medical genetics is a textbook aimed at a very broad audience: principally, medical students, nursing students, graduate, and undergraduate students. The book is actually a primer of general genetics as applied to humans and provides a well-balanced introduction to the scientific and clinical basis of human genetics. The twelve chapters include: Introduction, Basic Cell Biology, Genetic Variation, Autosomal Dominant and Recessive Inheritance, Sex-linked and Mitochondrial Inheritance, Clinical Cytogenetics, Gene Mapping, Immunogenetics, Cancer Genetics, Multifactorial Inheritance and Common Disease, Genetic Screening, Genetic Diagnosis and Gene Therapy, and Clinical Genetics and Genetic Counseling.

  8. Genetic algorithms

    NASA Technical Reports Server (NTRS)

    Wang, Lui; Bayer, Steven E.

    1991-01-01

    Genetic algorithms are mathematical, highly parallel, adaptive search procedures (i.e., problem solving methods) based loosely on the processes of natural genetics and Darwinian survival of the fittest. Basic genetic algorithms concepts are introduced, genetic algorithm applications are introduced, and results are presented from a project to develop a software tool that will enable the widespread use of genetic algorithm technology.

  9. Mitochondrial genetics

    PubMed Central

    Chinnery, Patrick Francis; Hudson, Gavin

    2013-01-01

    Introduction In the last 10 years the field of mitochondrial genetics has widened, shifting the focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) variation in a growing spectrum of human disease. The aim of this review is to guide the reader through some key concepts regarding mitochondria before introducing both classic and emerging mitochondrial disorders. Sources of data In this article, a review of the current mitochondrial genetics literature was conducted using PubMed (http://www.ncbi.nlm.nih.gov/pubmed/). In addition, this review makes use of a growing number of publically available databases including MITOMAP, a human mitochondrial genome database (www.mitomap.org), the Human DNA polymerase Gamma Mutation Database (http://tools.niehs.nih.gov/polg/) and PhyloTree.org (www.phylotree.org), a repository of global mtDNA variation. Areas of agreement The disruption in cellular energy, resulting from defects in mtDNA or defects in the nuclear-encoded genes responsible for mitochondrial maintenance, manifests in a growing number of human diseases. Areas of controversy The exact mechanisms which govern the inheritance of mtDNA are hotly debated. Growing points Although still in the early stages, the development of in vitro genetic manipulation could see an end to the inheritance of the most severe mtDNA disease. PMID:23704099

  10. New Genetics

    MedlinePlus

    ... human genome, behavioral genetics, pharmacogenetics, drug resistance, biofilms, computer modeling. » more Chapter 5: 21st-Century Genetics Covers systems biology, GFP, genetic testing, privacy concerns, DNA forensics, ...

  11. Genetic Counseling

    MedlinePlus

    ... Articles Genetic Counseling Information For... Media Policy Makers Genetic Counseling Language: English Español (Spanish) Recommend on Facebook ... informed decisions about testing and treatment. Reasons for Genetic Counseling There are many reasons that people go ...

  12. Modeling Genetic and Environmental Factors in Biological Systems Using Structural Equation Modeling: An Application to Energy Balance.

    PubMed

    Nock, Nora L; Li, Li; Elston, Robert C

    2009-06-17

    To improve our understanding of the role(s) that genes and environmental factors play in a complex disease, we need statistical approaches that model multiple factors simultaneously in a hierarchical manner that aims to reflect the underlying biological system(s). We present an approach that models genes as latent constructs, defined by multiple variants (single nucleotide polymorphisms, SNPs) within each gene, using the multivariate statistical framework of structural equation modeling (SEM) to model multiple, putative genetic and environmental factors involved in energy imbalance ('obesity') using subjects from a colon polyp case-control study. We found that modeling constructs for the leptin receptor (LEPR) gene (defined by SNPs rs1137100, rs1137101, rs1805096, rs6588147) and the fat mass-and-obesity-associated (FTO) gene (defined by SNPs rs9939609, rs1421085, rs8044769) together with demographic (age, race, gender), physical activity, diet and sleep variables increased the strength of the association (β(std)=-0.13 ± 0.06; p=0.03) between the FTO and obesity constructs compared to that observed in a reduced model with only the FTO and LEPR constructs and demographic variables (β(std)=-0.05 ± 0.03; p=0.08). Several indirect paths, including an association between the LEPR and physical activity constructs (β(std)=-0.15 ± 0.04; p=0.01), were found. Interestingly, removing FTO revealed a marginal association between the LEPR and obesity constructs (β(std)=0.24 ± 0.14; p=0.09), which was not present when FTO was in the model. These results illustrate the importance of modeling multiple relevant genes and other factors in the same model, which is a major strength of this approach. Moreover, our latent gene construct approach exploits the correlation structure between SNPs while capturing overall effects of variation in that gene, which will enable better utilization of candidate gene and genome-wide SNP array data. PMID:21607009

  13. Modeling Genetic and Environmental Factors in Biological Systems Using Structural Equation Modeling: An Application to Energy Balance

    PubMed Central

    Nock, Nora L.; Li, Li; Elston, Robert C.

    2010-01-01

    To improve our understanding of the role(s) that genes and environmental factors play in a complex disease, we need statistical approaches that model multiple factors simultaneously in a hierarchical manner that aims to reflect the underlying biological system(s). We present an approach that models genes as latent constructs, defined by multiple variants (single nucleotide polymorphisms, SNPs) within each gene, using the multivariate statistical framework of structural equation modeling (SEM) to model multiple, putative genetic and environmental factors involved in energy imbalance (‘obesity’) using subjects from a colon polyp case-control study. We found that modeling constructs for the leptin receptor (LEPR) gene (defined by SNPs rs1137100, rs1137101, rs1805096, rs6588147) and the fat mass-and-obesity-associated (FTO) gene (defined by SNPs rs9939609, rs1421085, rs8044769) together with demographic (age, race, gender), physical activity, diet and sleep variables increased the strength of the association (βstd=−0.13 ± 0.06; p=0.03) between the FTO and obesity constructs compared to that observed in a reduced model with only the FTO and LEPR constructs and demographic variables (βstd=−0.05 ± 0.03; p=0.08). Several indirect paths, including an association between the LEPR and physical activity constructs (βstd=−0.15 ± 0.04; p=0.01), were found. Interestingly, removing FTO revealed a marginal association between the LEPR and obesity constructs (βstd=0.24 ± 0.14; p=0.09), which was not present when FTO was in the model. These results illustrate the importance of modeling multiple relevant genes and other factors in the same model, which is a major strength of this approach. Moreover, our latent gene construct approach exploits the correlation structure between SNPs while capturing overall effects of variation in that gene, which will enable better utilization of candidate gene and genome-wide SNP array data. PMID:21607009

  14. Genetic isolation and morphological divergence mediated by high-energy rapids in two cichlid genera from the lower Congo rapids

    PubMed Central

    2010-01-01

    Background It is hypothesized that one of the mechanisms promoting diversification in cichlid fishes in the African Great Lakes has been the well-documented pattern of philopatry along shoreline habitats leading to high levels of genetic isolation among populations. However lake habitats are not the only centers of cichlid biodiversity - certain African rivers also contain large numbers of narrowly endemic species. Patterns of isolation and divergence in these systems have tended to be overlooked and are not well understood. Results We examined genetic and morphological divergence among populations of two narrowly endemic cichlid species, Teleogramma depressum and Lamprologus tigripictilis, from a 100 km stretch of the lower Congo River using both nDNA microsatellites and mtDNA markers along with coordinate-based morphological techniques. In L. tigripictilis, the strongest genetic break was concordant with measurable phenotypic divergence but no morphological disjunction was detected for T. depressum despite significant differentiation at mtDNA and nDNA microsatellite markers. Conclusions The genetic markers revealed patterns of philopatry and estimates of genetic isolation that are among the highest reported for any African cichlid species over a comparable geographic scale. We hypothesize that the high levels of philopatry observed are generated and maintained by the extreme hydrology of the lower Congo River. PMID:20482864

  15. Charge-transfer-based Gas Sensing Using Atomic-layer MoS2

    PubMed Central

    Cho, Byungjin; Hahm, Myung Gwan; Choi, Minseok; Yoon, Jongwon; Kim, Ah Ra; Lee, Young-Joo; Park, Sung-Gyu; Kwon, Jung-Dae; Kim, Chang Su; Song, Myungkwan; Jeong, Yongsoo; Nam, Kee-Seok; Lee, Sangchul; Yoo, Tae Jin; Kang, Chang Goo; Lee, Byoung Hun; Ko, Heung Cho; Ajayan, Pulickel M.; Kim, Dong-Ho

    2015-01-01

    Two-dimensional (2D) molybdenum disulphide (MoS2) atomic layers have a strong potential to be used as 2D electronic sensor components. However, intrinsic synthesis challenges have made this task difficult. In addition, the detection mechanisms for gas molecules are not fully understood. Here, we report a high-performance gas sensor constructed using atomic-layered MoS2 synthesised by chemical vapour deposition (CVD). A highly sensitive and selective gas sensor based on the CVD-synthesised MoS2 was developed. In situ photoluminescence characterisation revealed the charge transfer mechanism between the gas molecules and MoS2, which was validated by theoretical calculations. First-principles density functional theory calculations indicated that NO2 and NH3 molecules have negative adsorption energies (i.e., the adsorption processes are exothermic). Thus, NO2 and NH3 molecules are likely to adsorb onto the surface of the MoS2. The in situ PL characterisation of the changes in the peaks corresponding to charged trions and neutral excitons via gas adsorption processes was used to elucidate the mechanisms of charge transfer between the MoS2 and the gas molecules. PMID:25623472

  16. Charge-transfer-based Gas Sensing Using Atomic-layer MoS2

    NASA Astrophysics Data System (ADS)

    Cho, Byungjin; Hahm, Myung Gwan; Choi, Minseok; Yoon, Jongwon; Kim, Ah Ra; Lee, Young-Joo; Park, Sung-Gyu; Kwon, Jung-Dae; Kim, Chang Su; Song, Myungkwan; Jeong, Yongsoo; Nam, Kee-Seok; Lee, Sangchul; Yoo, Tae Jin; Kang, Chang Goo; Lee, Byoung Hun; Ko, Heung Cho; Ajayan, Pulickel M.; Kim, Dong-Ho

    2015-01-01

    Two-dimensional (2D) molybdenum disulphide (MoS2) atomic layers have a strong potential to be used as 2D electronic sensor components. However, intrinsic synthesis challenges have made this task difficult. In addition, the detection mechanisms for gas molecules are not fully understood. Here, we report a high-performance gas sensor constructed using atomic-layered MoS2 synthesised by chemical vapour deposition (CVD). A highly sensitive and selective gas sensor based on the CVD-synthesised MoS2 was developed. In situ photoluminescence characterisation revealed the charge transfer mechanism between the gas molecules and MoS2, which was validated by theoretical calculations. First-principles density functional theory calculations indicated that NO2 and NH3 molecules have negative adsorption energies (i.e., the adsorption processes are exothermic). Thus, NO2 and NH3 molecules are likely to adsorb onto the surface of the MoS2. The in situ PL characterisation of the changes in the peaks corresponding to charged trions and neutral excitons via gas adsorption processes was used to elucidate the mechanisms of charge transfer between the MoS2 and the gas molecules.

  17. Theory of chemical kinetics and charge transfer based on nonequilibrium thermodynamics.

    PubMed

    Bazant, Martin Z

    2013-05-21

    Advances in the fields of catalysis and electrochemical energy conversion often involve nanoparticles, which can have kinetics surprisingly different from the bulk material. Classical theories of chemical kinetics assume independent reactions in dilute solutions, whose rates are determined by mean concentrations. In condensed matter, strong interactions alter chemical activities and create variations that can dramatically affect the reaction rate. The extreme case is that of a reaction coupled to a phase transformation, whose kinetics must depend not only on the order parameter but also on its gradients at phase boundaries. Reaction-driven phase transformations are common in electrochemistry, when charge transfer is accompanied by ion intercalation or deposition in a solid phase. Examples abound in Li-ion, metal-air, and lead-acid batteries, as well as metal electrodeposition-dissolution. Despite complex thermodynamics, however, the standard kinetic model is the Butler-Volmer equation, based on a dilute solution approximation. The Marcus theory of charge transfer likewise considers isolated reactants and neglects elastic stress, configurational entropy, and other nonidealities in condensed phases. The limitations of existing theories recently became apparent for the Li-ion battery material LixFePO4 (LFP). It has a strong tendency to separate into Li-rich and Li-poor solid phases, which scientists believe limits its performance. Chemists first modeled phase separation in LFP as an isotropic "shrinking core" within each particle, but experiments later revealed striped phase boundaries on the active crystal facet. This raised the question: What is the reaction rate at a surface undergoing a phase transformation? Meanwhile, dramatic rate enhancement was attained with LFP nanoparticles, and classical battery models could not predict the roles of phase separation and surface modification. In this Account, I present a general theory of chemical kinetics, developed over

  18. Genetic Mapping

    MedlinePlus

    ... Genetic Education Resources for Teachers Genomic Careers National DNA Day Online Education Kit Online Genetics Education Resources ... prevalent. Using various laboratory techniques, the scientists isolate DNA from these samples and examine it for unique ...

  19. Genetic counseling

    MedlinePlus

    ... this page: //medlineplus.gov/ency/patientinstructions/000510.htm Genetic counseling To use the sharing features on this ... cystic fibrosis or Down syndrome. Who May Want Genetic Counseling? It is up to you whether or ...

  20. Genetic counseling

    MedlinePlus

    Genetics is the study of heredity, the process of a parent passing certain genes on to their ... certain diseases are also often determined by genes. Genetic counseling is the process where parents can learn ...

  1. Genetic Disorders

    MedlinePlus

    ... This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from ... during your lifetime. There are three types of genetic disorders: Single-gene disorders, where a mutation affects ...

  2. Genetic modification and genetic determinism

    PubMed Central

    Resnik, David B; Vorhaus, Daniel B

    2006-01-01

    In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions. PMID:16800884

  3. Imaging Genetics

    ERIC Educational Resources Information Center

    Munoz, Karen E.; Hyde, Luke W.; Hariri, Ahmad R.

    2009-01-01

    Imaging genetics is an experimental strategy that integrates molecular genetics and neuroimaging technology to examine biological mechanisms that mediate differences in behavior and the risks for psychiatric disorder. The basic principles in imaging genetics and the development of the field are discussed.

  4. Genetic barcodes

    DOEpatents

    Weier, Heinz -Ulrich G

    2015-08-04

    Herein are described multicolor FISH probe sets termed "genetic barcodes" targeting several cancer or disease-related loci to assess gene rearrangements and copy number changes in tumor cells. Two, three or more different fluorophores are used to detect the genetic barcode sections thus permitting unique labeling and multilocus analysis in individual cell nuclei. Gene specific barcodes can be generated and combined to provide both numerical and structural genetic information for these and other pertinent disease associated genes.

  5. Flight Performance and Teneral Energy Reserves of Two Genetically-Modified and One Wild-Type Strain of the Yellow Fever Mosquito Aedes aegypti

    PubMed Central

    Kaufmann, Christian; Alphey, Luke; Reiter, Paul; Koella, Jacob

    2012-01-01

    Abstract The ability of sterile males to survive, disperse, find, and mate with wild females is key to the success of sterile insect technique (SIT). The Release of Insects carrying a Dominant Lethal (RIDL) system is a genetics-based SIT strategy for Aedes aegypti. We examine two aspects of insect performance, flight potential (dispersal ability) and teneral energy reserves, by comparing wild-type (WT) males with genetically-modified lines carrying the tetracycline-repressible constructs OX513A and OX3604C. Our results show significant differences in the flight capacity of the modified lines. OX513A males bred with tetracycline covered 38% less distance, while OX3604C males reared without tetracycline spent 21% less time in flight than their WT counterparts. Such differences in flight performance should be considered when designing release programs (e.g., by placing release sites sufficiently close together to achieve adequate coverage). All mosquito lines had similar teneral carbohydrate contents, though males of the OX3604C line contained more lipids. The addition of tetracycline to the larval diet did not influence the flight potential of the males; however, it did change the teneral sugar reserves of the WT and the lipid reserves of both the WT and the OX3604C lines. PMID:22835152

  6. [Genetics of idiopathic epilepsies].

    PubMed

    Weber, Y G; Lerche, H

    2013-02-01

    Idiopathic epilepsies are genetically determined. They are characterized by the observed seizure types, an age-dependent onset, electroencephalographic criteria and concomitant symptoms, such as movement disorders or developmental delay. The main subtypes are the idiopathic (i) generalized, (ii) the focal epilepsies including the benign syndromes of early childhood and (iii) the epileptic encephalopathies as well as the fever-associated syndromes. In recent years, an increasing number of mutations have been identified in genes encoding ion channels, proteins associated to the vesical synaptic cycle or proteins involved in energy metabolism. These mechanisms are pathophysiologically plausible as they influence neuronal excitability. The large number of genetic defects in epilepsy complicates the genetic diagnostic analysis but novel genetic methods are available covering all known genes at a reasonable price. The proof of a genetic defect leads to a definitive diagnosis, is important for the prognostic and genetic counselling and may influence therapeutic decisions in some cases, so that genetic diagnostic testing is becoming increasingly more important and meaningful in many cases in daily clinical practice. PMID:23392265

  7. Finding the minimum-energy atomic configuration in large multi-atom structures: Genetic Algorithm versus the Virtual-Atom Approach

    NASA Astrophysics Data System (ADS)

    D'Avezac, Mayeul; Zunger, Alex

    2007-03-01

    In many problems in molecular and solid state structures one needs to determine the energy-minimizing decoration of sites by different atom-types (i. e.configuration). The sheer size of this configurational space can be horrendous even if the underlying lattice-type is known. The ab-initio total-energy surface for different (relaxed) configurations can often be parameterized by a spin-like Hamiltonian (Cluster-Expansion) with discrete spin -variables denoting the type of atom occupying each site. We compare two search strategies for the energy-minimizing configuration: (i) A discrete-variable genetic-algorithm approach( S. V. Dudiy and A. Zunger, PRL 97, 046401 (2006) ) and (ii) a continuous-variable approach (M. Wang et al, J. Am. Chem. Soc. 128, 3228 (2006) ) where the discrete-spin functional is mapped onto a continuous-spin functional (virtual atoms) and the search is guided by local gradients with respect to each spin. We compare their efficiency at locating the ground-state configurations of fcc Au-Pd Alloy in terms of number of calls to the functional. We show that a GA approach with diversity-enhancing constraints and reciprocal-space mating easily outperforms the VA approach.

  8. Genetic Engineering

    ERIC Educational Resources Information Center

    Phillips, John

    1973-01-01

    Presents a review of genetic engineering, in which the genotypes of plants and animals (including human genotypes) may be manipulated for the benefit of the human species. Discusses associated problems and solutions and provides an extensive bibliography of literature relating to genetic engineering. (JR)

  9. Genetic Variability in Energy Balance and Pancreatic Cancer Risk in a Population-Based Case-Control Study in Minnesota

    PubMed Central

    Zhang, Jianjun; Dhakal, Ishwori B.; Zhang, Xuemei; Prizment, Anna E.; Anderson, Kristin E.

    2013-01-01

    Objectives Accumulating evidence suggests that energy imbalance plays a role in pancreatic carcinogenesis. However, it remains unclear whether single nucleotide polymorphisms (SNPs) in genes regulating energy homeostasis influence pancreatic cancer risk. We investigated this question in a case-control study conducted from 1994 to 1998. Methods Cases (n=173) were ascertained from hospitals in the Twin Cities and Mayo Clinic, Minnesota. Controls (n=476) were identified from the general population and frequency matched to cases by age and sex. Seven SNPs were evaluated in relation to pancreatic cancer using unconditional logistic regression. Results After adjustment for confounders, the leucine/proline or proline/proline genotype of the neuropeptide Y (NPY) gene rs16139 was associated with a lower risk than the leucine/leucine genotype [odds ratio (OR) (95% confidence interval) (95% CI): 0.40 (0.15, 0.91)]. Conversely, an increased risk was observed for the glycine/arginine or arginine/arginine genotype of the adrenoceptor beta 2, surface (ADRB2) gene rs1042713 as compared with the glycine/glycine genotype [OR (95% CI): 1.52 (1.01, 2.31)]. Conclusions This study first reveals that SNPs in genes modulating energy intake (NPY) and energy expenditure (ADRB2) altered pancreatic cancer risk. If confirmed by other studies, our findings may shed new light on the etiology and prevention of pancreatic cancer. PMID:24201779

  10. Sorghum Mutant Library as a Genetic Resource to Improve Biomass Yield and BioEnergy Conversion Efficiency

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Due to the dwindling of mineral energy resources and soaring fuel price, agriculture sector is called to provide bioenergy in addition to the traditional role of providing humanity with food, fiber, and feed. Freshwater is likely a major challenge for developing biofuels because the trend of global ...

  11. Genetic counseling.

    PubMed

    Fraser, F C

    1974-09-01

    A workshop was sponsored by the National Genetics Foundation to evaluate and make recommendations about the status of genetic counseling, its goals, nature, achievements, and needs. The process of genetic workup and counseling is divided into 5 stages: validation of the diagnosis; obtaining family history; estimation of the risk of recurrence; helping the family make a decision and take appropriate action; and extending counseling to other members of the family. Counseling can be directed at individuals or at special groups with the potential of carrying such diseases as sickle cell amenia or Tay-Sachs. No consensus exists on an optimal counseling approach. Genetic counseling is regarded as a team effort, requiring, in addition to the counselor, laboratory facilities and a variety of specialists. The source of payment for genetic counseling services is regarded as a problem of increasing concern. Generally, the fee paid rarely covers the cost of the many procedures and it is suggested that the cost, like that of other public health services, should be subsidized by the state. Considerable argument exists over whether a genetic counselor must have a M.D. degree or whether a Ph. D. in medical genetics is suitable enough. The quality of much genetic counseling, which is often done in the office of doctors unskilled in the field, would be increased if better training in genetics were offered to medical students and if physicians were informed of the existence of counseling centers. Further, there is a growing feeling that some sort of accreditation of genetic counselors is desirable. PMID:4609197

  12. Development of a genetic algorithm optimisation tool for the early stage design of low and net-Zero Energy Solar Homes

    NASA Astrophysics Data System (ADS)

    Charron, Remi

    Homes that utilise solar thermal and solar photovoltaic (PV) technologies to generate as much energy as they consume in a year are referred to as net-Zero Energy Solar Homes (ZESH). This thesis presents the methodology used to develop a Genetic Algorithm (GA) Optimisation Tool that finds optimal configurations of low and net-zero energy solar homes taking into consideration effects from the use of different technologies, local climate, economics, and other factors. The tool links a low energy solar home model developed in TRNSYS with a GA optimisation program that automates the search for cost-effective building designs. The tool varies a predefined set of parameters including building width to length ratio, heating system type, solar thermal collector type and size, and more. The results from the TRNSYS model are compared with monitored data of an energy efficient house to verify that the model was correctly implemented. A total of 40 test cases were evaluated with the tool in order to verify the effects of climate, energy consumption target, control strategy, utility price structures, and other factors, to examine their impact on the resulting optimal design configurations. The GA program was capable of finding designs that were on average within 0.5% of the best known solution with the evaluation of only 0.00012% of the solution space. Results indicated that homes could be built with near equivalent monthly costs of conventional homes, while reducing the annual net-energy consumption by an order of magnitude. A reduction in PV system costs or the introduction of appropriate feed-in-tariffs had significant impacts on the overall cost-effectiveness of ZESH. The thesis clearly demonstrated the extent to which local climate, economic factors, and specific design constraints can have a major impact on the optimal design configuration, which limits the usefulness of generic design guidelines. The methodology developed was also a novel way of using TRNSYS for the

  13. Genetic Discrimination

    MedlinePlus

    ... Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care ... genetic discrimination. April 25, 2007, Statement of Administration Policy, Office of Management and Budget Official Statement from the Office of ...

  14. RNA genetics

    SciTech Connect

    Domingo, E. ); Holland, J.J. . Dept. of Biology); Ahlquist, P. . Dept. of Plant Pathology)

    1988-01-01

    This book contains the proceedings on RNA genetics: Retroviruses, Viroids, and RNA recombination, Volume 2. Topics covered include: Replication of retrovirus genomes, Hepatitis B virus replication, and Evolution of RNA viruses.

  15. Arthropod Genetics.

    ERIC Educational Resources Information Center

    Zumwalde, Sharon

    2000-01-01

    Introduces an activity on arthropod genetics that involves phenotype and genotype identification of the creature and the construction process. Includes a list of required materials and directions to build a model arthropod. (YDS)

  16. Genetic Screening

    PubMed Central

    Burke, Wylie; Tarini, Beth; Press, Nancy A.; Evans, James P.

    2011-01-01

    Current approaches to genetic screening include newborn screening to identify infants who would benefit from early treatment, reproductive genetic screening to assist reproductive decision making, and family history assessment to identify individuals who would benefit from additional prevention measures. Although the traditional goal of screening is to identify early disease or risk in order to implement preventive therapy, genetic screening has always included an atypical element—information relevant to reproductive decisions. New technologies offer increasingly comprehensive identification of genetic conditions and susceptibilities. Tests based on these technologies are generating a different approach to screening that seeks to inform individuals about all of their genetic traits and susceptibilities for purposes that incorporate rapid diagnosis, family planning, and expediting of research, as well as the traditional screening goal of improving prevention. Use of these tests in population screening will increase the challenges already encountered in genetic screening programs, including false-positive and ambiguous test results, overdiagnosis, and incidental findings. Whether this approach is desirable requires further empiric research, but it also requires careful deliberation on the part of all concerned, including genomic researchers, clinicians, public health officials, health care payers, and especially those who will be the recipients of this novel screening approach. PMID:21709145

  17. The ability of genetically lean or fat slow-growing chickens to synthesize and store lipids is not altered by the dietary energy source.

    PubMed

    Baéza, E; Gondret, F; Chartrin, P; Le Bihan-Duval, E; Berri, C; Gabriel, I; Narcy, A; Lessire, M; Métayer-Coustard, S; Collin, A; Jégou, M; Lagarrigue, S; Duclos, M J

    2015-10-01

    The increasing use of unconventional feedstuffs in chicken's diets results in the substitution of starch by lipids as the main dietary energy source. To evaluate the responses of genetically fat or lean chickens to these diets, males of two experimental lines divergently selected for abdominal fat content were fed isocaloric, isonitrogenous diets with either high lipid (80 g/kg), high fiber (64 g/kg) contents (HL), or low lipid (20 g/kg), low fiber (21 g/kg) contents (LL) from 22 to 63 days of age. The diet had no effect on growth performance and did not affect body composition evaluated at 63 days of age. Glycolytic and oxidative energy metabolisms in the liver and glycogen storage in liver and Sartorius muscle at 63 days of age were greater in chicken fed LL diet compared with chicken fed HL diet. In Pectoralis major (PM) muscle, energy metabolisms and glycogen content were not different between diets. There were no dietary-associated differences in lipid contents of the liver, muscles and abdominal fat. However, the percentages of saturated (SFA) and monounsaturated fatty acids (MUFA) in tissue lipids were generally higher, whereas percentages of polyunsaturated fatty acids (PUFA) were lower for diet LL than for diet HL. The fat line had a greater feed intake and average daily gain, but gain to feed ratio was lower in that line compared with the lean line. Fat chickens were heavier than lean chickens at 63 days of age. Their carcass fatness was higher and their muscle yield was lower than those of lean chickens. The oxidative enzyme activities in the liver were lower in the fat line than in the lean line, but line did not affect energy metabolism in muscles. The hepatic glycogen content was not different between lines, whereas glycogen content and glycolytic potential were higher in the PM muscle of fat chickens compared with lean chickens. Lipid contents in the liver, muscles and abdominal fat did not differ between lines, but fat chickens stored less MUFA and

  18. Genetic screening

    PubMed Central

    Andermann, Anne; Blancquaert, Ingeborg

    2010-01-01

    Abstract OBJECTIVE To provide a primer for primary care professionals who are increasingly called upon to discuss the growing number of genetic screening services available and to help patients make informed decisions about whether to participate in genetic screening, how to interpret results, and which interventions are most appropriate. QUALITY OF EVIDENCE As part of a larger research program, a wide literature relating to genetic screening was reviewed. PubMed and Internet searches were conducted using broad search terms. Effort was also made to identify the gray literature. MAIN MESSAGE Genetic screening is a type of public health program that is systematically offered to a specified population of asymptomatic individuals with the aim of providing those identified as high risk with prevention, early treatment, or reproductive options. Ensuring an added benefit from screening, as compared with standard clinical care, and preventing unintended harms, such as undue anxiety or stigmatization, depends on the design and implementation of screening programs, including the recruitment methods, education and counseling provided, timing of screening, predictive value of tests, interventions available, and presence of oversight mechanisms and safeguards. There is therefore growing apprehension that economic interests might lead to a market-driven approach to introducing and expanding screening before program effectiveness, acceptability, and feasibility have been demonstrated. As with any medical intervention, there is a moral imperative for genetic screening to do more good than harm, not only from the perspective of individuals and families, but also for the target population and society as a whole. CONCLUSION Primary care professionals have an important role to play in helping their patients navigate the rapidly changing terrain of genetic screening services by informing them about the benefits and risks of new genetic and genomic technologies and empowering them to

  19. Specific Genetic Disorders

    MedlinePlus

    ... of Genetic Terms Definitions for genetic terms Specific Genetic Disorders Many human diseases have a genetic component. ... Condition in an Adult The Undiagnosed Diseases Program Genetic Disorders Achondroplasia Alpha-1 Antitrypsin Deficiency Antiphospholipid Syndrome ...

  20. Geneletter: An Internet-based newsletter on the ethical, legal, and social implications of genetics. Final report to the Department of Energy [Final report

    SciTech Connect

    Reilly, Philip; Wertz, Dorothy C.

    2001-05-01

    The GeneLetter (http://www.geneletter.org) is an Internet newsletter on ethical, legal, and social issues in genetics, designed for a wide and varied audience, some of whom may not be familiar with genetic science. It appears every two months, with a variety of long and short feature articles on ethics and on genetic disorders, a section on new federal and state legislation, an international section, a student corner, book and video reviews, a summary of genetics in the news, and a list of upcoming conferences. Feature articles have ventured into an area of wide general concern, behavioral genetics. The newsletter also has an interactive chatbox and the opportunity of more private communications with the editors via email. The purpose of the GeneLetter is to help fill a communication and knowledge gap on ethical, legal and social issues surrounding genetics.

  1. Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism

    PubMed Central

    Valencia, C. Alexander; Wang, Xinjian; Wang, Jin; Peters, Anna; Simmons, Julia R.; Moran, Molly C.; Mathur, Abhinav; Husami, Ammar; Qian, Yaping; Sheridan, Rachel; Bove, Kevin E.; Witte, David; Huang, Taosheng; Miethke, Alexander G.

    2016-01-01

    Background & Aims The etiology of acute liver failure (ALF) remains elusive in almost half of affected children. We hypothesized that inherited mitochondrial and fatty acid oxidation disorders were occult etiological factors in patients with idiopathic ALF and impaired energy metabolism. Methods Twelve patients with elevated blood molar lactate/pyruvate ratio and indeterminate etiology were selected from a retrospective cohort of 74 subjects with ALF because their fixed and frozen liver samples were available for histological, ultrastructural, molecular and biochemical analysis. Results A customized next-generation sequencing panel for 26 genes associated with mitochondrial and fatty acid oxidation defects revealed mutations and sequence variants in five subjects. Variants involved the genes ACAD9, POLG, POLG2, DGUOK, and RRM2B; the latter not previously reported in subjects with ALF. The explanted livers of the patients with heterozygous, truncating insertion mutations in RRM2B showed patchy micro- and macrovesicular steatosis, decreased mitochondrial DNA (mtDNA) content <30% of controls, and reduced respiratory chain complex activity; both patients had good post-transplant outcome. One infant with severe lactic acidosis was found to carry two heterozygous variants in ACAD9, which was associated with isolated complex I deficiency and diffuse hypergranular hepatocytes. The two subjects with heterozygous variants of unknown clinical significance in POLG and DGUOK developed ALF following drug exposure. Their hepatocytes displayed abnormal mitochondria by electron microscopy. Conclusion Targeted next generation sequencing and correlation with histological, ultrastructural and functional studies on liver tissue in children with elevated lactate/pyruvate ratio expand the spectrum of genes associated with pediatric ALF. PMID:27483465

  2. Genetic Susceptibility to Lymphoma

    PubMed Central

    Skibola, Christine F.; Curry, John D.; Nieters, Alexandra

    2010-01-01

    BACKGROUND Genetic susceptibility studies of lymphoma may serve to identify at risk populations and to elucidate important disease mechanisms. METHODS This review considered all studies published through October 2006 on the contribution of genetic polymorphisms in the risk of lymphoma. RESULTS Numerous studies implicate the role of genetic variants that promote B-cell survival and growth with increased risk of lymphoma. Several reports including a large pooled study by InterLymph, an international consortium of non-Hodgkin lymphoma (NHL) case-control studies, found positive associations between variant alleles in TNF -308G>A and IL10 -3575T>A genes and risk of diffuse large B-cell lymphoma. Four studies reported positive associations between a GSTT1 deletion and risk of Hodgkin and non-Hodgkin lymphoma. Genetic studies of folate-metabolizing genes implicate folate in NHL risk, but further studies that include folate and alcohol assessments are needed. Links between NHL and genes involved in energy regulation and hormone production and metabolism may provide insights into novel mechanisms implicating neuro- and endocrine-immune cross-talk with lymphomagenesis, but will need replication in larger populations. CONCLUSIONS Numerous studies suggest that common genetic variants with low penetrance influence lymphoma risk, though replication studies will be needed to eliminate false positive associations. PMID:17606447

  3. Genetic Disorders

    MedlinePlus

    ... of pregnancy loss. How do I know which tests to have? Your health care provider or a genetic counselor can discuss all of the testing options with you and help you decide based on your individual risk factors. Do I have to have these tests? Whether you want to be tested is a ...

  4. Genetic Recombination

    ERIC Educational Resources Information Center

    Whitehouse, H. L. K.

    1973-01-01

    Discusses the mechanisms of genetic recombination with particular emphasis on the study of the fungus Sordaria brevicollis. The study of recombination is facilitated by the use of mutants of this fungus in which the color of the ascospores is affected. (JR)

  5. Cancer Genetics Services Directory

    MedlinePlus

    ... Overview–for health professionals Research NCI Cancer Genetics Services Directory This directory lists professionals who provide services related to cancer genetics (cancer risk assessment, genetic ...

  6. A Novel Wireless Power Transfer-Based Weighed Clustering Cooperative Spectrum Sensing Method for Cognitive Sensor Networks

    PubMed Central

    Liu, Xin

    2015-01-01

    In a cognitive sensor network (CSN), the wastage of sensing time and energy is a challenge to cooperative spectrum sensing, when the number of cooperative cognitive nodes (CNs) becomes very large. In this paper, a novel wireless power transfer (WPT)-based weighed clustering cooperative spectrum sensing model is proposed, which divides all the CNs into several clusters, and then selects the most favorable CNs as the cluster heads and allows the common CNs to transfer the received radio frequency (RF) energy of the primary node (PN) to the cluster heads, in order to supply the electrical energy needed for sensing and cooperation. A joint resource optimization is formulated to maximize the spectrum access probability of the CSN, through jointly allocating sensing time and clustering number. According to the resource optimization results, a clustering algorithm is proposed. The simulation results have shown that compared to the traditional model, the cluster heads of the proposed model can achieve more transmission power and there exists optimal sensing time and clustering number to maximize the spectrum access probability. PMID:26528987

  7. A Novel Wireless Power Transfer-Based Weighed Clustering Cooperative Spectrum Sensing Method for Cognitive Sensor Networks.

    PubMed

    Liu, Xin

    2015-01-01

    In a cognitive sensor network (CSN), the wastage of sensing time and energy is a challenge to cooperative spectrum sensing, when the number of cooperative cognitive nodes (CNs) becomes very large. In this paper, a novel wireless power transfer (WPT)-based weighed clustering cooperative spectrum sensing model is proposed, which divides all the CNs into several clusters, and then selects the most favorable CNs as the cluster heads and allows the common CNs to transfer the received radio frequency (RF) energy of the primary node (PN) to the cluster heads, in order to supply the electrical energy needed for sensing and cooperation. A joint resource optimization is formulated to maximize the spectrum access probability of the CSN, through jointly allocating sensing time and clustering number. According to the resource optimization results, a clustering algorithm is proposed. The simulation results have shown that compared to the traditional model, the cluster heads of the proposed model can achieve more transmission power and there exists optimal sensing time and clustering number to maximize the spectrum access probability. PMID:26528987

  8. Human genetics

    SciTech Connect

    Carlson, E.A.

    1984-01-01

    This text provides full and balanced coverage of the concepts requisite for a thorough understanding of human genetics. Applications to both the individual and society are integrated throughout the lively and personal narrative, and the essential principles of heredity are clearly presented to prepare students for informed participation in public controversies. High-interest, controversial topics, including recombinant DNA technology, oncogenes, embryo transfer, environmental mutagens and carcinogens, IQ testing, and eugenics encourage understanding of important social issues.

  9. Genetically encoded ratiometric biosensors to measure intracellular exchangeable zinc in Escherichia coli

    NASA Astrophysics Data System (ADS)

    Wang, Da; Hurst, Tamiika K.; Thompson, Richard B.; Fierke, Carol A.

    2011-08-01

    Zinc is an essential element for numerous cellular processes, therefore zinc homeostasis is regulated in living organisms. Fluorescent sensors have been developed as important tools to monitor the concentrations of readily exchangeable zinc in live cells. One type of biosensor uses carbonic anhydrase (CA) as the recognition element based on its tunable affinity, superior metal selectivity, and fluorescence signal from aryl sulfonamide ligands coupled to zinc binding. Here, we fuse carbonic anhydrase with a red fluorescent protein to create a series of genetically-encoded Förster resonance energy transfer-based excitation ratiometric zinc sensors that exhibit large signal increases in response to alterations in physiological-free zinc concentrations. These sensors were applied to the prokaryotic model organism Escherichia coli to quantify the readily exchangeable zinc concentration. In minimal media, E. coli BL21(DE3) cells expressing the CA sensor, exhibit a median intracellular readily exchangeable zinc concentration of 20 pM, much less than the total cellular zinc concentration of ~0.2 mM. Furthermore, the intracellular readily exchangeable zinc concentration varies with the concentration of environmental zinc.

  10. Cancer Genetics Services Directory

    MedlinePlus

    ... Prevention Overview–for health professionals Research NCI Cancer Genetics Services Directory This directory lists professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, ...

  11. Genetic Testing (For Parents)

    MedlinePlus

    ... Story" 5 Things to Know About Zika & Pregnancy Genetic Testing KidsHealth > For Parents > Genetic Testing Print A ... blood, skin, bone, or other tissue is needed. Genetic Testing During Pregnancy For genetic testing before birth, ...

  12. Genetically engineered foods

    MedlinePlus

    ... plants or animals) inserted into their genetic codes. Genetic engineering can be done with plants, animals, or bacteria ... have been genetically engineering plants since the 1990s. Genetic engineering allows scientists to speed this process up by ...

  13. Energy.

    ERIC Educational Resources Information Center

    Online-Offline, 1998

    1998-01-01

    This issue focuses on the theme of "Energy," and describes several educational resources (Web sites, CD-ROMs and software, videos, books, activities, and other resources). Sidebars offer features on alternative energy, animal energy, internal combustion engines, and energy from food. Subthemes include harnessing energy, human energy, and natural…

  14. Measurement of Inositol 1,4,5-Trisphosphate in Living Cells Using an Improved Set of Resonance Energy Transfer-Based Biosensors

    PubMed Central

    Tóth, Dániel J.; Kurucz, István; Hunyady, László; Balla, Tamas; Várnai, Péter

    2015-01-01

    Improved versions of inositol-1,4,5-trisphosphate (InsP3) sensors were created to follow intracellular InsP3 changes in single living cells and in cell populations. Similar to previous InsP3 sensors the new sensors are based on the ligand binding domain of the human type-I InsP3 receptor (InsP3R-LBD), but contain a mutation of either R265K or R269K to lower their InsP3 binding affinity. Tagging the InsP3R-LBD with N-terminal Cerulean and C-terminal Venus allowed measurement of InsP3 in single-cell FRET experiments. Replacing Cerulean with a Luciferase enzyme allowed experiments in multi-cell format by measuring the change in the BRET signal upon stimulation. These sensors faithfully followed the agonist-induced increase in InsP3 concentration in HEK 293T cells expressing the Gq-coupled AT1 angiotensin receptor detecting a response to agonist concentration as low as 10 pmol/L. Compared to the wild type InsP3 sensor, the mutant sensors showed an improved off-rate, enabling a more rapid and complete return of the signal to the resting value of InsP3 after termination of M3 muscarinic receptor stimulation by atropine. For parallel measurements of intracellular InsP3 and Ca2+ levels in BRET experiments, the Cameleon D3 Ca2+ sensor was modified by replacing its CFP with luciferase. In these experiments depletion of plasma membrane PtdIns(4,5)P2 resulted in the fall of InsP3 level, followed by the decrease of the Ca2+-signal evoked by the stimulation of the AT1 receptor. In contrast, when type-III PI 4-kinases were inhibited with a high concentration of wortmannin or a more specific inhibitor, A1, the decrease of the Ca2+-signal preceded the fall of InsP3 level indicating an InsP3-, independent, direct regulation of capacitative Ca2+ influx by plasma membrane inositol lipids. Taken together, our results indicate that the improved InsP3 sensor can be used to monitor both the increase and decrease of InsP3 levels in live cells suitable for high-throughput BRET applications. PMID:25932648

  15. Genetic risks and genetic model specification.

    PubMed

    Zheng, Gang; Zhang, Wei; Xu, Jinfeng; Yuan, Ao; Li, Qizhai; Gastwirth, Joseph L

    2016-08-21

    Genetic risks and genetic models are often used in design and analysis of genetic epidemiology studies. A genetic model is defined in terms of two genetic risk measures: genotype relative risk and odds ratio. The impacts of choosing a risk measure on the resulting genetic models are studied in the power to detect association and deviation from Hardy-Weinberg equilibrium in cases using genetic relative risk. Extensive simulations demonstrate that the power of a study to detect associations using odds ratio is lower than that using relative risk with the same value when other parameters are fixed. When the Hardy-Weinberg equilibrium holds in the general population, the genetic model can be inferred by the deviation from Hardy-Weinberg equilibrium in only cases. Furthermore, it is more efficient than that based on the deviation from Hardy-Weinberg equilibrium in all cases and controls. PMID:27181372

  16. Medical genetics and genetic counseling in Chile.

    PubMed

    Margarit, Sonia B; Alvarado, Mónica; Alvarez, Karin; Lay-Son, Guillermo

    2013-12-01

    In the South American Republic of Chile genetic counseling is not currently recognized as an independent clinical discipline, and in general is provided by physicians with training in clinical genetics. At present only one genetic counselor and 28 clinical geneticists practice in this country of over 16 million inhabitants. Pediatric dysmorphology constitutes the primary area of practice in clinical genetics. Although the country has a universal health care system and an adequate level of health care, genetic conditions are not considered a health care priority and there is a lack of clinical and laboratory resources designated for clinical genetics services. Multiple educational, cultural and financial barriers exist to the growth and development of genetic counseling services in Chile. However, during the last 10 years increased awareness of the importance of identifying individuals at risk for inherited cancer syndromes led to growing interest in the practice of cancer genetics. PMID:23744184

  17. Applying the New Genetics

    ERIC Educational Resources Information Center

    Sorenson, James

    1976-01-01

    New developments in the prediction and treatment of genetic diseases are presented. Genetic counseling and the role of the counselor, and rights of individuals to reproduce versus societal impact of genetic disorders, are discussed. (RW)

  18. Genetic Differences in Intelligence

    ERIC Educational Resources Information Center

    Intellect, 1977

    1977-01-01

    The Genetics Society of America has released a statement saying that the possibility of a "genetic difference in intelligence between races" is still an open question and warning against "the misuse of genetics for political purposes". (Editor)

  19. Genetic Testing for ALS

    MedlinePlus

    ... Involved Donate Familial Amyotrophic Lateral Sclerosis (FALS) and Genetic Testing By Deborah Hartzfeld, MS, CGC, Certified Genetic ... guarantee a person will develop symptoms of ALS. Genetic Counseling If there is more than one person ...

  20. Genetic mapping and DNA sequencing

    SciTech Connect

    Speed, T.; Waterman, M.S.

    1996-12-31

    The Human Genome Initiative has as its primary objective the characterization of the human genome. High-resolution linkage maps of genetic markers will play an important role in completing the human genome project. This is one of two volumes based on the proceedings of the 1994 IMA Summer Program on Molecular Biology and comprises Weeks 1 and 2 of the four-week program. This volume focuses on genetic mapping and DNA sequencing. Selected papers are indexed separately for inclusion in the Energy Science and Technology Database.

  1. Interactive Genetics Tutorial Project.

    ERIC Educational Resources Information Center

    Wisconsin Univ., Madison. Dept. of Curriculum and Instruction.

    The Interactive Genetics Tutorial (IGT) project and the Intelligent Tutoring System for the IGT project named MENDEL supplement genetics instruction in biology courses by providing students with experience in designing, conducting, and evaluating genetics experiments. The MENDEL software is designed to: (1) simulate genetics experiments that…

  2. The Genetics of Immunity

    PubMed Central

    Lazzaro, Brian P.; Schneider, David S.

    2014-01-01

    In this commentary, Brian P. Lazzaro and David S. Schneider examine the topic of the Genetics of Immunity as explored in this month's issues of GENETICS and G3: Genes|Genomes|Genetics. These inaugural articles are part of a joint Genetics of Immunity collection (ongoing) in the GSA journals. PMID:24939182

  3. Update: Biochemistry of Genetic Manipulation.

    ERIC Educational Resources Information Center

    Barker, G. R.

    1983-01-01

    Various topics on the biochemistry of genetic manipulation are discussed. These include genetic transformation and DNA; genetic expression; DNA replication, repair, and mutation; technology of genetic manipulation; and applications of genetic manipulation. Other techniques employed are also considered. (JN)

  4. How Are Genetic Conditions Diagnosed?

    MedlinePlus

    ... Consultation How are genetic conditions diagnosed? How are genetic conditions diagnosed? A doctor may suspect a diagnosis ... and advocacy resources. For more information about diagnosing genetic conditions: Genetics Home Reference provides information about genetic ...

  5. Genetics of obesity

    PubMed Central

    O'Rahilly, Stephen; Farooqi, I.Sadaf

    2006-01-01

    Considerable attention is currently being paid to the secular changes in food intake and physical activity that underlie the increase in the prevalence of obesity that is apparent in many societies. While this is laudable it would be unwise to view these environmental factors in isolation from the biological factors that normally control body weight and composition and the compelling evidence that inter-individual differences in susceptibility to obesity have strong genetic determinants. This is particularly important, as it is only in the past decade that we have begun to obtain substantive information regarding the molecular constituents of pathways controlling mammalian energy balance and therefore, for the first time, are in a position to achieve a better mechanistic understanding of this disease. Population-based association and linkage studies have highlighted a number of loci at which genetic variation is associated with obesity and related phenotypes and the identification and characterization of monogenic obesity syndromes has been particularly fruitful. While there is widespread acceptance that hereditary factors might predispose to human obesity, it is frequently assumed that such factors would influence metabolic rate or the selective partitioning of excess calories into fat. However, it is notable that, thus far, all monogenic defects causing human obesity actually disrupt hypothalamic pathways and have a profound effect on satiety and food intake. To conclude, the evidence we have to date suggests that the major impact of genes on human obesity is just as likely (or perhaps more likely) to directly impact on hunger, satiety and food intake rather than metabolic rate or nutrient partitioning. At the risk of oversimplification, it seems that from an aetiological/genetic standpoint, human obesity appears less a metabolic than a neuro-behavioural disease. PMID:16815794

  6. Energy.

    PubMed

    Chambers, David W

    2012-01-01

    Energy is the capacity to do the things we are capable of and desire to accomplish. Most often this is thought of in terms of PEP--personal energy potential--a reservoir of individual vivacity and zest for work. Like a battery, energy can be conceived of as a resource that is alternatively used and replenished. Transitions between activities, variety of tasks, and choices of what to spend energy on are part of energy management. Energy capacity can be thought of at four levels: (a) so little that harm is caused and extraordinary steps are needed for recovery, (b) a deficit that slightly impairs performance but will recover naturally, (c) the typical range of functioning, and (d) a surplus that may or may not be useful and requires continual investment to maintain. "Flow" is the experience of optimal energy use when challenges balance capacity as a result of imposing order on our environment. There are other energy resources in addition to personal vim. Effective work design reduces demands on energy. Money, office design, and knowledge are excellent substitutes for personal energy. PMID:22856055

  7. Global genetic analysis.

    PubMed

    Elahi, Elahe; Kumm, Jochen; Ronaghi, Mostafa

    2004-01-31

    The introduction of molecular markers in genetic analysis has revolutionized medicine. These molecular markers are genetic variations associated with a predisposition to common diseases and individual variations in drug responses. Identification and genotyping a vast number of genetic polymorphisms in large populations are increasingly important for disease gene identification, pharmacogenetics and population-based studies. Among variations being analyzed, single nucleotide polymorphisms seem to be most useful in large-scale genetic analysis. This review discusses approaches for genetic analysis, use of different markers, and emerging technologies for large-scale genetic analysis where millions of genotyping need to be performed. PMID:14761299

  8. Identification of genetic networks.

    PubMed Central

    Xiong, Momiao; Li, Jun; Fang, Xiangzhong

    2004-01-01

    In this report, we propose the use of structural equations as a tool for identifying and modeling genetic networks and genetic algorithms for searching the most likely genetic networks that best fit the data. After genetic networks are identified, it is fundamental to identify those networks influencing cell phenotypes. To accomplish this task we extend the concept of differential expression of the genes, widely used in gene expression data analysis, to genetic networks. We propose a definition for the differential expression of a genetic network and use the generalized T2 statistic to measure the ability of genetic networks to distinguish different phenotypes. However, describing the differential expression of genetic networks is not enough for understanding biological systems because differences in the expression of genetic networks do not directly reflect regulatory strength between gene activities. Therefore, in this report we also introduce the concept of differentially regulated genetic networks, which has the potential to assess changes of gene regulation in response to perturbation in the environment and may provide new insights into the mechanism of diseases and biological processes. We propose five novel statistics to measure the differences in regulation of genetic networks. To illustrate the concepts and methods for reconstruction of genetic networks and identification of association of genetic networks with function, we applied the proposed models and algorithms to three data sets. PMID:15020486

  9. Genetics Home Reference: porphyria

    MedlinePlus

    ... of iron in the liver, alcohol consumption, smoking, hepatitis C or HIV infection, or certain hormones. Mutations in ... Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are genetic conditions ...

  10. Genetic Disease Foundation

    MedlinePlus

    ... Newly Diagnosed Patients There are over 6,000 genetic disorders that can be passed down through the ... mission to help prevent, manage and treat inherited genetic diseases. View our latest News Brief here . You ...

  11. Genetics Home Reference

    MedlinePlus

    Skip Navigation Bar Home Current Issue Past Issues Genetics Home Reference Past Issues / Spring 2007 Table of ... of this page please turn Javascript on. The Genetics Home Reference (GHR) Web site — ghr.nlm.nih. ...

  12. Genetics Home Reference: retinoblastoma

    MedlinePlus

    ... Arias VE. Trilateral retinoblastoma. Pediatr Blood Cancer. 2007 Mar;48(3):306-10. Review. Citation on PubMed ... for genetic counseling. Am J Hum Genet. 1998 Mar;62(3):610-9. Citation on PubMed or ...

  13. Frontotemporal Dementia: Genetics

    MedlinePlus

    ... Calendar of Events Fundraising Events Conferences Press Releases Genetics of FTD After receiving a diagnosis of FTD ... that recent advances in science have brought the genetics of FTD into much better focus. In 2012, ...

  14. Genetics of Hearing Loss

    MedlinePlus

    ... in Latin America Information For... Media Policy Makers Genetics of Hearing Loss Language: English Español (Spanish) Recommend ... of hearing loss in babies is due to genetic causes. There are also a number of things ...

  15. Genetic Brain Disorders

    MedlinePlus

    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form ... mutation is a change in a gene. Genetic brain disorders affect the development and function of the ...

  16. Genetics Home Reference: adermatoglyphia

    MedlinePlus

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions adermatoglyphia adermatoglyphia Enable Javascript to ...

  17. Genetics Home Reference: microphthalmia

    MedlinePlus

    ... including clouding of the lens of the eye ( cataract ) and a narrowed opening of the eye (narrowed ... GeneReview: Microphthalmia/Anophthalmia/Coloboma Spectrum Genetic Testing Registry: Cataract, congenital, with microphthalmia Genetic Testing Registry: Cataract, microphthalmia ...

  18. Latest Research: Genetic Links

    MedlinePlus

    ... Current Issue Past Issues Feature: Vision Latest Research: Genetic Links Past Issues / Summer 2008 Table of Contents ... laboratories is one way the NEI is expanding genetic testing of eye diseases. Photo courtesy of National ...

  19. Genetic Diversity and Genome Complexity of Sugarcane

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Sugarcane (Saccharum spp.) as a C4 plant, is one of the most efficient crops in converting solar energy into chemical energy. Sugarcane cultivar improvement programs have not yet systematically utilized the most of the genetic sources of yield potential and resistance to stresses that may exist in t...

  20. Behavioral genetics and taste

    PubMed Central

    Boughter, John D; Bachmanov, Alexander A

    2007-01-01

    This review focuses on behavioral genetic studies of sweet, umami, bitter and salt taste responses in mammals. Studies involving mouse inbred strain comparisons and genetic analyses, and their impact on elucidation of taste receptors and transduction mechanisms are discussed. Finally, the effect of genetic variation in taste responsiveness on complex traits such as drug intake is considered. Recent advances in development of genomic resources make behavioral genetics a powerful approach for understanding mechanisms of taste. PMID:17903279

  1. Genetics in psychiatry

    PubMed Central

    Umesh, Shreekantiah; Nizamie, Shamshul Haque

    2014-01-01

    Today, psychiatrists are focusing on genetics aspects of various psychiatric disorders not only for a future classification of psychiatric disorders but also a notion that genetics would aid in the development of new medications to treat these disabling illnesses. This review therefore emphasizes on the basics of genetics in psychiatry as well as focuses on the emerging picture of genetics in psychiatry and their future implications. PMID:25400339

  2. Introductory molecular genetics

    SciTech Connect

    Edwards-Moulds, J.

    1986-01-01

    This book begins with an overview of the current principles of genetics and molecular genetics. Over this foundation, it adds detailed and specialized information: a description of the translation, transcription, expression and regulation of DNA and RNA; a description of the manipulation of genetic material via promoters, enhancers, and gene splicing; and a description of cloning techniques, especially those for blood group genes. The last chapter looks to the impact of molecular genetics on transfusion medicine.

  3. Genetic algorithms and supernovae type Ia analysis

    SciTech Connect

    Bogdanos, Charalampos; Nesseris, Savvas E-mail: nesseris@nbi.dk

    2009-05-15

    We introduce genetic algorithms as a means to analyze supernovae type Ia data and extract model-independent constraints on the evolution of the Dark Energy equation of state w(z) {identical_to} P{sub DE}/{rho}{sub DE}. Specifically, we will give a brief introduction to the genetic algorithms along with some simple examples to illustrate their advantages and finally we will apply them to the supernovae type Ia data. We find that genetic algorithms can lead to results in line with already established parametric and non-parametric reconstruction methods and could be used as a complementary way of treating SNIa data. As a non-parametric method, genetic algorithms provide a model-independent way to analyze data and can minimize bias due to premature choice of a dark energy model.

  4. Phenylketonuria Genetic Screening Simulation

    ERIC Educational Resources Information Center

    Erickson, Patti

    2012-01-01

    After agreeing to host over 200 students on a daylong genetics field trip, the author needed an easy-to-prepare genetics experiment to accompany the DNA-necklace and gel-electrophoresis activities already planned. One of the student's mothers is a pediatric physician at the local hospital, and she suggested exploring genetic-disease screening…

  5. Genetics by the Numbers

    MedlinePlus

    ... Life Science > Genetics by the Numbers Inside Life Science View All Articles | Inside Life Science Home Page Genetics by the Numbers By Chelsea ... Genetics NIH's National DNA Day This Inside Life Science article also appears on LiveScience . Learn about related ...

  6. The genetic difference principle.

    PubMed

    Farrelly, Colin

    2004-01-01

    In the newly emerging debates about genetics and justice three distinct principles have begun to emerge concerning what the distributive aim of genetic interventions should be. These principles are: genetic equality, a genetic decent minimum, and the genetic difference principle. In this paper, I examine the rationale of each of these principles and argue that genetic equality and a genetic decent minimum are ill-equipped to tackle what I call the currency problem and the problem of weight. The genetic difference principle is the most promising of the three principles and I develop this principle so that it takes seriously the concerns of just health care and distributive justice in general. Given the strains on public funds for other important social programmes, the costs of pursuing genetic interventions and the nature of genetic interventions, I conclude that a more lax interpretation of the genetic difference principle is appropriate. This interpretation stipulates that genetic inequalities should be arranged so that they are to the greatest reasonable benefit of the least advantaged. Such a proposal is consistent with prioritarianism and provides some practical guidance for non-ideal societies--that is, societies that do not have the endless amount of resources needed to satisfy every requirement of justice. PMID:15186680

  7. The Genetics of Personality.

    ERIC Educational Resources Information Center

    Holden, Constance

    1987-01-01

    Reports on the findings of several studies into the genetic similarities of twins. Focuses on the relationships between personality and behavioral genetics and argues that genetic similarity seems to be a better predictor than environmental factors. Discusses psychopathology, cognitive abilities, and personality. (TW)

  8. Statistics for Learning Genetics

    ERIC Educational Resources Information Center

    Charles, Abigail Sheena

    2012-01-01

    This study investigated the knowledge and skills that biology students may need to help them understand statistics/mathematics as it applies to genetics. The data are based on analyses of current representative genetics texts, practicing genetics professors' perspectives, and more directly, students' perceptions of, and performance in,…

  9. Feline Genetics: Clinical Applications and Genetic Testing

    PubMed Central

    Lyons, Leslie A.

    2010-01-01

    DNA testing for domestic cat diseases and appearance traits is a rapidly growing asset for veterinary medicine. Approximately thirty-three genes contain fifty mutations that cause feline health problems or alterations in the cat’s appearance. A variety of commercial laboratories can now perform cat genetic diagnostics, allowing both the veterinary clinician and the private owner to obtain DNA test results. DNA is easily obtained from a cat via a buccal swab using a standard cotton bud or cytological brush, allowing DNA samples to be easily sent to any laboratory in the world. The DNA test results identify carriers of the traits, predict the incidence of traits from breeding programs, and influence medical prognoses and treatments. An overall goal of identifying these genetic mutations is the correction of the defect via gene therapies and designer drug therapies. Thus, genetic testing is an effective preventative medicine and a potential ultimate cure. However, genetic diagnostic tests may still be novel for many veterinary practitioners and their application in the clinical setting needs to have the same scrutiny as any other diagnostic procedure. This article will review the genetic tests for the domestic cat, potential sources of error for genetic testing, and the pros and cons of DNA results in veterinary medicine. Highlighted are genetic tests specific to the individual cat, which are a part of the cat’s internal genome. PMID:21147473

  10. Feline genetics: clinical applications and genetic testing.

    PubMed

    Lyons, Leslie A

    2010-11-01

    DNA testing for domestic cat diseases and appearance traits is a rapidly growing asset for veterinary medicine. Approximately 33 genes contain 50 mutations that cause feline health problems or alterations in the cat's appearance. A variety of commercial laboratories can now perform cat genetic diagnostics, allowing both the veterinary clinician and the private owner to obtain DNA test results. DNA is easily obtained from a cat via a buccal swab with a standard cotton bud or cytological brush, allowing DNA samples to be easily sent to any laboratory in the world. The DNA test results identify carriers of the traits, predict the incidence of traits from breeding programs, and influence medical prognoses and treatments. An overall goal of identifying these genetic mutations is the correction of the defect via gene therapies and designer drug therapies. Thus, genetic testing is an effective preventative medicine and a potential ultimate cure. However, genetic diagnostic tests may still be novel for many veterinary practitioners and their application in the clinical setting needs to have the same scrutiny as any other diagnostic procedure. This article will review the genetic tests for the domestic cat, potential sources of error for genetic testing, and the pros and cons of DNA results in veterinary medicine. Highlighted are genetic tests specific to the individual cat, which are a part of the cat's internal genome. PMID:21147473

  11. How Is Genetic Testing Done?

    MedlinePlus

    ... Testing How is genetic testing done? How is genetic testing done? Once a person decides to proceed ... is called informed consent . For more information about genetic testing procedures: The Genetic Science Learning Center at ...

  12. Prenatal Genetic Counseling (For Parents)

    MedlinePlus

    ... 5 Things to Know About Zika & Pregnancy Prenatal Genetic Counseling KidsHealth > For Parents > Prenatal Genetic Counseling Print ... how can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating ...

  13. Genetic technology: Promises and problems

    NASA Technical Reports Server (NTRS)

    Frankel, M. S.

    1975-01-01

    Issues concerning the use of genetic technology are discussed. Some areas discussed include treating genetic disease, prenatal diagnosis and selective abortion, screening for genetic disease, and genetic counseling. Policy issues stemming from these capabilities are considered.

  14. Genetics of familial hypercholesterolemia.

    PubMed

    Brautbar, Ariel; Leary, Emili; Rasmussen, Kristen; Wilson, Don P; Steiner, Robert D; Virani, Salim

    2015-04-01

    Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein (LDL) cholesterol and premature cardiovascular disease, with a prevalence of approximately 1 in 200-500 for heterozygotes in North America and Europe. Monogenic FH is largely attributed to mutations in the LDLR, APOB, and PCSK9 genes. Differential diagnosis is critical to distinguish FH from conditions with phenotypically similar presentations to ensure appropriate therapeutic management and genetic counseling. Accurate diagnosis requires careful phenotyping based on clinical and biochemical presentation, validated by genetic testing. Recent investigations to discover additional genetic loci associated with extreme hypercholesterolemia using known FH families and population studies have met with limited success. Here, we provide a brief overview of the genetic determinants, differential diagnosis, genetic testing, and counseling of FH genetics. PMID:25712136

  15. Synthetic Genetic Arrays: Automation of Yeast Genetics.

    PubMed

    Kuzmin, Elena; Costanzo, Michael; Andrews, Brenda; Boone, Charles

    2016-01-01

    Genome-sequencing efforts have led to great strides in the annotation of protein-coding genes and other genomic elements. The current challenge is to understand the functional role of each gene and how genes work together to modulate cellular processes. Genetic interactions define phenotypic relationships between genes and reveal the functional organization of a cell. Synthetic genetic array (SGA) methodology automates yeast genetics and enables large-scale and systematic mapping of genetic interaction networks in the budding yeast,Saccharomyces cerevisiae SGA facilitates construction of an output array of double mutants from an input array of single mutants through a series of replica pinning steps. Subsequent analysis of genetic interactions from SGA-derived mutants relies on accurate quantification of colony size, which serves as a proxy for fitness. Since its development, SGA has given rise to a variety of other experimental approaches for functional profiling of the yeast genome and has been applied in a multitude of other contexts, such as genome-wide screens for synthetic dosage lethality and integration with high-content screening for systematic assessment of morphology defects. SGA-like strategies can also be implemented similarly in a number of other cell types and organisms, includingSchizosaccharomyces pombe,Escherichia coli, Caenorhabditis elegans, and human cancer cell lines. The genetic networks emerging from these studies not only generate functional wiring diagrams but may also play a key role in our understanding of the complex relationship between genotype and phenotype. PMID:27037078

  16. Genetic selection and conservation of genetic diversity*.

    PubMed

    Blackburn, H D

    2012-08-01

    For 100s of years, livestock producers have employed various types of selection to alter livestock populations. Current selection strategies are little different, except our technologies for selection have become more powerful. Genetic resources at the breed level have been in and out of favour over time. These resources are the raw materials used to manipulate populations, and therefore, they are critical to the past and future success of the livestock sector. With increasing ability to rapidly change genetic composition of livestock populations, the conservation of these genetic resources becomes more critical. Globally, awareness of the need to steward genetic resources has increased. A growing number of countries have embarked on large scale conservation efforts by using in situ, ex situ (gene banking), or both approaches. Gene banking efforts have substantially increased and data suggest that gene banks are successfully capturing genetic diversity for research or industry use. It is also noteworthy that both industry and the research community are utilizing gene bank holdings. As pressures grow to meet consumer demands and potential changes in production systems, the linkage between selection goals and genetic conservation will increase as a mechanism to facilitate continued livestock sector development. PMID:22827378

  17. Energy.

    ERIC Educational Resources Information Center

    Shanebrook, J. Richard

    This document describes a course designed to acquaint students with the many societal and technological problems facing the United States and the world due to the increasing demand for energy. The course begins with a writing assignment that involves readings on the environmental philosophy of Native Americans and the Chernobyl catastrophe.…

  18. Is low-energy-ion bombardment generated X-ray emission a secondary mutational source to ion-beam-induced genetic mutation?

    NASA Astrophysics Data System (ADS)

    Thongkumkoon, P.; Prakrajang, K.; Thopan, P.; Yaopromsiri, C.; Suwannakachorn, D.; Yu, L. D.

    2013-07-01

    Low-energy ion beam biotechnology has achieved tremendous successes in inducing crop mutation and gene transfer. However, mechanisms involved in the related processes are not yet well understood. In ion-beam-induced mutation, ion-bombardment-produced X-ray has been proposed to be one of the secondary mutation sources, but the speculation has not yet been experimentally tested. We carried out this investigation to test whether the low-energy ion-beam-produced X-ray was a source of ion-beam-induced mutation. In the investigation, X-ray emission from 29-keV nitrogen- or argon- ion beam bombarded bacterial Escherichia coli (E. coli) cells held in a metal or plastic sample holder was in situ detected using a highly sensitive X-ray detector. The ion beam bombarded bacterial cells held in different material holders were observed for mutation induction. The results led to a conclusion that secondary X-ray emitted from ion-beam-bombarded biological living materials themselves was not a, or at least a negligible, mutational source, but the ion-beam-induced X-ray emission from the metal that made the sample holder could be a source of mutation.

  19. Molecular genetics of Thiobacillus ferrooxidans.

    PubMed Central

    Rawlings, D E; Kusano, T

    1994-01-01

    Thiobacillus ferrooxidans is a gram-negative, highly acidophilic (pH 1.5 to 2.0), autotrophic bacterium that obtains its energy through the oxidation of ferrous iron or reduced inorganic sulfur compounds. It is usually dominant in the mixed bacterial populations that are used industrially for the extraction of metals such as copper and uranium from their ores. More recently, these bacterial consortia have been used for the biooxidation of refractory gold-bearing arsenopyrite ores prior to the recovery of gold by cyanidation. The commercial use of T. ferrooxidans has led to an increasing interest in the genetics and molecular biology of the bacterium. Initial investigations were aimed at determining whether the unique physiology and specialized habitat of T. ferrooxidans had been accompanied by a high degree of genetic drift from other gram-negative bacteria. Early genetic studies were comparative in nature and concerned the isolation of genes such as nifHDK, glnA, and recA, which are widespread among bacteria. From a molecular biology viewpoint, T. ferrooxidans appears to be a typical member of the proteobacteria. In most instances, cloned gene promoters and protein products have been functional in Escherichia coli. Although T. ferrooxidans has proved difficult to transform with DNA, research on indigenous plasmids and the isolation of the T. ferrooxidans merA gene have resulted in the development of a low-efficiency electroporation system for one strain of T. ferrooxidans. The most recent studies have focused on the molecular genetics of the pathways associated with nitrogen metabolism, carbon dioxide fixation, and components of the energy-producing mechanisms. PMID:8177170

  20. Caging and Uncaging Genetics

    PubMed Central

    Little, Tom J.; Colegrave, Nick

    2016-01-01

    It is important for biology to understand if observations made in highly reductionist laboratory settings generalise to harsh and noisy natural environments in which genetic variation is sorted to produce adaptation. But what do we learn by studying, in the laboratory, a genetically diverse population that mirrors the wild? What is the best design for studying genetic variation? When should we consider it at all? The right experimental approach depends on what you want to know. PMID:27458971

  1. Genetic toxicology: web resources.

    PubMed

    Young, Robert R

    2002-04-25

    Genetic toxicology is the scientific discipline dealing with the effects of chemical, physical and biological agents on the heredity of living organisms. The Internet offers a wide range of online digital resources for the field of Genetic Toxicology. The history of genetic toxicology and electronic data collections are reviewed. Web-based resources at US National Library of Medicine (NLM), including MEDLINE, PUBMED, Gateway, Entrez, and TOXNET, are discussed. Search strategies and Medical Subject Headings (MeSH) are reviewed in the context of genetic toxicology. The TOXNET group of databases are discussed with emphasis on those databases with genetic toxicology content including GENE-TOX, TOXLINE, Hazardous Substances Data Bank, Integrated Risk Information System, and Chemical Carcinogenesis Research Information System. Location of chemical information including chemical structure and linkage to health and regulatory information using CHEMIDPLUS at NLM and other databases is reviewed. Various government agencies have active genetic toxicology research programs or use genetic toxicology data to assist fulfilling the agency's mission. Online resources at the US Food and Drug Administration (FDA), the US Environmental Protection Agency (EPA), the National Institutes of Environmental Health Sciences, and the National Toxicology Program (NTP) are outlined. Much of the genetic toxicology for pharmaceuticals, industrial chemicals and pesticides that is performed in the world is regulatory-driven. Regulatory web resources are presented for the laws mandating testing, guidelines on study design, Good Laboratory Practice (GLP) regulations, and requirements for electronic data collection and reporting. The Internet provides a range of other supporting resources to the field of genetic toxicology. The web links for key professional societies and journals in genetic toxicology are listed. Distance education, educational media resources, and job placement services are also

  2. Genetics, society, and decisions

    SciTech Connect

    Kowles, R.V.

    1985-01-01

    This book provides a conceptual understanding of the biology of genes and also gives current events and controversies in the field. Basic transmission genetics, molecular genetics, and population genetics are covered, with additional discussions relating to such topics as agriculture, aging, forensic science, genetic counseling, gene splicing, and recombinant DNA. Low level radiation and its effects, drugs and heredity, IQ, heredity and racial variation, and creationism versus evolution are also described. ''Billboard'' style diagrams visually explain important concepts. Boldfaced key terms are defined within the text and in a comprehensive glossary. Selected readings, discussion questions and problems, and excellent chapter summaries further aid study.

  3. Is genetic evolution predictable?

    PubMed

    Stern, David L; Orgogozo, Virginie

    2009-02-01

    Ever since the integration of Mendelian genetics into evolutionary biology in the early 20th century, evolutionary geneticists have for the most part treated genes and mutations as generic entities. However, recent observations indicate that all genes are not equal in the eyes of evolution. Evolutionarily relevant mutations tend to accumulate in hotspot genes and at specific positions within genes. Genetic evolution is constrained by gene function, the structure of genetic networks, and population biology. The genetic basis of evolution may be predictable to some extent, and further understanding of this predictability requires incorporation of the specific functions and characteristics of genes into evolutionary theory. PMID:19197055

  4. Genetics in Non-Genetic Model Systems

    PubMed Central

    Lois, Carlos; Groves, James O

    2011-01-01

    The past few decades have seen the field of genetic engineering evolve at a rapid pace, with neuroscientists now equipped with a wide range of tools for the manipulation of an animal's genome in order to study brain function. However, the number of species to which these technologies have been applied, namely the fruit fly, C. elegans, zebrafish and mouse, remains relatively few. This review will discuss the variety of approaches to genetic modification that have been developed in such traditional ‘genetic systems’, and highlight the progress that has been made to translate these technologies to alternative species such as rats, monkeys and birds, where certain neurobiological questions may be better studied. PMID:22119141

  5. Judaism, genetic screening and genetic therapy.

    PubMed

    Rosner, F

    1998-01-01

    Genetic screening, gene therapy and other applications of genetic engineering are permissible in Judaism when used for the treatment, cure, or prevention of disease. Such genetic manipulation is not considered to be a violation of God's natural law, but a legitimate implementation of the biblical mandate to heal. If Tay-Sachs disease, diabetes, hemophilia, cystic fibrosis, Huntington's disease or other genetic diseases can be cured or prevented by "gene surgery," then it is certainly permitted in Jewish law. Genetic premarital screening is encouraged in Judaism for the purpose of discouraging at-risk marriages for a fatal illness such as Tay-Sachs disease. Neonatal screening for treatable conditions such as phenylketonuria is certainly desirable and perhaps required in Jewish law. Preimplantation screening and the implantation of only "healthy" zygotes into the mother's womb to prevent the birth of an affected child are probably sanctioned in Jewish law. Whether or not these assisted reproduction techniques may be used to choose the sex of one's offspring, to prevent the birth of a child with a sex-linked disease such as hemophilia, has not yet been ruled on by modern rabbinic decisions. Prenatal screening with the specific intent of aborting an affected fetus is not allowed according to most rabbinic authorities, although a minority view permits it "for great need." Not to have children if both parents are carriers of genetic diseases such as Tay-Sachs is not a Jewish option. Preimplantation screening is preferable. All screening test results must remain confidential. Judaism does not permit the alteration or manipulation of physical traits and characteristics such as height, eye and hair color, facial features and the like, when such change provides no useful benefit to mankind. On the other hand, it is permissible to clone organisms and microorganisms to facilitate the production of insulin, growth hormone, and other agents intended to benefit mankind and to

  6. Energy

    SciTech Connect

    Crowley, M.

    1980-01-01

    Nearly 800 organizations are described as sources of information and publications relating to any aspect of energy. The descriptions enable the user to identify organizations by their concerns, goals, and backers as well as their information services. The majority of entries are US organizations, with some international, Canadian, and United Kingdom. Source organizations are arranged alphabetically in eight major categories: Government agencies and quasi-governmental organizations; Activist/civic/public education organizations; Professional/labor/trade asociations; University-affiliated research centers and programs; Independent research organizations; Corporations and other businesses; Publishers, distributors, and information services; and International, foreign agencies, research institutes, corporations, and other associations. The appendices list other grass-roots organizations and sources, title, and subject indices. (DCK)

  7. Blackberry Breeding and Genetics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Plant Breeding Reviews has been published since the early 1980s and each edition presents a thorough review of the state of the are on breeding and genetics of specific crop plant. The extensive chapter on blackberry breeding and genetics is organized as follows: INTRODUCTION (Origin and Speciation...

  8. Genetic differential calculus.

    PubMed

    Mott, Richard

    2015-09-01

    High-throughput analysis of the phenotypes of mouse genetic knockouts presents several challenges, such as systematic measurement biases that can vary with time. A report from the EUMODIC consortium presents data from 320 genetic knockouts generated using standardized phenotyping pipelines and new statistical analyses aimed at increasing reproducibility across centers. PMID:26313224

  9. Genetics in the courts

    SciTech Connect

    Coyle, Heather; Drell, Dan

    2000-12-01

    Various: (1)TriState 2000 Genetics in the Courts (2) Growing impact of the new genetics on the courts (3)Human testing (4) Legal analysis - in re G.C. (5) Legal analysis - GM ''peanots'', and (6) Legal analysis for State vs Miller

  10. Genetics and Developmental Psychology

    ERIC Educational Resources Information Center

    Plomin, Robert

    2004-01-01

    One of the major changes in developmental psychology during the past 50 years has been the acceptance of the important role of nature (genetics) as well as nurture (environment). Past research consisting of twin and adoption studies has shown that genetic influence is substantial for most domains of developmental psychology. Present research…

  11. Genetics of aging bone.

    PubMed

    Adams, Douglas J; Rowe, David W; Ackert-Bicknell, Cheryl L

    2016-08-01

    With aging, the skeleton experiences a number of changes, which include reductions in mass and changes in matrix composition, leading to fragility and ultimately an increase of fracture risk. A number of aspects of bone physiology are controlled by genetic factors, including peak bone mass, bone shape, and composition; however, forward genetic studies in humans have largely concentrated on clinically available measures such as bone mineral density (BMD). Forward genetic studies in rodents have also heavily focused on BMD; however, investigations of direct measures of bone strength, size, and shape have also been conducted. Overwhelmingly, these studies of the genetics of bone strength have identified loci that modulate strength via influencing bone size, and may not impact the matrix material properties of bone. Many of the rodent forward genetic studies lacked sufficient mapping resolution for candidate gene identification; however, newer studies using genetic mapping populations such as Advanced Intercrosses and the Collaborative Cross appear to have overcome this issue and show promise for future studies. The majority of the genetic mapping studies conducted to date have focused on younger animals and thus an understanding of the genetic control of age-related bone loss represents a key gap in knowledge. PMID:27272104

  12. [Human genetics and ethics].

    PubMed

    Zergollern, L

    1990-01-01

    Many new problems and dilemmas have occurred in the practice of medical geneticists with the development of human genetics and its subdisciplines--molecular genetics, ethic genetics and juridical genetics. Devoid of the possibility to get adequate education, genetic informer or better to say, counsellor, although a scientist and a professional who has already formed his ethic attitudes, often finds himself in a dilemma when he has to decide whether a procedure made possible by progress of science is ethical or not. Thus, due to different attitudes, same decision is ethical for some, while for the others it is not. Ethic committees are groups of moral and good people trying to find an objective approach to certain genetic and ethic problems. There are more and more ethically unanswered questions in modern human genetics, and particularly in medical genetics. Medical geneticist-ethicist still encounters numerous problems in his work. These are, for example, experiments with human gametes and embryos, possibilities of hybridization of human gametes with animal gametes, in vitro fertilization, detection of heterozygotes and homozygotes for monogene diseases. early detection of chromosomopathies, substitute mothers, homo and hetero insemination, transplantation of fetal and cadeveric organs, uncontrolled consumption of alcohol and drugs, environmental pollution, etc. It is almost impossible to create a single attitude which shall be shared by all those engaged in human health protection. Therefore, it is best to have a neutral eugenetic attitude which allows free ethical choice of each individual, in any case, for the well-being of man. PMID:2366624

  13. Soybean Molecular Genetic Diversity

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A history of the various DNA marker types used in the assessment of molecular genetic diversity in soybean [Glycine max (L.) Merr.] is followed by a description of a number of studies on the assessment of genetic diversity. These studies include a review of reports on 1) the quantification and comp...

  14. Genetic Influences on Learning Disabilties I: Clinical Genetics.

    ERIC Educational Resources Information Center

    Smith, Shelley D.; Pennington, Bruce F.

    1983-01-01

    A discussion of basic genetic principles is followed by a review of selected genetic syndromes involving learning disabilites (such as Noonan Syndrome, Neurofibromatosis, Pheuylketonuria, and cleft lip and palate). Guidelines for securing a genetic evaluation are given. (CL)

  15. Cryptic Genetic Variation in Evolutionary Developmental Genetics.

    PubMed

    Paaby, Annalise B; Gibson, Greg

    2016-01-01

    Evolutionary developmental genetics has traditionally been conducted by two groups: Molecular evolutionists who emphasize divergence between species or higher taxa, and quantitative geneticists who study variation within species. Neither approach really comes to grips with the complexities of evolutionary transitions, particularly in light of the realization from genome-wide association studies that most complex traits fit an infinitesimal architecture, being influenced by thousands of loci. This paper discusses robustness, plasticity and lability, phenomena that we argue potentiate major evolutionary changes and provide a bridge between the conceptual treatments of macro- and micro-evolution. We offer cryptic genetic variation and conditional neutrality as mechanisms by which standing genetic variation can lead to developmental system drift and, sheltered within canalized processes, may facilitate developmental transitions and the evolution of novelty. Synthesis of the two dominant perspectives will require recognition that adaptation, divergence, drift and stability all depend on similar underlying quantitative genetic processes-processes that cannot be fully observed in continuously varying visible traits. PMID:27304973

  16. Cryptic Genetic Variation in Evolutionary Developmental Genetics

    PubMed Central

    Paaby, Annalise B.; Gibson, Greg

    2016-01-01

    Evolutionary developmental genetics has traditionally been conducted by two groups: Molecular evolutionists who emphasize divergence between species or higher taxa, and quantitative geneticists who study variation within species. Neither approach really comes to grips with the complexities of evolutionary transitions, particularly in light of the realization from genome-wide association studies that most complex traits fit an infinitesimal architecture, being influenced by thousands of loci. This paper discusses robustness, plasticity and lability, phenomena that we argue potentiate major evolutionary changes and provide a bridge between the conceptual treatments of macro- and micro-evolution. We offer cryptic genetic variation and conditional neutrality as mechanisms by which standing genetic variation can lead to developmental system drift and, sheltered within canalized processes, may facilitate developmental transitions and the evolution of novelty. Synthesis of the two dominant perspectives will require recognition that adaptation, divergence, drift and stability all depend on similar underlying quantitative genetic processes—processes that cannot be fully observed in continuously varying visible traits. PMID:27304973

  17. Genetics of stroke

    PubMed Central

    Guo, Jin-min; Liu, Ai-jun; Su, Ding-feng

    2010-01-01

    Stroke is the second most common cause of death and the most common cause of disability in developed countries. Stroke is a multi-factorial disease caused by a combination of environmental and genetic factors. Numerous epidemiologic studies have documented a significant genetic component in the occurrence of strokes. Genes encoding products involved in lipid metabolism, thrombosis, and inflammation are believed to be potential genetic factors for stroke. Although a large group of candidate genes have been studied, most of the epidemiological results are conflicting. Studies of stroke as a monogenic disease have made huge progress, and animal models serve as an indispensable tool to dissect the complex genetics of stroke. In the present review, we provide insight into the role of in vivo stroke models for the study of stroke genetics. PMID:20729874

  18. Evolutionary behavioral genetics

    PubMed Central

    Zietsch, Brendan P.; de Candia, Teresa R; Keller, Matthew C.

    2014-01-01

    We describe the scientific enterprise at the intersection of evolutionary psychology and behavioral genetics—a field that could be termed Evolutionary Behavioral Genetics—and how modern genetic data is revolutionizing our ability to test questions in this field. We first explain how genetically informative data and designs can be used to investigate questions about the evolution of human behavior, and describe some of the findings arising from these approaches. Second, we explain how evolutionary theory can be applied to the investigation of behavioral genetic variation. We give examples of how new data and methods provide insight into the genetic architecture of behavioral variation and what this tells us about the evolutionary processes that acted on the underlying causal genetic variants. PMID:25587556

  19. Genetics of gastrointestinal atresias.

    PubMed

    Celli, Jacopo

    2014-08-01

    Gastrointestinal atresias are a common and serious feature within the spectrum of gastrointestinal malformations. Atresias tend to be lethal, although, now-days surgery and appropriate care can restore function to the affected organs. In spite of their frequency, their life threatening condition and report history gastrointestinal atresias' etiology remains mostly unclarified. Gastrointestinal atresias can occur as sporadic but they are more commonly seen in association with other anomalies. For the syndromic cases there is mounting evidence of a strong genetic component. Sporadic cases are generally thought to originate from mechanical or vascular incidents in utero, especially for the atresias of the lower intestinal tract. However, recent data show that a genetic component may be present also in these cases. Embryological and genetic studies are starting to uncover the mechanism of gastrointestinal development and their genetic components. Here we present an overview of the current knowledge of gastrointestinal atresias, their syndromic forms and the genetic pathways involved in gastrointestinal malformation. PMID:25019371

  20. Improved Wood Properties Through Genetic Manipulation

    SciTech Connect

    2006-10-01

    This factsheet describes a research project to replacing the more chemically resistant guaiacyl (G) lignin with the less resistant hardwood guaiacyl (G)-syringyl (S) lignin genes. Achieving this genetic change would reduce the energy, chemical, and bleaching required in Kraft pulp production of softwoods.

  1. Genetics Home Reference: phosphoglycerate kinase deficiency

    MedlinePlus

    ... the expand/collapse boxes. Download PDF Open All Close All Description Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major ...

  2. Genetic variation and its maintenance

    SciTech Connect

    Roberts, D.F.; De Stefano, G.F.

    1986-01-01

    This book contains several papers divided among three sections. The section titles are: Genetic Diversity--Its Dimensions; Genetic Diversity--Its Origin and Maintenance; and Genetic Diversity--Applications and Problems of Complex Characters.

  3. Genetics & the Quality of Life.

    ERIC Educational Resources Information Center

    McInerney, Joseph D.

    1989-01-01

    Describes the contribution made to the quality of human life by the study of genetics. Presents a description of the current status of genetics education. Suggests changes in genetics education necessary to keep up with new developments. (39 references) (CW)

  4. MedlinePlus: Genetic Counseling

    MedlinePlus

    ... Here Frequently Asked Questions about Genetic Counseling (National Human Genome Research Institute) Genetic Counseling (Centers for Disease Control and Prevention) Genetic Counseling (March of Dimes Birth Defects Foundation) Also in Spanish Making Sense of ...

  5. Genetics, Disease Prevention and Treatment

    MedlinePlus

    ... for the genetic terms used on this page Genetics, Disease Prevention and Treatment Overview How can learning ... gov] Top of page How can knowing about genetics help treat disease? Every year, more than two ...

  6. National Society of Genetic Counselors

    MedlinePlus

    ... us: About NSGC About NSGC Join NSGC About Genetic Counselors NSGC in the News NSGC Leadership In ... Opportunities AEC Sponsors Healthcare Providers How can a genetic counselor help my practice? Genetic counselors can help ...

  7. Dairy Cattle: Breeding and Genetics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Five primary factors affect breeding genetically improved dairy cattle: 1) identification, 2) pedigree, 3) performance recording, 4) artificial insemination, and 5) genetic evaluation systems (traditional and genomic). Genetic progress can be measured as increased efficiency (higher performance with...

  8. Genetics of population isolates.

    PubMed

    Arcos-Burgos, M; Muenke, M

    2002-04-01

    Genetic isolates, as shown empirically by the Finnish, Old Order Amish, Hutterites, Sardinian and Jewish communities among others, represent a most important and powerful tool in genetically mapping inherited disorders. The main features associated with that genetic power are the existence of multigenerational pedigrees which are mostly descended from a small number of founders a short number of generations ago, environmental and phenotypic homogeneity, restricted geographical distribution, the presence of exhaustive and detailed records correlating individuals in very well ascertained pedigrees, and inbreeding as a norm. On the other hand, the presence of a multifounder effect or admixture among divergent populations in the founder time (e.g. the Finnish and the Paisa community from Colombia) will theoretically result in increased linkage disequilibrium among adjacent loci. The present review evaluates the historical context and features of some genetic isolates with emphasis on the basic population genetic concepts of inbreeding and genetic drift, and also the state-of-the-art in mapping traits, both Mendelian and complex, on genetic isolates. PMID:12030885

  9. Engineering Genetically Encoded FRET Sensors

    PubMed Central

    Lindenburg, Laurens; Merkx, Maarten

    2014-01-01

    Förster Resonance Energy Transfer (FRET) between two fluorescent proteins can be exploited to create fully genetically encoded and thus subcellularly targetable sensors. FRET sensors report changes in energy transfer between a donor and an acceptor fluorescent protein that occur when an attached sensor domain undergoes a change in conformation in response to ligand binding. The design of sensitive FRET sensors remains challenging as there are few generally applicable design rules and each sensor must be optimized anew. In this review we discuss various strategies that address this shortcoming, including rational design approaches that exploit self-associating fluorescent domains and the directed evolution of FRET sensors using high-throughput screening. PMID:24991940

  10. Genetic autonomic disorders.

    PubMed

    Axelrod, Felicia B

    2013-03-01

    Genetic disorders affecting the autonomic nervous system can result in abnormal development of the nervous system or they can be caused by neurotransmitter imbalance, an ion-channel disturbance or by storage of deleterious material. The symptoms indicating autonomic dysfunction, however, will depend upon whether the genetic lesion has disrupted peripheral or central autonomic centers or both. Because the autonomic nervous system is pervasive and affects every organ system in the body, autonomic dysfunction will result in impaired homeostasis and symptoms will vary. The possibility of genetic confirmation by molecular testing for specific diagnosis is increasing but treatments tend to remain only supportive and directed toward particular symptoms. PMID:23465768

  11. Genetics of Obesity.

    PubMed

    Srivastava, Apurva; Srivastava, Neena; Mittal, Balraj

    2016-10-01

    Numerous classical genetic studies have proved that genes are contributory factors for obesity. Genes are directly responsible for obesity associated disorders such as Bardet-Biedl and Prader-Willi syndromes. However, both genes as well as environment are associated with obesity in the general population. Genetic epidemiological approaches, particularly genome-wide association studies, have unraveled many genes which play important roles in human obesity. Elucidation of their biological functions can be very useful for understanding pathobiology of obesity. In the near future, further exploration of obesity genetics may help to develop useful diagnostic and predictive tests for obesity treatment. PMID:27605733

  12. Genetic Stroke Syndromes

    PubMed Central

    Barrett, Kevin M.; Meschia, James F.

    2014-01-01

    Purpose of Review: This review describes the clinical and radiographic features, genetic determinants, and treatment options for the most well-characterized monogenic disorders associated with stroke. Recent Findings: Stroke is a phenotype of many clinically important inherited disorders. Recognition of the clinical manifestations of genetic disorders associated with stroke is important for accurate diagnosis and prognosis. Genetic studies have led to the discovery of specific mutations associated with the clinical phenotypes of many inherited stroke syndromes. Summary: Several inherited causes of stroke have established and effective therapies, further underscoring the importance of timely diagnosis. PMID:24699489

  13. Statistics for Learning Genetics

    NASA Astrophysics Data System (ADS)

    Charles, Abigail Sheena

    This study investigated the knowledge and skills that biology students may need to help them understand statistics/mathematics as it applies to genetics. The data are based on analyses of current representative genetics texts, practicing genetics professors' perspectives, and more directly, students' perceptions of, and performance in, doing statistically-based genetics problems. This issue is at the emerging edge of modern college-level genetics instruction, and this study attempts to identify key theoretical components for creating a specialized biological statistics curriculum. The goal of this curriculum will be to prepare biology students with the skills for assimilating quantitatively-based genetic processes, increasingly at the forefront of modern genetics. To fulfill this, two college level classes at two universities were surveyed. One university was located in the northeastern US and the other in the West Indies. There was a sample size of 42 students and a supplementary interview was administered to a select 9 students. Interviews were also administered to professors in the field in order to gain insight into the teaching of statistics in genetics. Key findings indicated that students had very little to no background in statistics (55%). Although students did perform well on exams with 60% of the population receiving an A or B grade, 77% of them did not offer good explanations on a probability question associated with the normal distribution provided in the survey. The scope and presentation of the applicable statistics/mathematics in some of the most used textbooks in genetics teaching, as well as genetics syllabi used by instructors do not help the issue. It was found that the text books, often times, either did not give effective explanations for students, or completely left out certain topics. The omission of certain statistical/mathematical oriented topics was seen to be also true with the genetics syllabi reviewed for this study. Nonetheless

  14. Genetics of Male Infertility.

    PubMed

    Neto, Filipe Tenorio Lira; Bach, Phil Vu; Najari, Bobby Baback; Li, Philip Shihua; Goldstein, Marc

    2016-10-01

    While 7 % of the men are infertile, currently, a genetic etiology is identified in less than 25 % of those men, and 30 % of the infertile men lack a definitive diagnosis, falling in the "idiopathic infertility" category. Advances in genetics and epigenetics have led to several proposed mechanisms for male infertility. These advances may result in new diagnostic tools, treatment approaches, and better counseling with regard to treatment options and prognosis. In this review, we focus on clinical aspects of male infertility and the role of genetics in elucidating etiologies and the potential of treatments. PMID:27502429

  15. Genetics and antisocial behavior.

    PubMed

    Joseph, Jay

    2003-01-01

    This commentary article reviews a recent meta-analysis of genetic influences on antisocial behavior by Rhee and Waldman (2002). The authors combined the results of 51 twin and adoption studies and concluded that antisocial behavior has an important genetic component. However, twin and adoption studies contain several methodological flaws and are subject to the confounding influence of environmental factors. Therefore, Rhee and Waldman's conclusions in favor of genetic influences are not supported by the evidence. Two additional topics are Rhee and Waldman's incorrect description of the heritability concept and their failure to discuss several German criminal twin studies published during the Nazi era. PMID:15279006

  16. Genetically Engineered Cyanobacteria

    NASA Technical Reports Server (NTRS)

    Zhou, Ruanbao (Inventor); Gibbons, William (Inventor)

    2015-01-01

    The disclosed embodiments provide cyanobacteria spp. that have been genetically engineered to have increased production of carbon-based products of interest. These genetically engineered hosts efficiently convert carbon dioxide and light into carbon-based products of interest such as long chained hydrocarbons. Several constructs containing polynucleotides encoding enzymes active in the metabolic pathways of cyanobacteria are disclosed. In many instances, the cyanobacteria strains have been further genetically modified to optimize production of the carbon-based products of interest. The optimization includes both up-regulation and down-regulation of particular genes.

  17. Molecular Genetics of Mycobacteriophages

    PubMed Central

    HATFULL, GRAHAM F.

    2014-01-01

    Mycobacteriophages have provided numerous essential tools for mycobacterial genetics, including delivery systems for transposons, reporter genes, and allelic exchange substrates, and components for plasmid vectors and mutagenesis. Their genetically diverse genomes also reveal insights into the broader nature of the phage population and the evolutionary mechanisms that give rise to it. The substantial advances in our understanding of the biology of mycobacteriophages including a large collection of completely sequenced genomes indicates a rich potential for further contributions in tuberculosis genetics and beyond. PMID:25328854

  18. Genetic Time Travel.

    PubMed

    Krause, Johannes; Pääbo, Svante

    2016-05-01

    At its core, genetics is a historical discipline. Mutations are passed on from generation to generation and accumulate as a result of chance as well as of selection within and between populations and species. However, until recently, geneticists were confined to the study of present-day genetic variation and could only indirectly make inferences about the historical processes that resulted in the variation in present-day gene pools. This "time trap" has now been overcome thanks to the ability to analyze DNA extracted from ancient remains, and this is about to revolutionize several aspects of genetics. PMID:27183562

  19. Genetics Home Reference: Turner syndrome

    MedlinePlus

    ... pregnancies that do not survive to term (miscarriages and stillbirths). Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  20. Genetics for the Human Race

    SciTech Connect

    Myles Axton; Francis Collins; Charles Rotimi; Charmaine Royal; David Goldstein, Daniel Drell; Georgia Dunston; Rick Kittles; Lynn Jorde; Mildred Cho; Joanna Mountain; Ari Patrinos; Neil Risch; Shomarka Keita; Kenneth Kidd; Mark Shriver; Sarah Tishkoff

    2004-11-01

    This supplement has its origins on May 15, 2003, when the National Human Genome Center at Howard University held a small but important workshop in Washington DC. The workshop, Human Genome Variation and 'Race', and this special issue of Nature Genetics were proposed by scientists at Howard University and financially supported by the Genome Programs of the US Department of Energy, through its Office of Science; the Irving Harris Foundation; the National Institutes of Health, through the National Human Genome Research Institute; and Howard University. As summarized by Francis Collins, director of the National Human Genome Research Institute, the workshop focused on several key questions: ''What does the current body of scientific information say about the connections among race, ethnicity, genetics and health? What remains unknown? What additional research is needed? How can this information be applied to benefit human health? How might this information be applied in nonmedical settings? How can we adopt policies that will achieve beneficial societal outcomes?'' This supplement, supported by the Department of Energy through a grant to Howard University, contains articles based on the presentations at this workshop.

  1. Genetics and Genetic Testing in Pancreatic Cancer.

    PubMed

    Whitcomb, David C; Shelton, Celeste A; Brand, Randall E

    2015-10-01

    Genetic testing of germline DNA is used in patients suspected of being at risk of pancreatic ductal adenocarcinoma (PDAC) to better define the individual's risk and to determine the mechanism of risk. A high genetic risk increases the pretest probability that a biomarker of early cancer is a true positive and warrants further investigation. The highest PDAC risk is generally associated with a hereditary predisposition. However, the majority of PDAC results from complex, progressive gene-environment interactions that currently fall outside the traditional risk models. Over many years, the combination of inflammation, exposure to DNA-damaging toxins, and failed DNA repair promote the accumulation of somatic mutations in pancreatic cells; PDAC risk is further increased by already present oncogenic germline mutations. Predictive models and new technologies are needed to classify patients into more accurate and mechanistic PDAC risk categories that can be linked to improved surveillance and preventative strategies. PMID:26255042

  2. Genetics of osteoarthritis.

    PubMed

    Rodriguez-Fontenla, Cristina; Gonzalez, Antonio

    2015-01-01

    Osteoarthritis (OA) is a complex disease caused by the interaction of multiple genetic and environmental factors. This review focuses on the studies that have contributed to the discovery of genetic susceptibility factors in OA. The most relevant associations discovered until now are discussed in detail: GDF-5, 7q22 locus, MCF2L, DOT1L, NCOA3 and also some important findings from the arcOGEN study. Moreover, the different approaches that can be used to minimize the specific problems of the study of OA genetics are discussed. These include the study of microsatellites, phenotype standardization and other methods such as meta-analysis of GWAS and gene-based analysis. It is expected that these new approaches contribute to finding new susceptibility genetic factors for OA. PMID:24992825

  3. Genetics Home Reference: osteopetrosis

    MedlinePlus

    ... Open All Close All Description Osteopetrosis is a bone disease that makes bones abnormally dense and prone to ... Other Names for This Condition congenital osteopetrosis marble bone disease osteopetroses Related Information How are genetic conditions and ...

  4. Genetics Home Reference: alkaptonuria

    MedlinePlus

    ... homogentisate oxidase. This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks ... Resources MedlinePlus (2 links) Encyclopedia: Alkaptonuria Health Topic: Amino Acid Metabolism Disorders Genetic and Rare Diseases Information Center ( ...

  5. Genetics Home Reference: histidinemia

    MedlinePlus

    ... condition characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia ... Additional Information & Resources MedlinePlus (2 links) Health Topic: Amino Acid Metabolism Disorders Health Topic: Newborn Screening Genetic and ...

  6. Genetics Home Reference: hyperlysinemia

    MedlinePlus

    ... condition characterized by elevated blood levels of the amino acid lysine, a building block of most proteins. Hyperlysinemia ... Additional Information & Resources MedlinePlus (2 links) Health Topic: Amino Acid Metabolism Disorders Health Topic: Newborn Screening Genetic and ...

  7. Genetics Home Reference: anencephaly

    MedlinePlus

    ... Help Me Understand Genetics Home Health Conditions anencephaly anencephaly Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Anencephaly is a condition that prevents the normal development ...

  8. Transgenerational genetic effects

    PubMed Central

    Nelson, Vicki R; Nadeau, Joseph H

    2012-01-01

    Since Mendel, studies of phenotypic variation and disease risk have emphasized associations between genotype and phenotype among affected individuals in families and populations. Although this paradigm has led to important insights into the molecular basis for many traits and diseases, most of the genetic variants that control the inheritance of these conditions continue to elude detection. Recent studies suggest an alternative mode of inheritance where genetic variants that are present in one generation affect phenotypes in subsequent generations, thereby decoupling the conventional relations between genotype and phenotype, and perhaps, contributing to ‘missing heritability’. Under some conditions, these transgenerational genetic effects can be as frequent and strong as conventional inheritance, and can persist for multiple generations. Growing evidence suggests that RNA mediates these heritable epigenetic changes. The primary challenge now is to identify the molecular basis for these effects, characterize mechanisms and determine whether transgenerational genetic effects occur in humans. PMID:22122083

  9. Genetics Home Reference: galactosialidosis

    MedlinePlus

    ... down sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) or fats (glycolipids). Cathepsin A is also found ... Inherited Metabolic Diseases ISMRD: The International Advocate for Glycoprotein Storage Diseases Genetic Testing Registry (1 link) Combined ...

  10. Genetics Home Reference: neuroblastoma

    MedlinePlus

    ... Help Me Understand Genetics Home Health Conditions neuroblastoma neuroblastoma Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Neuroblastoma is a type of cancer that most often ...

  11. Genetics Home Reference: acatalasemia

    MedlinePlus

    ... particular ethnic groups? Genetic Changes Mutations in the CAT gene can cause acatalasemia . This gene provides instructions ... DNA, proteins, and cell membranes. Mutations in the CAT gene greatly reduce the activity of catalase. A ...

  12. Genetics of Bone Density

    MedlinePlus

    ... study linked 32 novel genetic regions to bone mineral density. The findings may help researchers understand why ... or treating osteoporosis. Bones are made of a mineral and protein scaffold filled with bone cells. Bone ...

  13. Genetics Home Reference: macrozoospermia

    MedlinePlus

    ... leads to an inability to father biological children (infertility). In affected males, almost all sperm cells have ... Sperm Analysis Centers for Disease Control and Prevention: Infertility FAQs Genetic Testing Registry: Infertility associated with multi- ...

  14. Genetics Home Reference: hypochondroplasia

    MedlinePlus

    ... Description Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into ... Resources MedlinePlus (2 links) Encyclopedia: Lordosis Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  15. LSD and Genetic Damage

    ERIC Educational Resources Information Center

    Dishotsky, Norman I.; And Others

    1971-01-01

    Reviews studies of the effects of lysergic acid diethylamide (LSD) on man and other organisms. Concludes that pure LSD injected in moderate doses does not cause chromosome or detectable genetic damage and is not a teratogen or carcinogen. (JM)

  16. Determinants of genetic diversity.

    PubMed

    Ellegren, Hans; Galtier, Nicolas

    2016-07-01

    Genetic polymorphism varies among species and within genomes, and has important implications for the evolution and conservation of species. The determinants of this variation have been poorly understood, but population genomic data from a wide range of organisms now make it possible to delineate the underlying evolutionary processes, notably how variation in the effective population size (Ne) governs genetic diversity. Comparative population genomics is on its way to providing a solution to 'Lewontin's paradox' - the discrepancy between the many orders of magnitude of variation in population size and the much narrower distribution of diversity levels. It seems that linked selection plays an important part both in the overall genetic diversity of a species and in the variation in diversity within the genome. Genetic diversity also seems to be predictable from the life history of a species. PMID:27265362

  17. Genetics Home Reference: hemophilia

    MedlinePlus

    ... Help Me Understand Genetics Home Health Conditions hemophilia hemophilia Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Hemophilia is a bleeding disorder that slows the blood ...

  18. Genetic Testing and PXE

    MedlinePlus

    ... with PXE International's board certified genetic counselor, please call 202.362.9599. Leave your name, address, email and phone ... Connecticut Avenue NW - Suite 404 • Washington DC 20008-2304 • Telephone: 202.362.9599

  19. Genetics Home Reference: sialidosis

    MedlinePlus

    ... syndrome Related Information How are genetic conditions and genes named? ... Morrone A. Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. J ...

  20. Annual review of genetics

    SciTech Connect

    Campbelll, A. . Aerosol Lab.)

    1988-01-01

    This book discusses the papers on genome organization in mammals. Various species mentioned are: cats; dogs; rodents; primates; chinese hamster, cows, horses, pigs, etc. Genetic mapping, biological evolution and DNA sequencing are briefly discussed.

  1. Genetic research in space

    NASA Technical Reports Server (NTRS)

    Delone, N. L.; Antipov, V. V.; Ilyin, Ye. A.

    1988-01-01

    The role of the genetic apparatus in the adaptation of the organism to conditions of weightlessness is studied. The investigation includes studies at the gene, chromosome, cell, tissue, and organism levels, as well as studies at the population level.

  2. Genetic obesity syndromes.

    PubMed

    Goldstone, Anthony P; Beales, Philip L

    2008-01-01

    There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome. PMID:18230893

  3. Genetics of Diabetes

    MedlinePlus

    ... A A A Listen En Español Genetics of Diabetes You've probably wondered how you developed diabetes. ... to develop diabetes than others. What Leads to Diabetes? Type 1 and type 2 diabetes have different ...

  4. [Genetic effects of radiation].

    PubMed

    Nakamura, Nori

    2012-03-01

    This paper is a short review of genetic effect of radiation. This includes methods and results of a large-scale genetic study on specific loci in mice and of various studies in the offspring of atomic-bomb survivors. As for the latter, there is no results obtained which suggest the effect of parental exposure to radiation. Further, in recent years, studies are conducted to the offspring born to parents who were survivors of childhood cancers. In several reports, the mean gonad dose is quite large whereas in most instances, the results do not indicate genetic effect following parental exposure to radiation. Possible reasons for the difficulties in detecting genetic effect of radiation are discussed. PMID:22514926

  5. Genetics Home Reference: hypochondrogenesis

    MedlinePlus

    ... and Rare Diseases Information Center Frequency Hypochondrogenesis and achondrogenesis , type 2 (a similar skeletal disorder) together affect ... of hypochondrogenesis: Genetic Testing Registry: ... Achondrogenesis These resources from MedlinePlus offer information about the ...

  6. Primer on molecular genetics

    SciTech Connect

    Not Available

    1992-04-01

    This report is taken from the April 1992 draft of the DOE Human Genome 1991--1992 Program Report, which is expected to be published in May 1992. The primer is intended to be an introduction to basic principles of molecular genetics pertaining to the genome project. The material contained herein is not final and may be incomplete. Techniques of genetic mapping and DNA sequencing are described.

  7. Contemporary Genetics for Gender Researchers: Not Your Grandma's Genetics Anymore

    ERIC Educational Resources Information Center

    Salk, Rachel H.; Hyde, Janet S.

    2012-01-01

    Over the past century, much of genetics was deterministic, and feminist researchers framed justified criticisms of genetics research. However, over the past two decades, genetics research has evolved remarkably and has moved far from earlier deterministic approaches. Our article provides a brief primer on modern genetics, emphasizing contemporary…

  8. The origin of life. [genetically important molecules

    NASA Technical Reports Server (NTRS)

    Horowitz, N. H.; Hubbard, J. S.

    1974-01-01

    Research in the areas of precambrian paleontology, chemical evolution of genetically important monomers, prebiotic dehydration-condensation reactions, organic compounds in meteorites and interstellar space, and biological exploration of the planets is summarized. Fossils in precambrian cherts and findings of eukaryotic cells are described, and recent investigations of prebiotic conditions, energy sources, and starting materials for genetic molecules are outlined. Studies of homogeneous and heterogeneous dehydrations and of nonaqueous thermal dehydrations are described. The detection of amino acids, purines, and pyrimidines in meteorites and of biologically significant molecules in interstellar clouds is discussed, as well as the possibilities of life on Jupiter, Mars, and Titan.

  9. Synchronization of genetic oscillators

    NASA Astrophysics Data System (ADS)

    Zhou, Tianshou; Zhang, Jiajun; Yuan, Zhanjiang; Chen, Luonan

    2008-09-01

    Synchronization of genetic or cellular oscillators is a central topic in understanding the rhythmicity of living organisms at both molecular and cellular levels. Here, we show how a collective rhythm across a population of genetic oscillators through synchronization-induced intercellular communication is achieved, and how an ensemble of independent genetic oscillators is synchronized by a common noisy signaling molecule. Our main purpose is to elucidate various synchronization mechanisms from the viewpoint of dynamics, by investigating the effects of various biologically plausible couplings, several kinds of noise, and external stimuli. To have a comprehensive understanding on the synchronization of genetic oscillators, we consider three classes of genetic oscillators: smooth oscillators (exhibiting sine-like oscillations), relaxation oscillators (displaying jump dynamics), and stochastic oscillators (noise-induced oscillation). For every class, we further study two cases: with intercellular communication (including phase-attractive and repulsive coupling) and without communication between cells. We find that an ensemble of smooth oscillators has different synchronization phenomena from those in the case of relaxation oscillators, where noise plays a different but key role in synchronization. To show differences in synchronization between them, we make comparisons in many aspects. We also show that a population of genetic stochastic oscillators have their own synchronization mechanisms. In addition, we present interesting phenomena, e.g., for relaxation-type stochastic oscillators coupled to a quorum-sensing mechanism, different noise intensities can induce different periodic motions (i.e., inhomogeneous limit cycles).

  10. Ecogeographic Genetic Epidemiology

    PubMed Central

    Sloan, Chantel D.; Duell, Eric J.; Shi, Xun; Irwin, Rebecca; Andrew, Angeline S.; Williams, Scott M.; Moore, Jason H.

    2009-01-01

    Complex diseases such as cancer and heart disease result from interactions between an individual's genetics and environment, i.e. their human ecology. Rates of complex diseases have consistently demonstrated geographic patterns of incidence, or spatial “clusters” of increased incidence relative to the general population. Likewise, genetic subpopulations and environmental influences are not evenly distributed across space. Merging appropriate methods from genetic epidemiology, ecology and geography will provide a more complete understanding of the spatial interactions between genetics and environment that result in spatial patterning of disease rates. Geographic Information Systems (GIS), which are tools designed specifically for dealing with geographic data and performing spatial analyses to determine their relationship, are key to this kind of data integration. Here the authors introduce a new interdisciplinary paradigm, ecogeographic genetic epidemiology, which uses GIS and spatial statistical analyses to layer genetic subpopulation and environmental data with disease rates and thereby discern the complex gene-environment interactions which result in spatial patterns of incidence. PMID:19025788

  11. Genetic Manipulation in Pigs

    PubMed Central

    Sachs, David H.; Galli, Cesare

    2009-01-01

    Purpose of Review Recent developments in the field of genetic engineering have made it possible to add, delete or exchange genes from one species to another. This technology has special relevance to the field of xenotransplantation, in which the elimination of a species-specific disparity could make the difference between success or failure of an organ transplant. This review focuses on developments in both the techniques and applications of genetically modified animals. Recent Findings Advances have been made using existing techniques for genetic modifications of swine and in the development of new, emerging technologies, including enzymatic engineering and the use of siRNA. Applications of the modified animals have provided evidence that genetically modified swine have the potential to overcome both physiologic and immunologic barriers that have previously impeded this field. Use of GalT-KO animals as donors have shown marked improvements in xenograft survivals. Summary Techniques for genetic engineering of swine have been directed toward avoiding naturally existing cellular and antibody responses to species-specific antigens. Organs from genetically engineered animals have enjoyed markedly improved survivals in non-human primates, especially in protocols directed toward the induction of tolerance, presumably by avoiding immunization to new antigens. PMID:19469029

  12. Early Alzheimer's disease genetics.

    PubMed

    Schellenberg, Gerard D

    2006-01-01

    The genetics community working on Alzheimer's disease and related dementias has made remarkable progress in the past 20 years. The cumulative efforts by multiple groups have lead to the identification of three autosomal dominant genes for early onset AD. These are the amyloid-beta protein precursor gene (APP), and the genes encoding presenilin1 and 2. The knowledge derived from this work has firmly established Abeta as a critical disease molecule and lead to candidate drugs currently in treatment trials. Work on a related disease, frontotemporal dementia with parkinsonism - chromosome 17 type has also added to our understanding of pathogenesis by revealing that tau, the protein component of neurofibrillary tangles, is also a critical molecule in neurodegeneration. Lessons learned that still influence work on human genetics include the need to recognize and deal with genetic heterogeneity, a feature common to many genetic disorders. Genetic heterogeneity, if recognized, can be source of information. Another critical lesson is that clinical, molecular, and statistical scientists need to work closely on disease projects to succeed in solving the complex problems of common genetic disorders. PMID:16914874

  13. What was classical genetics?

    PubMed

    Waters, C Kenneth

    2004-12-01

    I present an account of classical genetics to challenge theory-biased approaches in the philosophy of science. Philosophers typically assume that scientific knowledge is ultimately structured by explanatory reasoning and that research programs in well-established sciences are organized around efforts to fill out a central theory and extend its explanatory range. In the case of classical genetics, philosophers assume that the knowledge was structured by T. H. Morgan's theory of transmission and that research throughout the later 1920s, 30s, and 40s was organized around efforts to further validate, develop, and extend this theory, I show that classical genetics was structured by an integration of explanatory reasoning (associated with the transmission theory) and investigative strategies (such as the 'genetic approach'). The investigative strategies, which have been overlooked in historical and philosophical accounts, were as important as the so-called laws of Mendelian genetics. By the later 1920s, geneticists of the Morgan school were no longer organizing research around the goal of explaining inheritance patterns; rather, they were using genetics to investigate a range of biological phenomena that extended well beyond the explanatory domain of transmission theories. Theory-biased approaches in history and philosophy of science fail to reveal the overall structure of scientific knowledge and obscure the way it functions. PMID:15682554

  14. Genetic Algorithm Based Neural Networks for Nonlinear Optimization

    Energy Science and Technology Software Center (ESTSC)

    1994-09-28

    This software develops a novel approach to nonlinear optimization using genetic algorithm based neural networks. To our best knowledge, this approach represents the first attempt at applying both neural network and genetic algorithm techniques to solve a nonlinear optimization problem. The approach constructs a neural network structure and an appropriately shaped energy surface whose minima correspond to optimal solutions of the problem. A genetic algorithm is employed to perform a parallel and powerful search ofmore » the energy surface.« less

  15. High Points of Human Genetics

    ERIC Educational Resources Information Center

    Stern, Curt

    1975-01-01

    Discusses such high points of human genetics as the study of chromosomes, somatic cell hybrids, the population formula: the Hardy-Weinberg Law, biochemical genetics, the single-active X Theory, behavioral genetics and finally how genetics can serve humanity. (BR)

  16. Genetic of uveitis.

    PubMed

    Pichi, Francesco; Carrai, Paola; Srivastava, Sunil K; Lowder, Careen Y; Nucci, Paolo; Neri, Piergiorgio

    2016-06-01

    Immune-mediated uveitis may be associated with a systemic disease or may be localized to the eye. T-cell-dependent immunological events are increasingly being regarded as extremely important in the pathogenesis of uveitis. Several studies have also shown that macrophages are major effectors of tissue damage in uveitis. Uveitis phenotypes can differ substantially, and most uveitis diseases are considered polygenic with complex inheritance patterns. This review attempts to present the current state of knowledge from in vitro and in vivo research on the role of genetics in the development and clinical course of uveitis. A review of the literature in the PubMed, MEDLINE, and Cochrane databases was conducted to identify clinical trials, comparative studies, case series, and case reports describing host genetic factors as well as immune imbalance which contribute to the development of uveitis. The search was limited to primary reports published in English with human subjects from 1990 to the present, yielding 3590 manuscripts. In addition, referenced articles from the initial searches were hand searched to identify additional relevant reports. After title and abstract selection, duplicate elimination, and manual search, 55 papers were selected for analysis and reviewed by the authors for inclusion in this review. Studies have demonstrated associations between various genetic factors and the development and clinical course of intraocular inflammatory conditions. Genes involved included genes expressing interleukins, chemokines, chemokine receptors, and tumor necrosis factor and genes involved in complement system. When considering the genetics of uveitis, common threads can be identified. Genome-wide scans and other genetic methods are becoming increasingly successful in identifying genetic loci and candidate genes in many inflammatory disorders that have a uveitic component. It will be important to test these findings as uveitis-specific genetic factors. Therefore, the

  17. Genetics of otitis media.

    PubMed

    Post, J Christopher

    2011-01-01

    There is a growing body of evidence, both from animal and human studies, that host genetic factors can influence the risk of developing otitis media (OM). The role of genetics in OM has been elucidated through studies with monozygotic and dizygotic twins, analyses linking genetic polymorphisms to OM susceptibility, and genome scans. Several twin studies have shown a strong genetic component to middle ear effusion risk, with the estimate of the role of heredity for the proportion of time with middle ear effusions being around 0.7. Genetic polymorphisms in plasminogen activator inhibitor-1, interleukin-6, tumor necrosis factor-α, human leukocyte antigen, and mannose-binding lectin have been variously linked with OM and upper respiratory infection susceptibility. Several genome linkage studies have identified chromosomal regions associated with chronic OM, including 3p, 10q, 10q22.3, 17q12 and 19q. A number of candidate genes are associated with these sites. Given the current state of understanding of the role of genetics in OM, a family history of OM should be ascertained for all patients. Children with a strong family history of OM should be considered as candidates for a more aggressive early treatment of OM, particularly if other risk factors are present. These children may be earlier candidates for the placement of tympanostomy tubes and/or adenoidectomy. Existing data do not support routine genetic testing to determine a child's susceptibility to OM; however, given the advances in whole genome sequencing, such testing may someday play a role in the management of the OM patient. PMID:21358196

  18. Frequently Asked Questions about Genetic Testing

    MedlinePlus

    ... sobre las pruebas genéticas Frequently Asked Questions About Genetic Testing What is genetic testing? What can I ... find more information about genetic testing? What is genetic testing? Genetic testing uses laboratory methods to look ...

  19. Genetic epidemiology, genetic maps and positional cloning.

    PubMed Central

    Morton, Newton E

    2003-01-01

    Genetic epidemiology developed in the middle of the last century, focused on inherited causes of disease but with methods and results applicable to other traits and even forensics. Early success with linkage led to the localization of genes contributing to disease, and ultimately to the Human Genome Project. The discovery of millions of DNA markers has encouraged more efficient positional cloning by linkage disequilibrium (LD), using LD maps and haplotypes in ways that are rapidly evolving. This has led to large international programmes, some promising and others alarming, with laws about DNA patenting and ethical guidelines for responsible research still struggling to be born. PMID:14561327

  20. Genetical background of intelligence.

    PubMed

    Junkiert-Czarnecka, Anna; Haus, Olga

    2016-01-01

    Intelligence as an ability to reason, think abstractly and adapt effectively to the environment is a subject of research in the field of psychology, neurobiology, and in the last twenty years genetics as well. Genetical testing of twins carried out from XX century indicated heritebility of intelligence, therefore confirmed an influence of genetic factor on cognitive processes. Studies on genetic background of intelligence focus on dopaminergic (DRD2, DRD4, COMT, SLC6A3, DAT1, CCKAR) and adrenergic system (ADRB2, CHRM2) genes as well as, neutrofins (BDNF) and oxidative stress genes (LTF, PRNP). Positive effect of investigated gene polymorphism was indicated by variation c.957C>T DRD2 gene (if in polymorphic site is thymine), polymorphism c.472G>A COMT gene (presence of adenine) and also gene ADRB2 c.46A->G (guanine), CHRM2 (thymine in place c.1890A>T) and BDNF (guanine in place c.472G>A) Obtained results indicate that intelligence is a feature dependent not only on genetic but also an environmental factor. PMID:27333929

  1. Constraints in Genetic Programming

    NASA Technical Reports Server (NTRS)

    Janikow, Cezary Z.

    1996-01-01

    Genetic programming refers to a class of genetic algorithms utilizing generic representation in the form of program trees. For a particular application, one needs to provide the set of functions, whose compositions determine the space of program structures being evolved, and the set of terminals, which determine the space of specific instances of those programs. The algorithm searches the space for the best program for a given problem, applying evolutionary mechanisms borrowed from nature. Genetic algorithms have shown great capabilities in approximately solving optimization problems which could not be approximated or solved with other methods. Genetic programming extends their capabilities to deal with a broader variety of problems. However, it also extends the size of the search space, which often becomes too large to be effectively searched even by evolutionary methods. Therefore, our objective is to utilize problem constraints, if such can be identified, to restrict this space. In this publication, we propose a generic constraint specification language, powerful enough for a broad class of problem constraints. This language has two elements -- one reduces only the number of program instances, the other reduces both the space of program structures as well as their instances. With this language, we define the minimal set of complete constraints, and a set of operators guaranteeing offspring validity from valid parents. We also show that these operators are not less efficient than the standard genetic programming operators if one preprocesses the constraints - the necessary mechanisms are identified.

  2. Genetics of Vesicoureteral Reflux.

    PubMed

    Nino, F; Ilari, M; Noviello, C; Santoro, L; Rätsch, I M; Martino, A; Cobellis, G

    2016-02-01

    Vesicoureteral reflux (VUR) is the retrograde passage of urine from the bladder to the upper urinary tract. It is the most common congenital urological anomaly affecting 1-2% of children and 30-40% of patients with urinary tract infections. VUR is a major risk factor for pyelonephritic scarring and chronic renal failure in children. It is the result of a shortened intravesical ureter with an enlarged or malpositioned ureteric orifice. An ectopic embryonal ureteric budding development is implicated in the pathogenesis of VUR, which is a complex genetic developmental disorder. Many genes are involved in the ureteric budding formation and subsequently in the urinary tract and kidney development. Previous studies demonstrate an heterogeneous genetic pattern of VUR. In fact no single major locus or gene for primary VUR has been identified. It is likely that different forms of VUR with different genetic determinantes are present. Moreover genetic studies of syndromes with associated VUR have revealed several possible candidate genes involved in the pathogenesis of VUR and related urinary tract malformations. Mutations in genes essential for urinary tract morphogenesis are linked to numerous congenital syndromes, and in most of those VUR is a feature. The Authors provide an overview of the developmental processes leading to the VUR. The different genes and signaling pathways controlling the embryonal urinary tract development are analyzed. A better understanding of VUR genetic bases could improve the management of this condition in children. PMID:27013925

  3. Genetics of Vesicoureteral Reflux

    PubMed Central

    Ninoa, F.; Ilaria, M.; Noviello, C.; Santoro, L.; Rätsch, I.M.; Martino, A.; Cobellis, G.

    2016-01-01

    Vesicoureteral reflux (VUR) is the retrograde passage of urine from the bladder to the upper urinary tract. It is the most common congenital urological anomaly affecting 1-2% of children and 30-40% of patients with urinary tract infections. VUR is a major risk factor for pyelonephritic scarring and chronic renal failure in children. It is the result of a shortened intravesical ureter with an enlarged or malpositioned ureteric orifice. An ectopic embryonal ureteric budding development is implicated in the pathogenesis of VUR, which is a complex genetic developmental disorder. Many genes are involved in the ureteric budding formation and subsequently in the urinary tract and kidney development. Previous studies demonstrate an heterogeneous genetic pattern of VUR. In fact no single major locus or gene for primary VUR has been identified. It is likely that different forms of VUR with different genetic determinantes are present. Moreover genetic studies of syndromes with associated VUR have revealed several possible candidate genes involved in the pathogenesis of VUR and related urinary tract malformations. Mutations in genes essential for urinary tract morphogenesis are linked to numerous congenital syndromes, and in most of those VUR is a feature. The Authors provide an overview of the developmental processes leading to the VUR. The different genes and signaling pathways controlling the embryonal urinary tract development are analyzed. A better understanding of VUR genetic bases could improve the management of this condition in children. PMID:27013925

  4. Genetic mutations associated with status epilepticus.

    PubMed

    Bhatnagar, M; Shorvon, S

    2015-08-01

    This paper reports the results of a preliminary search of the literature aimed at identifying the genetic mutations reported to be strongly associated with status epilepticus. Genetic mutations were selected for inclusion if status epilepticus was specifically mentioned as a consequence of the mutation in standard genetic databases or in a case report or review article. Mutations in 122 genes were identified. The genetic mutations identified were found in only rare conditions (sometimes vanishingly rare) and mostly in infants and young children with multiple other handicaps. Most of the genetic mutations can be subdivided into those associated with cortical dysplasias, inborn errors of metabolism, mitochondrial disease, or epileptic encephalopathies and childhood syndromes. There are no identified 'pure status epilepticus genes'. The range of genes underpinning status epilepticus differs in many ways from the range of genes underpinning epilepsy, which suggests that the processes underpinning status epilepticus differ from those underpinning epilepsy. It has been frequently postulated that status epilepticus is the result of a failure of 'seizure termination mechanisms', but the wide variety of genes affecting very diverse biochemical pathways identified in this survey makes any unitary cause unlikely. The genetic influences in status epilepticus are likely to involve a wide range of mechanisms, some related to development, some to cerebral energy production, some to diverse altered biochemical pathways, some to transmitter and membrane function, and some to defects in networks or systems. The fact that many of the identified genes are involved with cerebral development suggests that status epilepticus might often be a system or network phenomenon. To date, there are very few genes identified which are associated with adult-onset status epilepticus (except in those with preexisting neurological damage), and this is disappointing as the cause of many adult

  5. Genetics in Osteoarthritis

    PubMed Central

    Fernández-Moreno, Mercedes; Rego, Ignacio; Carreira-Garcia, Vanessa; Blanco, Francisco J

    2008-01-01

    Osteoarthritis is a degenerative articular disease with complex pathogeny because diverse factors interact causing a process of deterioration of the cartilage. Despite the multifactorial nature of this pathology, from the 50’s it´s known that certain forms of osteoarthritis are related to a strong genetic component. The genetic bases of this disease do not follow the typical patterns of mendelian inheritance and probably they are related to alterations in multiple genes. The identification of a high number of candidate genes to confer susceptibility to the development of the osteoarthritis shows the complex nature of this disease. At the moment, the genetic mechanisms of this disease are not known, however, which seems clear is that expression levels of several genes are altered, and that the inheritance will become a substantial factor in future considerations of diagnosis and treatment of the osteoarthritis. PMID:19516961

  6. Genetic Epidemiology of Psoriasis

    PubMed Central

    Gupta, Rashmi; Debbaneh, Maya G.; Liao, Wilson

    2014-01-01

    Psoriasis is a chronic, inflammatory, immune-mediated skin condition with a prevalence of 0-11.8% across the world. It is associated with a number of cardiovascular, metabolic, and autoimmune disease co-morbidities. Psoriasis is a multifactorial disorder, influenced by both genetic and environmental factors. Its genetic basis has long been established through twin studies and familial clustering. The association of psoriasis with the HLA-Cw6 allele has been shown in many studies. Recent genome-wide association studies have identified a large number of other genes associated with psoriasis. Many of these genes regulate the innate and adaptive immune system. These findings indicate that a dysregulated immune system may play a major role in the pathogenesis of psoriasis. In this article, we review the clinical and genetic epidemiology of psoriasis with a brief description of the pathogenesis of disease. PMID:25580373

  7. Population genetics of Lithuanians.

    PubMed

    Ku inskas, V

    2001-01-01

    The primary objective of this article was to overview the present-day knowledge on genetic features of the Lithuanian population. Genetic differentiation within the Lithuanian population and the relationship between Lithuanians and other European populations was analysed by means of blood groups, serum protein polymorphisms and DNA markers including mtDNA. The results of the research have shown small differences between present-day Lithuanian ethnolinguistic groups, which probably go back to the prehistoric Baltic tribal structure. The Baltic peoples show a mixture of eastern and western genetic traits, e.g. a high frequency of the blood group B combined with a very high frequency of the Rh-negative blood group. Studies of the Baltic 'tribal gene' LWb indicate the presence of a considerable Baltic admixture in the neighbouring Finno-Ugric and Slavic populations. PMID:11201326

  8. Imposing genetic diversity.

    PubMed

    Sparrow, Robert

    2015-01-01

    The idea that a world in which everyone was born "perfect" would be a world in which something valuable was missing often comes up in debates about the ethics of technologies of prenatal testing and preimplantation genetic diagnosis (PGD). This thought plays an important role in the "disability critique" of prenatal testing. However, the idea that human genetic variation is an important good with significant benefits for society at large is also embraced by a wide range of figures writing in the bioethics literature, including some who are notoriously hostile to the idea that we should not select against disability. By developing a number of thought experiments wherein we are to contemplate increasing genetic diversity from a lower baseline in order to secure this value, I argue that this powerful intuition is more problematic than is generally recognized, especially where the price of diversity is the well-being of particular individuals. PMID:26030484

  9. Darwin's contributions to genetics.

    PubMed

    Liu, Y-S; Zhou, X-M; Zhi, M-X; Li, X-J; Wang, Q-L

    2009-01-01

    Darwin's contributions to evolutionary biology are well known, but his contributions to genetics are much less known. His main contribution was the collection of a tremendous amount of genetic data, and an attempt to provide a theoretical framework for its interpretation. Darwin clearly described almost all genetic phenomena of fundamental importance, such as prepotency (Mendelian inheritance), bud variation (mutation), heterosis, reversion (atavism), graft hybridization (Michurinian inheritance), sex-limited inheritance, the direct action of the male element on the female (xenia and telegony), the effect of use and disuse, the inheritance of acquired characters (Lamarckian inheritance), and many other observations pertaining to variation, heredity and development. To explain all these observations, Darwin formulated a developmental theory of heredity - Pangenesis - which not only greatly influenced many subsequent theories, but also is supported by recent evidence. PMID:19638672

  10. Intelligence, race, and genetics.

    PubMed

    Sternberg, Robert J; Grigorenko, Elena L; Kidd, Kenneth K

    2005-01-01

    In this article, the authors argue that the overwhelming portion of the literature on intelligence, race, and genetics is based on folk taxonomies rather than scientific analysis. They suggest that because theorists of intelligence disagree as to what it is, any consideration of its relationships to other constructs must be tentative at best. They further argue that race is a social construction with no scientific definition. Thus, studies of the relationship between race and other constructs may serve social ends but cannot serve scientific ends. No gene has yet been conclusively linked to intelligence, so attempts to provide a compelling genetic link of race to intelligence are not feasible at this time. The authors also show that heritability, a behavior-genetic concept, is inadequate in regard to providing such a link. PMID:15641921

  11. Molecular Genetics in Glaucoma

    PubMed Central

    Liu, Yutao

    2015-01-01

    Glaucoma is a family of diseases whose pathology is defined by the progressive loss of retinal ganglion cells. Clinically, glaucoma presents as a distinctive optic neuropathy with associated visual field loss. Primary open-angle glaucoma (POAG), chronic angle closure glaucoma (ACG), and exfoliation glaucoma (XFG) are the most prevalent forms of glaucoma globally and are the most common causes of glaucoma-related blindness worldwide. A host of genetic and environmental factors contribute to glaucoma phenotypes. This review examines the current status of genetic investigations of POAG, ACG, XFG, including the less common forms of glaucoma primary congenital glaucoma (PCG), the developmental glaucomas, and pigment dispersion glaucoma. PMID:21871452

  12. Genetic control of mosquitoes.

    PubMed

    Alphey, Luke

    2014-01-01

    Genetics can potentially provide new, species-specific, environmentally friendly methods for mosquito control. Genetic control strategies aim either to suppress target populations or to introduce a harm-reducing novel trait. Different approaches differ considerably in their properties, especially between self-limiting strategies, where the modification has limited persistence, and self-sustaining strategies, which are intended to persist indefinitely in the target population and may invade other populations. Several methods with different molecular biology are under development and the first field trials have been completed successfully. PMID:24160434

  13. Promoting Utilization of Saccharum spp. Genetic Resources through Genetic Diversity Analysis and Core Collection Construction

    PubMed Central

    Pathak, Bhuvan; Ayala-Silva, Tomas; Yang, Xiping; Todd, James; Glynn, Neil C.; Kuhn, David N.; Glaz, Barry; Gilbert, Robert A.; Comstock, Jack C.; Wang, Jianping

    2014-01-01

    Sugarcane (Saccharum spp.) and other members of Saccharum spp. are attractive biofuel feedstocks. One of the two World Collections of Sugarcane and Related Grasses (WCSRG) is in Miami, FL. This WCSRG has 1002 accessions, presumably with valuable alleles for biomass, other important agronomic traits, and stress resistance. However, the WCSRG has not been fully exploited by breeders due to its lack of characterization and unmanageable population. In order to optimize the use of this genetic resource, we aim to 1) genotypically evaluate all the 1002 accessions to understand its genetic diversity and population structure and 2) form a core collection, which captures most of the genetic diversity in the WCSRG. We screened 36 microsatellite markers on 1002 genotypes and recorded 209 alleles. Genetic diversity of the WCSRG ranged from 0 to 0.5 with an average of 0.304. The population structure analysis and principal coordinate analysis revealed three clusters with all S. spontaneum in one cluster, S. officinarum and S. hybrids in the second cluster and mostly non-Saccharum spp. in the third cluster. A core collection of 300 accessions was identified which captured the maximum genetic diversity of the entire WCSRG which can be further exploited for sugarcane and energy cane breeding. Sugarcane and energy cane breeders can effectively utilize this core collection for cultivar improvement. Further, the core collection can provide resources for forming an association panel to evaluate the traits of agronomic and commercial importance. PMID:25333358

  14. Promoting utilization of Saccharum spp. genetic resources through genetic diversity analysis and core collection construction.

    PubMed

    Nayak, Spurthi N; Song, Jian; Villa, Andrea; Pathak, Bhuvan; Ayala-Silva, Tomas; Yang, Xiping; Todd, James; Glynn, Neil C; Kuhn, David N; Glaz, Barry; Gilbert, Robert A; Comstock, Jack C; Wang, Jianping

    2014-01-01

    Sugarcane (Saccharum spp.) and other members of Saccharum spp. are attractive biofuel feedstocks. One of the two World Collections of Sugarcane and Related Grasses (WCSRG) is in Miami, FL. This WCSRG has 1002 accessions, presumably with valuable alleles for biomass, other important agronomic traits, and stress resistance. However, the WCSRG has not been fully exploited by breeders due to its lack of characterization and unmanageable population. In order to optimize the use of this genetic resource, we aim to 1) genotypically evaluate all the 1002 accessions to understand its genetic diversity and population structure and 2) form a core collection, which captures most of the genetic diversity in the WCSRG. We screened 36 microsatellite markers on 1002 genotypes and recorded 209 alleles. Genetic diversity of the WCSRG ranged from 0 to 0.5 with an average of 0.304. The population structure analysis and principal coordinate analysis revealed three clusters with all S. spontaneum in one cluster, S. officinarum and S. hybrids in the second cluster and mostly non-Saccharum spp. in the third cluster. A core collection of 300 accessions was identified which captured the maximum genetic diversity of the entire WCSRG which can be further exploited for sugarcane and energy cane breeding. Sugarcane and energy cane breeders can effectively utilize this core collection for cultivar improvement. Further, the core collection can provide resources for forming an association panel to evaluate the traits of agronomic and commercial importance. PMID:25333358

  15. Pediatric genetic disorders of lens

    PubMed Central

    Nihalani, Bharti R.

    2014-01-01

    Pediatric genetic disorders of lens include various cataractous and non-cataractous anomalies. The purpose of this review is to help determine the genetic cause based on the lens appearance, ocular and systemic associations. Children with bilateral cataracts require a comprehensive history, ophthalmic and systemic examination to guide further genetic evaluation. With advancements in genetics, it is possible to determine the genetic mutations and assess phenotype genotype correlation in different lens disorders. The genetic diagnosis helps the families to better understand the disorder and develop realistic expectations as to the course of their child's disorder.

  16. Genetics for the General Internist

    PubMed Central

    Laukaitis, Christina M.

    2011-01-01

    The internist’s goal is to determine a patient’s disease risk and to implement preventative interventions. Genetic evaluation is a powerful risk assessment tool and new interventions target previously untreatable genetic disorders. The purpose of this review is to educate the general internist about common genetic conditions affecting adult patients with special emphasis on diagnoses with an effective intervention, including hereditary cancer syndromes and cardiovascular disorders. Basic tenets of genetic counseling, complex genetic disease and management of adults with genetic diagnoses are also discussed. PMID:22079017

  17. Workshop on molecular methods for genetic diagnosis. Final technical report

    SciTech Connect

    Rinchik, E.M.

    1997-07-01

    The Sarah Lawrence College Human Genetics Program received Department of Energy funding to offer a continuing medical education workshop for genetic counselors in the New York metropolitan area. According to statistics from the National Society of Genetic Counselors, there are approximately 160 genetic counselors working in the tri-state area (New York, New Jersey, and Connecticut), and many of them had been working in the field for more than 10 years. Thus, there was a real need to offer these counselors an in-depth opportunity to learn the specifics of the major advances in molecular genetics, and, in particular, the new approaches to diagnostic testing for genetic disease. As a result of the DOE Award DE-FG02-95ER62048 ($20,583), in July 1995 we offered the {open_quotes}Workshop on Molecular Methods for Genetic Diagnosis{close_quotes} for 24 genetic counselors in the New York metropolitan area. The workshop included an initial review session on the basics of molecular biology, lectures and discussions on past and current topics in molecular genetics and diagnostic procedures, and, importantly, daily laboratory exercises. Each counselor gained not only background, but also firsthand experience, in the major techniques of biochemical and molecular methods for diagnosing genetic diseases as well as in mathematical and computational techniques involved in human genetics analyses. Our goal in offering this workshop was not to make genetic counselors experts in these laboratory diagnostic techniques, but to acquaint them, by hands-on experience, about some of the techniques currently in use. We also wanted to provide them a technical foundation upon which they can understand and appreciate new technical developments arising in the near future.

  18. Maize Genetic Resources

    Technology Transfer Automated Retrieval System (TEKTRAN)

    This chapter describes the resources held at the Maize Genetics Cooperation • Stock Center in detail and also provides some information about the North Central Regional Plant Introduction Station (NCRPIS) in Ames, IA, Centro Internacional de Mejoramiento de Maiz y Trigo (CIMMYT) in Mexico, and the N...

  19. Genetically Engineering Entomopathogenic Fungi.

    PubMed

    Zhao, H; Lovett, B; Fang, W

    2016-01-01

    Entomopathogenic fungi have been developed as environmentally friendly alternatives to chemical insecticides in biocontrol programs for agricultural pests and vectors of disease. However, mycoinsecticides currently have a small market share due to low virulence and inconsistencies in their performance. Genetic engineering has made it possible to significantly improve the virulence of fungi and their tolerance to adverse conditions. Virulence enhancement has been achieved by engineering fungi to express insect proteins and insecticidal proteins/peptides from insect predators and other insect pathogens, or by overexpressing the pathogen's own genes. Importantly, protein engineering can be used to mix and match functional domains from diverse genes sourced from entomopathogenic fungi and other organisms, producing insecticidal proteins with novel characteristics. Fungal tolerance to abiotic stresses, especially UV radiation, has been greatly improved by introducing into entomopathogens a photoreactivation system from an archaean and pigment synthesis pathways from nonentomopathogenic fungi. Conversely, gene knockout strategies have produced strains with reduced ecological fitness as recipients for genetic engineering to improve virulence; the resulting strains are hypervirulent, but will not persist in the environment. Coupled with their natural insect specificity, safety concerns can also be mitigated by using safe effector proteins with selection marker genes removed after transformation. With the increasing public concern over the continued use of synthetic chemical insecticides and growing public acceptance of genetically modified organisms, new types of biological insecticides produced by genetic engineering offer a range of environmentally friendly options for cost-effective control of insect pests. PMID:27131325

  20. Genetics Home Reference: SADDAN

    MedlinePlus

    ... particular ethnic groups? Genetic Changes Mutations in the FGFR3 gene cause SADDAN . The FGFR3 gene provides instructions for making a protein that ... A mutation in this gene may cause the FGFR3 protein to be overly active, which leads to ...

  1. Genetic recombination. [Escherichia coli

    SciTech Connect

    Stahl, F.W.

    1987-02-01

    The molecular pathways of gene recombination are explored and compared in studies of the model organisms, Escherichia coli and phase lambda. In the discussion of data from these studies it seems that recombination varies with the genetic idiosyncrasies of the organism and may also vary within a single organism.

  2. Genetics Home Reference: sialuria

    MedlinePlus

    ... conditions more common in particular ethnic groups? Genetic Changes Mutations in the GNE gene cause sialuria . The GNE gene provides instructions for making an enzyme found in cells and tissues throughout the body. This enzyme is involved in a chemical pathway that produces sialic acid, which is a ...

  3. Genetic Dominance & Cellular Processes

    ERIC Educational Resources Information Center

    Seager, Robert D.

    2014-01-01

    In learning genetics, many students misunderstand and misinterpret what "dominance" means. Understanding is easier if students realize that dominance is not a mechanism, but rather a consequence of underlying cellular processes. For example, metabolic pathways are often little affected by changes in enzyme concentration. This means that…

  4. Solving Problems in Genetics

    ERIC Educational Resources Information Center

    Aznar, Mercedes Martinez; Orcajo, Teresa Ibanez

    2005-01-01

    A teaching unit on genetics and human inheritance using problem-solving methodology was undertaken with fourth-level Spanish Secondary Education students (15 year olds). The goal was to study certain aspects of the students' learning process (concepts, procedures and attitude) when using this methodology in the school environment. The change…

  5. Demonstration: Genetic Jewelry

    ERIC Educational Resources Information Center

    Atkins, Thomas; Roderick, Joyce

    2006-01-01

    In order for students to understand genetics and evolution, they must first understand the structure of the DNA molecule. The function of DNA proceeds from its unique structure, a structure beautifully adapted for information storage, transcription, translation into amino acid sequences, replication, and time travel. The activity described in this…

  6. Genetics Home Reference: cherubism

    MedlinePlus

    ... About Genetics Home Reference Site Map Contact Us Selection Criteria for Links Copyright Privacy Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 ...

  7. The new genetics

    SciTech Connect

    Jaroff, L.

    1991-01-01

    Knowing the location and make-up of each of the 50,000 to 100,000 human genes will revolutionize the practice of medicine. This knowledge will lead to tailor-made therapies not only for treating disease but also for preventing it - in short, to a new concept of patient care. The Human Genome Project, a 15-year, $3 billion quest to determine the nucleotide sequence of the entire human genome, will make this possible. In The New Genetics, Leon Jaroff recounts the long path of discovery thatt has led to this huge new scientific venture - from the theory of heredity put forth by Aristotle more than 2,000 years ago to the current attempts to treat adenosine deaminase (ADA) deficiency and malignant melanoma via gene therapy. Against this background, the geneticists, molecular biologists, clinicians, and ethicists involved in the Human Genome Project describe their work and how it will provide physicians with ever more precise and effective tools to treat human disease. Jaroff also reveals the other, more problematic side of the story. Patients with an undesirable genetic profile may be subject to discrimination by private insurers. Physicians who fail to recommend genetic screening may find themselves victims of malpractice or wrongful-life suits. Indeed, these issues and others have already begun to affect physicians. The New Genetics makes it abundantly clear tha a revolution has arrived, and that physicians must be prepared to cope with the new order.

  8. Intelligence, Race, and Genetics

    ERIC Educational Resources Information Center

    Sternberg, Robert J.; Grigorenko, Elena L.; Kidd, Kenneth K.

    2005-01-01

    In this article, the authors argue that the overwhelming portion of the literature on intelligence, race, and genetics is based on folk taxonomies rather than scientific analysis. They suggest that because theorists of intelligence disagree as to what it is, any consideration of its relationships to other constructs must be tentative at best. They…

  9. Genetics of disease resistance

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Genetic resistance is alluring from both the industrial and academic viewpoints. With respect to poultry companies, losses due to diseases induced by infectious pathogens continue to be a significant issue and can be the key factor in determining economic viability. This is because pathogens lead ...

  10. Genetically engineering milk.

    PubMed

    Whitelaw, C Bruce A; Joshi, Akshay; Kumar, Satish; Lillico, Simon G; Proudfoot, Chris

    2016-02-01

    It has been thirty years since the first genetically engineered animal with altered milk composition was reported. During the intervening years, the world population has increased from 5bn to 7bn people. An increasing demand for protein in the human diet has followed this population expansion, putting huge stress on the food supply chain. Many solutions to the grand challenge of food security for all have been proposed and are currently under investigation and study. Amongst these, genetics still has an important role to play, aiming to continually enable the selection of livestock with enhanced traits. Part of the geneticist's tool box is the technology of genetic engineering. In this Invited Review, we indicate that this technology has come a long way, we focus on the genetic engineering of dairy animals and we argue that the new strategies for precision breeding demand proper evaluation as to how they could contribute to the essential increases in agricultural productivity our society must achieve. PMID:26869106

  11. Chapter 2. Genetic Resources

    Technology Transfer Automated Retrieval System (TEKTRAN)

    In this chapter, four categories of plant genetic resources (PGR) are identified as important for breeding: Wild relatives, ecotypes, landraces, and cultivars. Fodder crops and amenity grasses differ from field crops in the relative importance of these categories, as well as in the relative importan...

  12. Association genetics in barley

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Applied and basic barley geneticists have begun to use association genetics as a tool to identify and fine map polymorphisms directly in breeding populations or diversity panels. Barley presents an ideal system because its populations present different extents of LD, from long-range LD in elite cult...

  13. Paper Genetic Engineering.

    ERIC Educational Resources Information Center

    MacClintic, Scott D.; Nelson, Genevieve M.

    Bacterial transformation is a commonly used technique in genetic engineering that involves transferring a gene of interest into a bacterial host so that the bacteria can be used to produce large quantities of the gene product. Although several kits are available for performing bacterial transformation in the classroom, students do not always…

  14. Genetics of Retinoblastoma.

    PubMed

    Mallipatna, Ashwin; Marino, Meghan; Singh, Arun D

    2016-01-01

    Retinoblastoma is a malignant retinal tumor that affects young children. Mutations in the RB1 gene cause retinoblastoma. Mutations in both RB1 alleles within the precursor retinal cell are essential, with one mutation that may be germline or somatic and the second one that is always somatic. Identification of the RB1 germline status of a patient allows differentiation between sporadic and heritable retinoblastoma variants. Application of this knowledge is crucial for assessing short-term (risk of additional tumors in the same eye and other eye) and long-term (risk of nonocular malignant tumors) prognosis and offering cost-effective surveillance strategies. Genetic testing and genetic counseling are therefore essential components of care for all children diagnosed with retinoblastoma. The American Joint Committee on Cancer has acknowledged the importance of detecting this heritable trait and has introduced the letter "H" to denote a heritable trait of all cancers, starting with retinoblastoma (in publication). In this article, we discuss the clinically relevant aspects of genetic testing and genetic counseling for a child with retinoblastoma. PMID:27488068

  15. Genetic Building Blocks

    ERIC Educational Resources Information Center

    Roberg, Ezra

    2004-01-01

    The "Central Dogma" of genetics states that one gene, located in a DNA molecule, is ultimately translated into one protein. As important as this idea is, many teachers shy away from teaching the actual mechanism of gene translation, and many students find the concepts abstract and inaccessible. This article describes a unit, called Genetics…

  16. Genetic resources for phenotyping

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Phenotyping of structured populations, along with molecular genotyping, will be essential for marker development in peanut. This research is essential for making the peanut genome sequence and genomic tools useful to breeders because it makes the connection between genes, gene markers, genetic maps...

  17. Genetics of diabetes complications.

    PubMed

    Alkayyali, Sami; Lyssenko, Valeriya

    2014-10-01

    Chronic hyperglycemia and duration of diabetes are the major risk factors associated with development of micro- and macrovascular complications of diabetes. Although it is believed that hyperglycemia induces damage to the particular cell subtypes, e.g., mesangial cells in the renal glomerulus, capillary endothelial cells in the retina, and neurons and Schwann cells in peripheral nerves, the exact mechanisms underlying these damaging defects are not yet well understood. Clustering of micro- and macrovascular complications in families of patients with diabetes suggests a strong genetic susceptibility. However, until now only a handful number of genetic variants were reported to be associated with either nephropathy (ACE, ELMO1, FRMD3, and AKR1B1) or retinopathy (VEGF, AKR1B1, and EPO), and only a few studies were carried out for genetic susceptibility to cardiovascular diseases (ADIPOQ, GLUL) in patients with diabetes. It is, therefore, obvious that the accumulation of more data from larger studies and better phenotypically characterized cohorts is needed to facilitate genetic discoveries and unravel novel insights into the pathogenesis of diabetic complications. PMID:25169573

  18. Genetics and Genomics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Good progress is being made on genetics and genomics of sugar beet, however it is in process and the tools are now being generated and some results are being analyzed. The GABI BeetSeq project released a first draft of the sugar beet genome of KWS2320, a dihaploid (see http://bvseq.molgen.mpg.de/Gen...

  19. Genetic variability in Macadamia

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A genetic variability analysis involving 45 accessions of Macadamia including four species, M. integrifolia, M. tetraphylla, M. ternifolia, and M. hildebrandii and a wild relative, Hicksbeachia pinnatifolia was performed usingeight enzyme systems encoded by 16 loci (Gpi-1 and 2, Idh-1 and 2, Lap, Md...

  20. The genetics of Tamarix

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Genetic studies have helped us gain basic knowledge of the Tamarix invasion. We now have a better understanding of the species identities involved in the invasion, their evolutionary relationships, and the contribution of hybridization to the invasion. This information can be used to enhance the eff...

  1. Genetics of Candida albicans.

    PubMed Central

    Scherer, S; Magee, P T

    1990-01-01

    Candida albicans is among the most common fungal pathogens. Infections caused by C. albicans and other Candida species can be life threatening in individuals with impaired immune function. Genetic analysis of C. albicans pathogenesis is complicated by the diploid nature of the species and the absence of a known sexual cycle. Through a combination of parasexual techniques and molecular approaches, an effective genetic system has been developed. The close relationship of C. albicans to the more extensively studied Saccharomyces cerevisiae has been of great utility in the isolation of Candida genes and development of the C. albicans DNA transformation system. Molecular methods have been used for clarification of taxonomic relationships and more precise epidemiologic investigations. Analysis of the physical and genetic maps of C. albicans and the closely related Candida stellatoidea has provided much information on the highly fluid nature of the Candida genome. The genetic system is seeing increased application to biological questions such as drug resistance, virulence determinants, and the phenomenon of phenotypic variation. Although most molecular analysis to data has been with C. albicans, the same methodologies are proving highly effective with other Candida species. Images PMID:2215421

  2. Molecular genetics of ependymoma

    PubMed Central

    Yao, Yuan; Mack, Stephen C.; Taylor, Michael D.

    2011-01-01

    Brain tumors are the leading cause of cancer death in children, with ependymoma being the third most common and posing a significant clinical burden. Its mechanism of pathogenesis, reliable prognostic indicators, and effective treatments other than surgical resection have all remained elusive. Until recently, ependymoma research was hindered by the small number of tumors available for study, low resolution of cytogenetic techniques, and lack of cell lines and animal models. Ependymoma heterogeneity, which manifests as variations in tumor location, patient age, histological grade, and clinical behavior, together with the observation of a balanced genomic profile in up to 50% of cases, presents additional challenges in understanding the development and progression of this disease. Despite these difficulties, we have made significant headway in the past decade in identifying the genetic alterations and pathways involved in ependymoma tumorigenesis through collaborative efforts and the application of microarray-based genetic (copy number) and transcriptome profiling platforms. Genetic characterization of ependymoma unraveled distinct mRNA-defined subclasses and led to the identification of radial glial cells as its cell type of origin. This review summarizes our current knowledge in the molecular genetics of ependymoma and proposes future research directions necessary to further advance this field. PMID:21959044

  3. BACTERIOPHAGE: BIOLOGY AND GENETICS

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Bacteriophage are viruses that infect bacteria. Bacteriophage are very small and made up of a protein coat with an inner core containing their genetic material. They infect bacterium, by attaching to the bacterial cell and injecting their nucleic acids into the bacteria. The phages then use the bac...

  4. General cardinality genetic algorithms

    PubMed

    Koehler; Bhattacharyya; Vose

    1997-01-01

    A complete generalization of the Vose genetic algorithm model from the binary to higher cardinality case is provided. Boolean AND and EXCLUSIVE-OR operators are replaced by multiplication and addition over rings of integers. Walsh matrices are generalized with finite Fourier transforms for higher cardinality usage. Comparison of results to the binary case are provided. PMID:10021767

  5. Safe genetically engineered plants

    NASA Astrophysics Data System (ADS)

    Rosellini, D.; Veronesi, F.

    2007-10-01

    The application of genetic engineering to plants has provided genetically modified plants (GMPs, or transgenic plants) that are cultivated worldwide on increasing areas. The most widespread GMPs are herbicide-resistant soybean and canola and insect-resistant corn and cotton. New GMPs that produce vaccines, pharmaceutical or industrial proteins, and fortified food are approaching the market. The techniques employed to introduce foreign genes into plants allow a quite good degree of predictability of the results, and their genome is minimally modified. However, some aspects of GMPs have raised concern: (a) control of the insertion site of the introduced DNA sequences into the plant genome and of its mutagenic effect; (b) presence of selectable marker genes conferring resistance to an antibiotic or an herbicide, linked to the useful gene; (c) insertion of undesired bacterial plasmid sequences; and (d) gene flow from transgenic plants to non-transgenic crops or wild plants. In response to public concerns, genetic engineering techniques are continuously being improved. Techniques to direct foreign gene integration into chosen genomic sites, to avoid the use of selectable genes or to remove them from the cultivated plants, to reduce the transfer of undesired bacterial sequences, and make use of alternative, safer selectable genes, are all fields of active research. In our laboratory, some of these new techniques are applied to alfalfa, an important forage plant. These emerging methods for plant genetic engineering are briefly reviewed in this work.

  6. Genetic disorders of collagen.

    PubMed Central

    Tsipouras, P; Ramirez, F

    1987-01-01

    Osteogenesis imperfecta, Ehlers-Danlos syndrome, and Marfan syndrome form a group of genetic disorders of connective tissue. These disorders exhibit remarkable clinical heterogeneity which reflects their underlying biochemical and molecular differences. Defects in collagen types I and III have been found in all three syndromes. PMID:3543367

  7. The revised genetic code

    NASA Astrophysics Data System (ADS)

    Ninio, Jacques

    1990-03-01

    Recent findings on the genetic code are reviewed, including selenocysteine usage, deviations in the assignments of sense and nonsense codons, RNA editing, natural ribosomal frameshifts and non-orthodox codon-anticodon pairings. A multi-stage codon reading process is presented.

  8. New sunflower genetics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Genetic research of the sunflower research unit, USDA-ARS, in Fargo, ND, was discussed in a presentation to a group of Canadian producers, industry representatives, and scientists. Because this was an international audience, I introduced the audience to ARS and the structure of the sunflower unit, a...

  9. GENETIC EVALUATION OF STILLBIRTH

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A new stillbirth (SB) evaluation has been developed for Holstein bulls, and will be available beginning in August 2006. The data set includes 6 million stillbirth records from calves born since 1980. The genetic analysis includes effects for herd-year, year-season, parity-gender, sire birth year, ma...

  10. Oprelvekin. Genetics Institute.

    PubMed

    Sitaraman, S V; Gewirtz, A T

    2001-10-01

    Genetics Institute has developed and launched oprelvekin (rhIL-11; Neumega), a recombinant form of human IL-11. In November 1997, the FDA cleared oprelvekin for the prevention of severe thrombocytopenia and the reduction of the need for platelet transfusions following myelosuppressive chemotherapy in susceptible patients with non-myeloid malignancies 12703021. The product was launched at the end of 1997 [312556]. By December 1999, phase III trials for Crohn's disease (CD) were underway [363007]. Genetics Institute had commenced a 150-patient phase II trial for mild-to-moderate CD and mucositis and the company planned to file regulatory procedures for the indication of CD in 1999 [271210]. An oral formulation for this indication has been developed. Oprelvekin is also undergoing phase I clinical trials for colitis [396157], phase II clinical trials for rheumatoid arthritis [413835] and clinical trials for psoriasis [299644]. In March 1997, Wyeth-Ayerst became the licensee for Europe, Africa, Latin America and Asia (with the exception of Japan). Genetics Institute holds marketing rights for North America [239273]. In Japan, oprelvekin is being developed by Genetics Institute and Yamanouchi; phase III trials have commenced [295049] and were ongoing in May 2001 [411763]. In April 1996, analysts at Yamaichi estimated launch in 2001 and maximum annual sales of over yen 10 billion [215896]. In January 1998, Morgan Stanley Dean Witter predicted Yamanouchi's share of sales to be yen 1 billion in 2001, rising to yen 2 billion in 2002 [315458]. Sales of oprelvekin were US $34 million for Genetics institute in fiscal 2000 while, in July 2001, Credit Suisse First Boston estimated that this figure will be US $30 million and US $34 million in 2001 and 2002, respectively [416883]. PMID:11890354

  11. Genetic Engineering and the Amelioration of Genetic Defect

    ERIC Educational Resources Information Center

    Lederberg, Joshua

    1970-01-01

    Discusses the claims for a brave new world of genetic manipulation" and concludes that if we could agree upon applying genetic (or any other effective) remedies to global problems we probably would need no rescourse to them. Suggests that effective methods of preventing genetic disease are prevention of mutations and detection and containment of…

  12. Genetic professionals' views on genetic counsellors: a French survey.

    PubMed

    Cordier, Christophe; Taris, Nicolas; Moldovan, Ramona; Sobol, Hagay; Voelckel, Marie-Antoinette

    2016-01-01

    The genetic counselling profession was established in France in 2004. Eight years later, 122 genetic counsellors have graduated from the unique educational French program which awards the Professional Master Degree of Human Pathology, entitled "Master of Genetic Counselling and Predictive Medicine". As part of a global evaluation of this new profession by health genetic professionals, we undertook a national survey investigating various aspects such as employment, work responsibilities and integration. To our knowledge, this is the first study to investigate the views of genetic professionals on the genetic counsellors' role. Of 422 French professionals invited to take part in this study, 126 participated. The survey underlines that this profession is significantly recognized by physicians practicing within genetics departments. French genetic counsellors are allowed to manage consultations independently, without the necessary presence of a qualified medical geneticist but under his or her responsibility. Genetic counsellors participate in a wide range of consultations. They provide both information for relevant and for genetic testing and sometimes disclose the genetic test result to patient. Eventually, the role of genetic counsellors appears to be directly dependent from the relationship of trust between the two health professions. PMID:26280995

  13. Genetics Home Reference: lactose intolerance

    MedlinePlus

    ... DM. Lactose digestion and the evolutionary genetics of lactase persistence. Hum Genet. 2009 Jan;124(6):579-91. ... Swallow DM, Thomas MG. A worldwide correlation of lactase persistence phenotype and genotypes. BMC Evol Biol. 2010 Feb ...

  14. Genetics Home Reference: Pompe disease

    MedlinePlus

    ... of Pompe disease: Baby's First Test GeneReview: Glycogen Storage Disease Type II (Pompe Disease) Genetic Testing Registry: Glycogen storage disease type II, infantile Genetic Testing Registry: Glycogen ...

  15. Genetics Home Reference: Northern epilepsy

    MedlinePlus

    ... Understand Genetics Home Health Conditions Northern epilepsy Northern epilepsy Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Northern epilepsy is a genetic condition that causes recurrent seizures ( ...

  16. Genetics Home Reference: Waardenburg syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Waardenburg syndrome Waardenburg syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Waardenburg syndrome is a group of genetic conditions that can ...

  17. American Society of Human Genetics

    MedlinePlus

    ... Research Awards August 9, 2016 Media Advisory: American Society of Human Genetics 2016 Annual Meeting July 26, ... McKusick Leadership Award June 30, 2016 The American Society of Human Genetics, Incorporated 9650 Rockville Pike • Bethesda, ...

  18. Genetics Home Reference: Blau syndrome

    MedlinePlus

    ... inherited version of the disorder called early-onset sarcoidosis. Related Information What does it mean if a ... Genetic Testing Registry: Blau syndrome Genetic Testing Registry: Sarcoidosis, early-onset Merck Manual Consumer Version: Overview of ...

  19. Genetics Home Reference: Feingold syndrome

    MedlinePlus

    ... Brunner HG. Feingold syndrome: clinical review and genetic mapping. Am J Med Genet A. 2003 Nov 1; ... Brunner HG. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat ...

  20. Thoughts on Human Genetics Education.

    ERIC Educational Resources Information Center

    Epstein, Charles J.

    1980-01-01

    The director of the Birth Defects Center at the University of California at San Francisco addresses the reasons for developing good ways of teaching human genetics. Genetic counseling is discussed within the context of several case histories. (SA)

  1. Genetics Home Reference: Silver syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Silver syndrome Silver syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Silver syndrome belongs to a group of genetic disorders ...

  2. Education of nurses in genetics.

    PubMed Central

    Forsman, I

    1988-01-01

    The need for education of nurses in genetics was articulated more than 25 years ago. This article reviews the knowledge of practicing nurses about genetics as well as the content of genetics in nursing curricula. Implementation of federal legislation that mandated increased availability of genetic services and genetics education provided support for the examination of genetics content in curricula for health professionals, including nurses, and for the development of model programs to expand this content. Recent efforts to begin to develop a pool of nurse faculty who are well prepared in genetics will be described, as well as programs to provide the necessary content through continuing-education efforts. These efforts are expected to substantially improve the capability of nurses to contribute more effectively in the delivery of genetic services. PMID:3177390

  3. Genetic Testing and Eye Disease

    MedlinePlus

    ... a History of Eye Disease, Do You Need Genetic Testing? Mar. 23, 2012 Thanks to news coverage, ... of breast or ovarian cancer. Physicians now use genetic tests to decide on treatment for some types ...

  4. Genetic Features of Turner Syndrome

    MedlinePlus

    ... Current Studies Publications Lab Staff Contact Info Links Genetic Features Quick Navigation Introduction X-monosomy X-mosaicism ... Figure 3. X Chromosome Abnormalities Figure 4. Mosaicism Genetic Features of Turner Syndrome Turner syndrome is a ...

  5. Genetics Home Reference: diastrophic dysplasia

    MedlinePlus

    ... my area? Other Names for This Condition Diastrophic dwarfism DTD Related Information How are genetic conditions and ... 2 links) Health Topic: Bone Diseases Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  6. Genetics Home Reference: adiposis dolorosa

    MedlinePlus

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions adiposis dolorosa adiposis dolorosa Enable ...

  7. Genetics Home Reference: Canavan disease

    MedlinePlus

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Canavan disease Canavan disease Enable ...

  8. Genetics Home Reference: Carney complex

    MedlinePlus

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Carney complex Carney complex Enable ...

  9. Genetics Home Reference: cardiofaciocutaneous syndrome

    MedlinePlus

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome Enable ...

  10. Genetics Home Reference: Caffey disease

    MedlinePlus

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Caffey disease Caffey disease Enable ...

  11. Genetics Home Reference: frontometaphyseal dysplasia

    MedlinePlus

    ... bowed limbs, an abnormal curvature of the spine ( scoliosis ), and abnormalities of the fingers and hands. Characteristic ... and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. Am J Med Genet A. ...

  12. Genetics Home Reference: Winchester syndrome

    MedlinePlus

    ... proteins and other molecules that forms in the spaces between cells. These changes influence many cell activities ... What are the different ways in which a genetic condition can be inherited? More about Inheriting Genetic ...

  13. Genetics Home Reference: Fryns syndrome

    MedlinePlus

    ... nasal bridge , a thick nasal tip, a wide space between the nose and upper lip ( a long ... my family? What is the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency ...

  14. NCI Dictionary of Genetics Terms

    Cancer.gov

    A dictionary of more than 150 genetics-related terms written for healthcare professionals, developed to support the comprehensive, evidence-based, peer-reviewed PDQ cancer genetics information summaries.

  15. Selected Readings in Genetic Engineering

    ERIC Educational Resources Information Center

    Mertens, Thomas R.; Robinson, Sandra K.

    1973-01-01

    Describes different sources of readings for understanding issues and concepts of genetic engineering. Broad categories of reading materials are: concerns about genetic engineering; its background; procedures; and social, ethical and legal issues. References are listed. (PS)

  16. MedlinePlus: Genetic Testing

    MedlinePlus

    ... pros and cons of testing. NIH: National Human Genome Research Institute Start Here Frequently Asked Questions about Genetic Testing (National Human Genome Research Institute) Also in Spanish Genetic Testing (For ...

  17. Ginning Efficiency between Diverse Genetic Groups of Upland Cotton

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The rising cost of energy in ginning cotton necessitates the evaluation of a diverse array of germplasm, currently available, for improving ginning efficiency. The objective was to study genetic variability for net ginning energy requirement and speed of ginning among five diverse groups of upland c...

  18. Genetics in Relation to Biology.

    ERIC Educational Resources Information Center

    Stewart, J. Bird

    1987-01-01

    Claims that most instruction dealing with genetics is limited to sex education and personal hygiene. Suggests that the biology curriculum should begin to deal with other issues related to genetics, including genetic normality, prenatal diagnoses, race, and intelligence. Predicts these topics will begin to appear in British examination programs.…

  19. Genetics Home Reference: Kabuki syndrome

    MedlinePlus

    ... Hum Genet. 2012 Apr;57(4):223-7. doi: 10.1038/jhg.2012.28. Epub 2012 Mar ... Hum Genet. 2009 May;54(5):304-9. doi: 10.1038/jhg.2009.30. Epub 2009 Apr ... Genet. 2012 Jan 13;90(1):119-24. doi: 10.1016/j.ajhg.2011.11.021. Epub ...

  20. Advances in genetics. Volume 23

    SciTech Connect

    Caspari, E.W.; Scandalios, J.G.

    1985-01-01

    This book presents articles on genetics and the advances made in this field. Topics covered include the following: recovery, repair, and mutagenesis in Schizosaccharomyces pombe; gene transfer in fungi; Y chromosome function and spermatogenesis in Drosophila hydei; recent developments in population genetics; and genetics, cytology and evolution of Gossypium.

  1. Genetic Counseling in Mental Retardation.

    ERIC Educational Resources Information Center

    Bowen, Peter

    The task of the genetic counselor who identifies genetic causes of mental retardation and assists families to understand risk of recurrence is described. Considered are chromosomal genetic disorders such as Down's syndrome, inherited disorders such as Tay-Sachs disease, identification by testing the amniotic fluid cells (amniocentresis) in time…

  2. Moral Fantasy in Genetic Engineering.

    ERIC Educational Resources Information Center

    Boone, C. Keith

    1984-01-01

    Discusses the main ethical issues generated by the new genetics and suggests ways to think about them. Concerns include "playing God," violation of the natural order of the universe, and abuse of genetic technology. Critical distinctions for making difficult decisions about genetic engineering issues are noted. (DH)

  3. Characterizing the evolution of genetic variance using genetic covariance tensors.

    PubMed

    Hine, Emma; Chenoweth, Stephen F; Rundle, Howard D; Blows, Mark W

    2009-06-12

    Determining how genetic variance changes under selection in natural populations has proved to be a very resilient problem in evolutionary genetics. In the same way that understanding the availability of genetic variance within populations requires the simultaneous consideration of genetic variance in sets of functionally related traits, determining how genetic variance changes under selection in natural populations will require ascertaining how genetic variance-covariance (G) matrices evolve. Here, we develop a geometric framework using higher-order tensors, which enables the empirical characterization of how G matrices have diverged among populations. We then show how divergence among populations in genetic covariance structure can then be associated with divergence in selection acting on those traits using key equations from evolutionary theory. Using estimates of G matrices of eight male sexually selected traits from nine geographical populations of Drosophila serrata, we show that much of the divergence in genetic variance occurred in a single trait combination, a conclusion that could not have been reached by examining variation among the individual elements of the nine G matrices. Divergence in G was primarily in the direction of the major axes of genetic variance within populations, suggesting that genetic drift may be a major cause of divergence in genetic variance among these populations. PMID:19414471

  4. Genetic secrets: Protecting privacy and confidentiality in the genetic era

    SciTech Connect

    Rothstein, M.A.

    1998-07-01

    Few developments are likely to affect human beings more profoundly in the long run than the discoveries resulting from advances in modern genetics. Although the developments in genetic technology promise to provide many additional benefits, their application to genetic screening poses ethical, social, and legal questions, many of which are rooted in issues of privacy and confidentiality. The ethical, practical, and legal ramifications of these and related questions are explored in depth. The broad range of topics includes: the privacy and confidentiality of genetic information; the challenges to privacy and confidentiality that may be projected to result from the emerging genetic technologies; the role of informed consent in protecting the confidentiality of genetic information in the clinical setting; the potential uses of genetic information by third parties; the implications of changes in the health care delivery system for privacy and confidentiality; relevant national and international developments in public policies, professional standards, and laws; recommendations; and the identification of research needs.

  5. Reverse genetics of mononegavirales.

    PubMed

    Conzelmann, K K

    2004-01-01

    "Reverse genetics" or de novo synthesis of nonsegmented negative-sense RNA viruses (Mononegavirales) from cloned cDNA has become a reliable technique to study this group of medically important viruses. Since the first generation of a negative-sense RNA virus entirely from cDNA in 1994, reverse genetics systems have been established for members of most genera of the Rhabdo-, Paramyxo-, and Filoviridae families. These systems are based on intracellular transcription of viral full-length RNAs and simultaneous expression of viral proteins required to form the typical viral ribonucleoprotein complex (RNP). These systems are powerful tools to study all aspects of the virus life cycle as well as the roles of virus proteins in virus-host interplay and pathogenicity. In addition, recombinant viruses can be designed to have specific properties that make them attractive as biotechnological tools and live vaccines. PMID:15298166

  6. "Genetically Engineered" Nanoelectronics

    NASA Technical Reports Server (NTRS)

    Klimeck, Gerhard; Salazar-Lazaro, Carlos H.; Stoica, Adrian; Cwik, Thomas

    2000-01-01

    The quantum mechanical functionality of nanoelectronic devices such as resonant tunneling diodes (RTDs), quantum well infrared-photodetectors (QWIPs), quantum well lasers, and heterostructure field effect transistors (HFETs) is enabled by material variations on an atomic scale. The design and optimization of such devices requires a fundamental understanding of electron transport in such dimensions. The Nanoelectronic Modeling Tool (NEMO) is a general-purpose quantum device design and analysis tool based on a fundamental non-equilibrium electron transport theory. NEW was combined with a parallelized genetic algorithm package (PGAPACK) to evolve structural and material parameters to match a desired set of experimental data. A numerical experiment that evolves structural variations such as layer widths and doping concentrations is performed to analyze an experimental current voltage characteristic. The genetic algorithm is found to drive the NEMO simulation parameters close to the experimentally prescribed layer thicknesses and doping profiles. With such a quantitative agreement between theory and experiment design synthesis can be performed.

  7. Genetics of psoriatic arthritis.

    PubMed

    O'Rielly, Darren D; Rahman, Proton

    2014-10-01

    Spondyloarthritis (SpA) represents a group of inflammatory rheumatic diseases that cluster within families and possess overlapping clinical features. The pathogenesis of SpA encompasses a complex array of genetic, immunological and environmental factors. In this article, we will briefly review the genetics of PsA, and then focus on the genes that may be potentially linked either directly or indirectly to the immunopathology of the Th-17 pathway. The most consistent and dominant genetic effect of PsV and PsA is located on chromosome 6p21.3 within the major histocompatibility complex (MHC) region, which accounts for approximately one-third of the genetic contribution of PsV and PsA. To date, 36 genes have reached genome-wide significance, accounting for approximately 22% of psoriasis (PsV) heritability. Prominent genes identified via GWAS include HLA-Cw6, IL12B, IL23R, IL23A, TNIP1, TNFAIP3, LCE3B-LCE3C, TRAF3IP2, NFkBIA, FBXL19, TYK2, IFIH1, REL, and ERAP1. Genes identified in psoriatic arthritis (PsA) has largely echoed those in PsV and include HLA-B/C, HLA-B, IL-12B, IL-23R, TNIP1, TRAF3IP2, FBXL19, and REL. The lack of identified genetic susceptibility loci is largely attributed to the much smaller number of PsA patients and the greater clinical heterogeneity of PsA. Searching for different types of genetic variants such as small CNVs and/or insertions/deletions has also led to the identification of several genes with a function relative to PsV in particular including DEFB4, LCE3C_LCE3B, and IL-22 gene (exon 1). The candidate genes identified in PsV/PsA have highlighted pathways of critical importance to psoriatic disease including distinct signaling pathways comprised of barrier integrity, innate immune response and adaptive immune response, mediated primarily by Th-17 and Th-1 signalling. While GWAS studies have yielded great insights into the genes that contribute to the pathogenesis of PsV and PsA, replication in large cohorts, fine-mapping and resequencing

  8. Genetics of impulsive behaviour

    PubMed Central

    Bevilacqua, Laura; Goldman, David

    2013-01-01

    Impulsivity, defined as the tendency to act without foresight, comprises a multitude of constructs and is associated with a variety of psychiatric disorders. Dissecting different aspects of impulsive behaviour and relating these to specific neurobiological circuits would improve our understanding of the etiology of complex behaviours for which impulsivity is key, and advance genetic studies in this behavioural domain. In this review, we will discuss the heritability of some impulsivity constructs and their possible use as endophenotypes (heritable, disease-associated intermediate phenotypes). Several functional genetic variants associated with impulsive behaviour have been identified by the candidate gene approach and re-sequencing, and whole genome strategies can be implemented for discovery of novel rare and common alleles influencing impulsivity. Via deep sequencing an uncommon HTR2B stop codon, common in one population, was discovered, with implications for understanding impulsive behaviour in both humans and rodents and for future gene discovery. PMID:23440466

  9. Pediatric genetic ocular tumors

    PubMed Central

    Rouhani, Behnaz; Ramasubramanian, Aparna

    2014-01-01

    Pediatric genetic ocular tumors include malignancies like retinoblastoma and phakomatosis like neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and nevoid basal cell carcinoma syndrome. It is important to screen for ocular tumors both for visual prognosis and also for systemic implications. The phakomatosis comprise of multitude of benign tumors that are aysmptomatic but their detection can aid in the diagnosis of the syndrome. Retinoblastoma is the most common malignant intraocular tumor in childhood and with current treatment modalities, the survival is more than 95%. It is transmitted as an autosomal dominant fashion and hence the offsprings of all patients with the germline retinoblastoma need to be screened from birth. This review discusses the various pediatric genetic ocular tumors discussing the clinical manifestation, diagnosis and treatment.

  10. Advances in human genetics

    SciTech Connect

    Harris, H.; Hirschhorn, K.

    1993-01-01

    This book has five chapters covering peroxisomal diseases, X-linked immunodeficiencies, genetic mutations affecting human lipoproteins and their receptors and enzymes, genetic aspects of cancer, and Gaucher disease. The chapter on peroxisomes covers their discovery, structure, functions, disorders, etc. The chapter on X-linked immunodeficiencies discusses such diseases as agammaglobulinemia, severe combined immunodeficiency, Wiskott-Aldrich syndrome, animal models, linkage analysis, etc. Apolipoprotein formation, synthesis, gene regulation, proteins, etc. are the main focus of chapter 3. The chapter on cancer covers such topics as oncogene mapping and the molecular characterization of some recessive oncogenes. Gaucher disease is covered from its diagnosis, classification, and prevention, to its organ system involvement and molecular biology.

  11. Interpreting genetic risks.

    PubMed

    Pearn, J

    2016-01-01

    Prof. Peter Beighton has given a professional lifetime to helping patients and their families who have been afflicted by inherited disease. His clinical skills have brought certainty, confidence and support to those confronted with some of the most difficult decisions in life's progress. Prof. Beighton's research has led to the discovery of new syndromes and the elucidation of accurate genetic risks in many diseases. This in turn has empowered patients and their families to make informed decisions and has provided doctors with the scientific knowledge to help patients. On the occasion of this festschrift, I join with so many members of Peter's international professional family to pay tribute to his leadership and service - not only in medical genetics - but also in the broadest domains of healthcare. PMID:27245536

  12. Genetic basis of hyperlysinemia

    PubMed Central

    2013-01-01

    Background Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported. We aimed to better define the genetic basis of hyperlysinemia. Methods We collected the clinical, biochemical and molecular data in a cohort of 8 hyperlysinemia patients with distinct neurological features. Results We found novel causal mutations in AASS in all affected individuals, including 4 missense mutations, 2 deletions and 1 duplication. In two patients originating from one family, the hyperlysinemia was caused by a contiguous gene deletion syndrome affecting AASS and PTPRZ1. Conclusions Hyperlysinemia is caused by mutations in AASS. As hyperlysinemia is generally considered a benign metabolic variant, the more severe neurological disease course in two patients with a contiguous deletion syndrome may be explained by the additional loss of PTPRZ1. Our findings illustrate the importance of detailed biochemical and genetic studies in any hyperlysinemia patient. PMID:23570448

  13. Genetics of Cerebral Vasospasm

    PubMed Central

    Ladner, Travis R.; Zuckerman, Scott L.; Mocco, J

    2013-01-01

    Cerebral vasospasm (CV) is a major source of morbidity and mortality in aneurysmal subarachnoid hemorrhage (aSAH). It is thought that an inflammatory cascade initiated by extravasated blood products precipitates CV, disrupting vascular smooth muscle cell function of major cerebral arteries, leading to vasoconstriction. Mechanisms of CV and modes of therapy are an active area of research. Understanding the genetic basis of CV holds promise for the recognition and treatment for this devastating neurovascular event. In our review, we summarize the most recent research involving key areas within the genetics and vasospasm discussion: (1) Prognostic role of genetics—risk stratification based on gene sequencing, biomarkers, and polymorphisms; (2) Signaling pathways—pinpointing key inflammatory molecules responsible for downstream cellular signaling and altering these mediators to provide therapeutic benefit; and (3) Gene therapy and gene delivery—using viral vectors or novel protein delivery methods to overexpress protective genes in the vasospasm cascade. PMID:23691311

  14. The genetics of otosclerosis.

    PubMed

    Ealy, Megan; Smith, Richard J H

    2010-07-01

    Otosclerosis is a common form of conductive hearing loss with a prevalence of 0.3-0.4% in white adults. It is characterized by labyrinthine endochondral sclerosis which may invade the stapedio-vestibular joint and interfere with free motion of the stapes. Both environmental factors and genetic causes have been implicated in the disease process; however, the pathogenesis of otosclerosis still remains poorly understood. To date, several loci have been mapped in families segregating autosomal dominant otosclerosis although no disease-causing mutations have been identified. In contrast, several association studies have implicated specific genes but their effects on risk-of-disease are small. The goal of this paper is to review the genetics of otosclerosis and to provide insight into studies that could be performed to elucidate disease pathogenesis. PMID:19607896

  15. Genetics of diabetes complications.

    PubMed

    Doria, Alessandro

    2010-12-01

    A large body of evidence indicates that the risk for developing chronic diabetic complications is under the control of genetic factors. Previous studies using a candidate gene approach have uncovered a number of genetic loci that may shape this risk, such as the VEGF gene for retinopathy, the ELMO1 gene for nephropathy, and the ADIPOQ gene for coronary artery disease. Recently, a new window has opened on identifying these genes through genome-wide association studies. Such systematic approach has already led to the identification of a major locus for coronary artery disease on 9p21 as well three potential genes for nephropathy on 7p, 11p, and 13q. Further insights are expected from a broader application of this strategy. It is anticipated that the identification of these genes will provide novel insights on the etiology of diabetic complications, with crucial implications for the development of new drugs to prevent the adverse effects of diabetes. PMID:20835900

  16. Genetic Analysis in Neurology

    PubMed Central

    Pittman, Alan; Hardy, John

    2014-01-01

    In recent years, neurogenetics research had made some remarkable advances owing to the advent of genotyping arrays and next-generation sequencing. These improvements to the technology have allowed us to determine the whole-genome structure and its variation and to examine its effect on phenotype in an unprecedented manner. The identification of rare disease-causing mutations has led to the identification of new biochemical pathways and has facilitated a greater understanding of the etiology of many neurological diseases. Furthermore, genome-wide association studies have provided information on how common genetic variability impacts on the risk for the development of various complex neurological diseases. Herein, we review how these technological advances have changed the approaches being used to study the genetic basis of neurological disease and how the research findings will be translated into clinical utility. PMID:23571731

  17. On genetic map functions

    SciTech Connect

    Zhao, Hongyu; Speed, T.P.

    1996-04-01

    Various genetic map functions have been proposed to infer the unobservable genetic distance between two loci from the observable recombination fraction between them. Some map functions were found to fit data better than others. When there are more than three markers, multilocus recombination probabilities cannot be uniquely determined by the defining property of map functions, and different methods have been proposed to permit the use of map functions to analyze multilocus data. If for a given map function, there is a probability model for recombination that can give rise to it, then joint recombination probabilities can be deduced from this model. This provides another way to use map functions in multilocus analysis. In this paper we show that stationary renewal processes give rise to most of the map functions in the literature. Furthermore, we show that the interevent distributions of these renewal processes can all be approximated quite well by gamma distributions. 43 refs., 4 figs.

  18. Genetics of spermatogenic failure.

    PubMed

    Huang, W J; Yen, P H

    2008-01-01

    Spermatogenesis is an ongoing developmental process in adult testes that requires the coordinated expression of many genes. The genetic causes of spermatogenic failure in men remain largely unknown, though abnormalities in the sex chromosomes constitute a significant portion of them. In this review, we focus on 3 disorders that involve the sex chromosomes and are often screened in infertility clinics. These are Klinefelter syndrome, Y chromosome microdeletion, and XX male syndrome. We describe their prevalence, the associated phenotypes, and the molecular mechanisms underlying the disorders and discuss the difficulties in identifying the causal genes contributing to the spermatogenic defects. Currently, there are no effective therapies for the spermatogenic failure in the patients, and conception through assisted reproductive technology bears the risk of passing genetic abnormalities to the next generation. PMID:18987499

  19. The expanded genetic alphabet.

    PubMed

    Malyshev, Denis A; Romesberg, Floyd E

    2015-10-01

    All biological information, since the last common ancestor of all life on Earth, has been encoded by a genetic alphabet consisting of only four nucleotides that form two base pairs. Long-standing efforts to develop two synthetic nucleotides that form a third, unnatural base pair (UBP) have recently yielded three promising candidates, one based on alternative hydrogen bonding, and two based on hydrophobic and packing forces. All three of these UBPs are replicated and transcribed with remarkable efficiency and fidelity, and the latter two thus demonstrate that hydrogen bonding is not unique in its ability to underlie the storage and retrieval of genetic information. This Review highlights these recent developments as well as the applications enabled by the UBPs, including the expansion of the evolution process to include new functionality and the creation of semi-synthetic life that stores increased information. PMID:26304162

  20. Melanoma and genetics.

    PubMed

    Nelson, Andrew A; Tsao, Hensin

    2009-01-01

    As the incidence of malignant melanoma continues to increase and with the completion of the sequencing of the human genome, there have been increasing efforts to identify the "melanoma gene(s)." Although some patients and families have significantly increased risks due to genetic predisposition, most melanoma cases are sporadic and likely result from low to moderate risk genetic factors. This review focuses on the genes that cover the greatest risk of developing melanoma. It is important to remember that many--if not most--cases of melanoma are the result of undiscovered variants. The strongest genetic risk for the development of melanoma results from heritable alterations in cyclin-dependent kinase inhibitor 2A (CDKN2A) gene, which encodes two separate but related proteins, p16/INK4a and p14/ARF. These proteins help regulate cell division and apoptosis, both of which are necessary to maintain cellular homeostasis. Other important genes include CDK4/6 and retinoblastoma (RB1), which encode downstream proteins in the same pathway as p16/INK4a and p14/ARF. Finally, we discuss the relative importance of the melanocortin 1 receptor (MC1R) gene as a moderate risk factor for melanoma. Although great advances have been made in understanding the molecular basis and genetic predisposition of melanoma, many questions still remain to be answered. Someday soon, it will be possible to predict a patient's risk of melanoma by DNA analysis; however, it is important to reconcile our tremendous technologic capabilities with documented clinical utility. PMID:19095153

  1. Genetics of melanoma predisposition.

    PubMed

    Lin, J; Hocker, T L; Singh, M; Tsao, H

    2008-08-01

    Over the past 10 years, our understanding of melanoma at the molecular level has blossomed with the advent of genomic technologies. The enormous enthusiasm for the Human Genome Project is slowly being replaced by an even greater excitement for the unravelling of disease genomes, including melanoma. In this review, we will consider some of the clinical implications of these genetic findings for both diagnostics and therapeutics. PMID:18547303

  2. Genetics of OCD

    PubMed Central

    Nestadt, Gerald; Grados, Marco; Samuels, J F

    2009-01-01

    Synopsis OCD is a common debilitating condition affecting individuals from childhood through adult life. There is good evidence of genetic contribution to its etiology, but environmental risk factors also are likely to be involved. The condition probably has a complex pattern of inheritance. Molecular studies have identified several potentially relevant genes, but much additional research is needed to establish definitive causes of the condition. PMID:20159344

  3. Genetics of ankylosing spondylitis.

    PubMed

    Robinson, Philip C; Brown, Matthew A

    2014-01-01

    Ankylosing spondylitis (AS) is a chronic inflammatory arthritis that affects the spine and sacroiliac joints. It causes significant disability and is associated with a number of other features including peripheral arthritis, anterior uveitis, psoriasis and inflammatory bowel disease (IBD). Significant progress has been made in the genetics of AS have in the last five years, leading to new treatments in trial, and major leaps in understanding of the aetiopathogenesis of the disease. PMID:23916070

  4. Genetics of osteoporosis

    SciTech Connect

    Urano, Tomohiko; Inoue, Satoshi

    2014-09-19

    Highlights: • Single-nucleotide polymorphisms (SNPs) associated with osteoporosis were identified. • SNPs mapped close to or within VDR and ESR1 are associated with bone mineral density. • WNT signaling pathway plays a pivotal role in regulating bone mineral density. • Genetic studies will be useful for identification of new therapeutic targets. - Abstract: Osteoporosis is a skeletal disease characterized by low bone mineral density (BMD) and microarchitectural deterioration of bone tissue, which increases susceptibility to fractures. BMD is a complex quantitative trait with normal distribution and seems to be genetically controlled (in 50–90% of the cases), according to studies on twins and families. Over the last 20 years, candidate gene approach and genome-wide association studies (GWAS) have identified single-nucleotide polymorphisms (SNPs) that are associated with low BMD, osteoporosis, and osteoporotic fractures. These SNPs have been mapped close to or within genes including those encoding nuclear receptors and WNT-β-catenin signaling proteins. Understanding the genetics of osteoporosis will help identify novel candidates for diagnostic and therapeutic targets.

  5. Genetics of Allergic Diseases

    PubMed Central

    Ortiz, Romina A.; Barnes, Kathleen C.

    2015-01-01

    The allergic diseases are complex phenotypes for which a strong genetic basis has been firmly established. Genome-wide association studies (GWAS) has been widely employed in the field of allergic disease, and to date significant associations have been published for nearly 100 asthma genes/loci, in addition to multiple genes/loci for AD, AR and IgE levels, for which the overwhelming number of candidates are novel and have given a new appreciation for the role of innate as well as adaptive immune-response genes in allergic disease. A major outcome of GWAS in allergic disease has been the formation of national and international collaborations leading to consortia meta-analyses, and an appreciation for the specificity of genetic associations to sub-phenotypes of allergic disease. Molecular genetics has undergone a technological revolution, leading to next generation sequencing (NGS) strategies that are increasingly employed to hone in on the causal variants associated with allergic diseases. Unmet needs in the field include the inclusion of ethnically and racially diverse cohorts, and strategies for managing ‘big data’ that is an outcome of technological advances such as sequencing. PMID:25459575

  6. Genetics of Borrelia burgdorferi

    PubMed Central

    Brisson, Dustin; Drecktrah, Dan; Eggers, Christian H.; Samuels, D. Scott

    2013-01-01

    The spirochetes in the Borrelia burgdorferi sensu lato genospecies group cycle in nature between tick vectors and vertebrate hosts. The current assemblage of B. burgdorferi sensu lato, of which three species cause Lyme disease in humans, originated from a rapid species radiation that occurred near the origin of the clade. All of these species share a unique genome structure that is highly segmented and predominantly composed of linear replicons. One of the circular plasmids is a prophage that exists as several isoforms in each cell and can be transduced to other cells, likely contributing to an otherwise relatively anemic level of horizontal gene transfer, which nevertheless appears to be adequate to permit strong natural selection and adaptation in populations of B. burgdorferi. Although the molecular genetic toolbox is meager, several antibiotic-resistant mutants have been isolated, and the resistance alleles, as well as some exogenous genes, have been fashioned into markers to dissect gene function. Genetic studies have probed the role of the outer membrane lipoprotein OspC, which is maintained in nature by multiple niche polymorphisms and negative frequency-dependent selection. One of the most intriguing genetic systems in B. burgdorferi is vls recombination, which generates antigenic variation during infection of mammalian hosts. PMID:22974303

  7. Reprogenetics: Preimplantational genetics diagnosis

    PubMed Central

    Coco, Roberto

    2014-01-01

    Preimplantational Genetics Diagnosis (PGD) is requested by geneticists and reproductive specialists. Usually geneticists ask for PGD because one or both members of the couple have an increased genetic risk for having an affected offspring. On the other hand, reproductive specialists ask for embryo aneuploidy screening (PGS) to assures an euploid embryo transfer, with the purpose to achieve an ongoing pregnancy, although the couple have normal karyotypes. As embryonic aneuploidies are responsible for pre and post implantation abortions, it is logical to considerer that the screening of the embryonic aneuploidies prior to embryo transfer could improve the efficiency of the in vitro fertilization procedures. Nevertheless, it is still premature to affirm this until well-designed clinical trials were done, especially in women of advanced age where the rate of embryos with aneuploidies is much greater. Although the indications of PGD are similar to conventional prenatal diagnosis (PND), PGD has less ethical objections than the PND. As with the PGD/PGS results only unaffected embryos are transferred, both methods can avoid the decision to interrupt the pregnancy due to a genetic problem; this makes an important difference when compared to conventional prenatal diagnosis. PMID:24764761

  8. Darwin and Genetics

    PubMed Central

    Charlesworth, Brian; Charlesworth, Deborah

    2009-01-01

    Darwin's theory of natural selection lacked an adequate account of inheritance, making it logically incomplete. We review the interaction between evolution and genetics, showing how, unlike Mendel, Darwin's lack of a model of the mechanism of inheritance left him unable to interpret his own data that showed Mendelian ratios, even though he shared with Mendel a more mathematical and probabilistic outlook than most biologists of his time. Darwin's own “pangenesis” model provided a mechanism for generating ample variability on which selection could act. It involved, however, the inheritance of characters acquired during an organism's life, which Darwin himself knew could not explain some evolutionary situations. Once the particulate basis of genetics was understood, it was seen to allow variation to be passed intact to new generations, and evolution could then be understood as a process of changes in the frequencies of stable variants. Evolutionary genetics subsequently developed as a central part of biology. Darwinian principles now play a greater role in biology than ever before, which we illustrate with some examples of studies of natural selection that use DNA sequence data and with some recent advances in answering questions first asked by Darwin. PMID:19933231

  9. Genetic bases for glaucoma.

    PubMed

    Fuse, Nobuo

    2010-05-01

    Glaucoma is the leading cause of visual impairment and blindness throughout the world. Primary open angle glaucoma (POAG; MIM 137760) is the main type of glaucoma in most populations, and more than 20 genetic loci for POAG have been reported. Only three causative genes have been identified in these loci, viz. myocilin (MYOC), optineurin (OPTN), and WD repeat domain 36 (WDR36). However, mutations in these genes account for only a small percentage of the patients with POAG. Some of these glaucoma cases have a Mendelian inheritance pattern, and a considerable fraction of the cases result from a large number of variants in several genes each contributing small effects. Glaucoma is considered to be a common disease such as diabetes mellitus, coronary disease, Crohn disease, and several( )common cancers. The main technological approaches used to identify the genes associated with glaucoma are the candidate gene approach, linkage analysis, case-control association study, and genome-wide association study. Association studies have found about 27 genes related to POAG, but the glaucoma-causing effects of these genes need to be investigated in more detail. The current trend is to use case-control association studies or genome-wide association studies to map the genes associated with glaucoma. Such studies are expected to greatly advance our understanding of the genetic basis of glaucoma, and to provide information on the effectiveness of glaucoma therapy. This review gives an overview on the genetic aspects of glaucoma. PMID:20431268

  10. Darwin and genetics.

    PubMed

    Charlesworth, Brian; Charlesworth, Deborah

    2009-11-01

    Darwin's theory of natural selection lacked an adequate account of inheritance, making it logically incomplete. We review the interaction between evolution and genetics, showing how, unlike Mendel, Darwin's lack of a model of the mechanism of inheritance left him unable to interpret his own data that showed Mendelian ratios, even though he shared with Mendel a more mathematical and probabilistic outlook than most biologists of his time. Darwin's own "pangenesis" model provided a mechanism for generating ample variability on which selection could act. It involved, however, the inheritance of characters acquired during an organism's life, which Darwin himself knew could not explain some evolutionary situations. Once the particulate basis of genetics was understood, it was seen to allow variation to be passed intact to new generations, and evolution could then be understood as a process of changes in the frequencies of stable variants. Evolutionary genetics subsequently developed as a central part of biology. Darwinian principles now play a greater role in biology than ever before, which we illustrate with some examples of studies of natural selection that use DNA sequence data and with some recent advances in answering questions first asked by Darwin. PMID:19933231

  11. Genetics of inherited cardiomyopathy

    PubMed Central

    Jacoby, Daniel; McKenna, William J.

    2012-01-01

    During the past two decades, numerous disease-causing genes for different cardiomyopathies have been identified. These discoveries have led to better understanding of disease pathogenesis and initial steps in the application of mutation analysis in the evaluation of affected individuals and their family members. As knowledge of the genetic abnormalities, and insight into cellular and organ biology has grown, so has appreciation of the level of complexity of interaction between genotype and phenotype across disease states. What were initially thought to be one-to-one gene-disease correlates have turned out to display important relational plasticity dependent in large part on the genetic and environmental backgrounds into which the genes of interest express. The current state of knowledge with regard to genetics of cardiomyopathy represents a starting point to address the biology of disease, but is not yet developed sufficiently to supplant clinically based classification systems or, in most cases, to guide therapy to any significant extent. Future work will of necessity be directed towards elucidation of the biological mechanisms of both rare and common gene variants and environmental determinants of plasticity in the genotype–phenotype relationship with the ultimate goal of furthering our ability to identify, diagnose, risk stratify, and treat this group of disorders which cause heart failure and sudden death in the young. PMID:21810862

  12. Genetics of Congenital Cataract.

    PubMed

    Pichi, Francesco; Lembo, Andrea; Serafino, Massimiliano; Nucci, Paolo

    2016-01-01

    Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract. PMID:27043388

  13. Genetics of hepatobiliary diseases.

    PubMed

    Juran, Brian D; Lazaridis, Konstantinos N

    2006-05-01

    With the recent publication of the first human map of genetic variation (ie, Human Haplotype Map), genomic-based discoveries will likely affect not only the research bench but also the bedside. These advances will improve the understanding of the genetics of hepatobiliary diseases, resulting in better prevention measures and diagnosis as well as more effective therapies. Currently, alcoholic liver disease, nonalcoholic fatty liver disease, and symptomatic gallbladder stones affect a sizable portion of the population. On the other hand, chronic cholestatic liver diseases, hepatocellular carcinoma, and polycystic liver disease, although rare, shorten life expectancy and diminish the quality of life of patients. In the genomic era, we have the opportunity to start dissecting the susceptibility genetic variants of liver diseases. We are now in a position to begin elucidating the complex genotype/phenotype relationships of liver diseases with the anticipation to understand disease pathogenesis better. These efforts will require the application of genomic-based approaches in large well-organized translational studies in the diseases of interest. PMID:16678073

  14. Chicago Center for Jewish Genetic Disorders

    MedlinePlus

    ... Community Partners Norton & Elaine Sarnoff Center for Jewish Genetics Get Screened Genetics 101 The Screening Process FAQs Disorders on Screening Panel Judaism & Genetics Ashkenazi Genetic Traits Bloom’s Syndrome Canavan Disease Cystic ...

  15. Frequently Asked Questions about Genetic Disorders

    MedlinePlus

    ... used on this page Frequently Asked Questions About Genetic Disorders What are genetic disorders? A genetic disorder is a disease caused ... significant risk of developing the disease. . Geneticists group genetic disorders into three categories: Monogenetic disorders are caused ...

  16. How Are Genetic Conditions Treated or Managed?

    MedlinePlus

    ... are genetic conditions treated or managed? How are genetic conditions treated or managed? Many genetic disorders result ... out more about the treatment and management of genetic conditions: Links to information about the treatment of ...

  17. Clinical Genetic Testing in Gastroenterology

    PubMed Central

    Goodman, Russell P; Chung, Daniel C

    2016-01-01

    Rapid advances in genetics have led to an increased understanding of the genetic determinants of human disease, including many gastrointestinal (GI) disorders. Coupled with a proliferation of genetic testing services, this has resulted in a clinical landscape where commercially available genetic tests for GI disorders are now widely available. In this review, we discuss the current status of clinical genetic testing for GI illnesses, review the available testing options, and briefly discuss indications for and practical aspects of such testing. Our goal is to familiarize the practicing gastroenterologist with this rapidly changing and important aspect of clinical care. PMID:27124700

  18. Genetic Algorithms and Local Search

    NASA Technical Reports Server (NTRS)

    Whitley, Darrell

    1996-01-01

    The first part of this presentation is a tutorial level introduction to the principles of genetic search and models of simple genetic algorithms. The second half covers the combination of genetic algorithms with local search methods to produce hybrid genetic algorithms. Hybrid algorithms can be modeled within the existing theoretical framework developed for simple genetic algorithms. An application of a hybrid to geometric model matching is given. The hybrid algorithm yields results that improve on the current state-of-the-art for this problem.

  19. Genetic counseling: a transnational perspective.

    PubMed

    Elackatt, Niby J

    2013-12-01

    Although the basic goal and components of genetic counseling appears to be the same across the globe, judged by my experiences there are significant differences in the provision of genetic counseling services in Australasia (Australia and New Zealand) and India. There is poor recognition of the professional status of a genetic counselor in India at present. This may be partly because genetic counseling itself is a relatively new discipline within the medical field in India, although some types of genetic services and research have been conducted since 1960s. In this paper, I aim to provide insight from my personal transnational experiences. PMID:23677536

  20. Genetic transformation of major cereal crops.

    PubMed

    Ji, Qing; Xu, Xing; Wang, Kan

    2013-01-01

    Of the more than 50,000 edible plant species in the world, at least 10,000 species are cereal grains. Three major cereal crops, rice (Oryza sativa), maize (Zea mays), and wheat (Triticum sp.), provide two-thirds of the world's food energy intake. Although crop yields have improved tremendously thanks to technological advances in the past 50 years, population increases and climate changes continue to threaten the sustainability of current crop productions. Whereas conventional and marker-assisted breeding programs continue to play a major role in crop improvement, genetic engineering has drawn an intense worldwide interest from the scientific community. In the past decade, genetic transformation technologies have revolutionized agricultural practices and millions of hectares of biotech crops have been cultured. Because of its unique ability to insert well-characterized gene sequences into the plant genome, genetic engineering can also provide effective tools to address fundamental biological questions. This technology is expected to continue to be an indispensable approach for both basic and applied research. Here, we overview briefly the development of the genetic transformation in the top seven cereals, namely maize, rice, wheat, barley (Hordeum vulgare), sorghum (Sorghum sp.), oat (Avena sativa), and millets. The advantages and disadvantages of the two major transformation methods, Agrobacterium tumefaciens-mediated and biolistic methods, are also discussed. PMID:24166432

  1. Genetic & epigenetic approach to human obesity.

    PubMed

    Rao, K Rajender; Lal, Nirupama; Giridharan, N V

    2014-11-01

    Obesity is an important clinical and public health challenge, epitomized by excess adipose tissue accumulation resulting from an imbalance in energy intake and energy expenditure. It is a forerunner for a variety of other diseases such as type-2-diabetes (T2D), cardiovascular diseases, some types of cancer, stroke, hyperlipidaemia and can be fatal leading to premature death. Obesity is highly heritable and arises from the interplay of multiple genes and environmental factors. Recent advancements in Genome-wide association studies (GWAS) have shown important steps towards identifying genetic risks and identification of genetic markers for lifestyle diseases, especially for a metabolic disorder like obesity. According to the 12th Update of Human Obesity Gene Map there are 253 quantity trait loci (QTL) for obesity related phenotypes from 61 genome wide scan studies. Contribution of genetic propensity of individual ethnic and racial variations in obesity is an active area of research. Further, understanding its complexity as to how these variations could influence ones susceptibility to become or remain obese will lead us to a greater understanding of how obesity occurs and hopefully, how to prevent and treat this condition. In this review, various strategies adapted for such an analysis based on the recent advances in genome wide and functional variations in human obesity are discussed. PMID:25579139

  2. Genetic & epigenetic approach to human obesity

    PubMed Central

    Rao, K. Rajender; Lal, Nirupama; Giridharan, N.V.

    2014-01-01

    Obesity is an important clinical and public health challenge, epitomized by excess adipose tissue accumulation resulting from an imbalance in energy intake and energy expenditure. It is a forerunner for a variety of other diseases such as type-2-diabetes (T2D), cardiovascular diseases, some types of cancer, stroke, hyperlipidaemia and can be fatal leading to premature death. Obesity is highly heritable and arises from the interplay of multiple genes and environmental factors. Recent advancements in Genome-wide association studies (GWAS) have shown important steps towards identifying genetic risks and identification of genetic markers for lifestyle diseases, especially for a metabolic disorder like obesity. According to the 12th Update of Human Obesity Gene Map there are 253 quantity trait loci (QTL) for obesity related phenotypes from 61 genome wide scan studies. Contribution of genetic propensity of individual ethnic and racial variations in obesity is an active area of research. Further, understanding its complexity as to how these variations could influence ones susceptibility to become or remain obese will lead us to a greater understanding of how obesity occurs and hopefully, how to prevent and treat this condition. In this review, various strategies adapted for such an analysis based on the recent advances in genome wide and functional variations in human obesity are discussed. PMID:25579139

  3. A comprehensive review of genetics and genetic testing in azoospermia

    PubMed Central

    Hamada, Alaa J; Esteves, Sandro C; Agarwal, Ashok

    2013-01-01

    Azoospermia due to obstructive and non-obstructive mechanisms is a common manifestation of male infertility accounting for 10-15% of such cases. Known genetic factors are responsible for approximately 1/3 of cases of azoospermia. Nonetheless, at least 40% of cases are currently categorized as idiopathic and may be linked to unknown genetic abnormalities. It is recommended that various genetic screening tests are performed in azoospermic men, given that their results may play vital role in not only identifying the etiology but also in preventing the iatrogenic transmission of genetic defects to offspring via advanced assisted conception techniques. In the present review, we examine the current genetic information associated with azoospermia based on results from search engines, such as PUBMED, OVID, SCIENCE DIRECT and SCOPUS. We also present a critical appraisal of use of genetic testing in this subset of infertile patients. PMID:23503954

  4. Genetically Altered Plant Species

    NASA Technical Reports Server (NTRS)

    2003-01-01

    Researchers in Robert Ferl's lab at the University of Florida in Gainesville, genetically altered this Arabdopsis Thaliana (a brassica species) plant to learn how extreme environments, such as the low atmospheric pressure on Mars, affect plant genes. They inserted green fluorescent protein (GFP) near the on/off switches for anoxia and drought genes. When those genes were turned on after exposure to reduced atmospheric pressure, GFP was turned on as well, causing cells expressing those genes to glow green under a blue light. The natural fluorescence of chlorophyll accounts for the red glow.

  5. Genetics, Paleontology, and Macroevolution

    NASA Astrophysics Data System (ADS)

    Levinton, Jeffrey S.

    2001-08-01

    This expanded and updated second edition offers a comprehensive look at macroevolution and its underpinnings, with a primary emphasis on animal evolution. From a Neodarwinian point of view, the book integrates evolutionary processes at all levels to explain the diversity of animal life. It examines a wide range of topics including genetics, speciation, development, evolution, constructional and functional aspects of form, fossil lineages, and systematics, and --in a major new chapter--takes a hard look at the Cambrian explosion. The author delves into the age of molecular science and integrates important recent contributions made to our understanding of evolution.

  6. Genetic disorders in portraits.

    PubMed

    Emery, A E

    1996-12-18

    Many artists have depicted genetic disorders in portrait paintings. In some instances such disorders can be identified in self-portraits, most notably the tetralogy of Fallot in the Dutch painter Dick Ket, or in portraits of the famous, such as the Habsburg jaw in the Emperor Charles V. But it is in other portraits that most examples can be found, such as the different types of dwarfism depicted by Velázquez. A table listing over 70 examples is provided. PMID:8985496

  7. Genetic pediatric retinal diseases

    PubMed Central

    Say, Emil Anthony T.

    2014-01-01

    Hereditary pediatric retinal diseases are a diverse group of disorders with pathologies affecting different cellular structures or retinal development. Many can mimic typical pediatric retinal disease such as retinopathy of prematurity, vitreous hemorrhage, retinal detachment and cystoid macular edema. Multisystem involvement is frequently seen in hereditary pediatric retinal disease. A thorough history coupled with a good physical examination can oftentimes lead the ophthalmologist or pediatrician to the correct genetic test and correct diagnosis. In some instances, evaluation of parents or siblings may be required to determine familial involvement when the history is inconclusive or insufficient and clinical suspicion is high.

  8. Paraoxonase 1: genetics and activities during aging.

    PubMed

    Marchegiani, Francesca; Marra, Maurizio; Olivieri, Fabiola; Cardelli, Maurizio; James, Richard W; Boemi, Massimo; Franceschi, Claudio

    2008-02-01

    The increasing longevity of the population, one of the most important issues throughout the planet, is a very complex phenomenon (trait), likely resulting from a variety of environmental determinants interacting with and modulated by genetic mechanisms, mostly devoted to maintenance and repair. In fact, the genes involved in longevity impact upon basic processes such as inflammation, glucose and energy utilization, and oxidative stress. Based on the free radical theory of aging, in the past few years we have focused our attention on an enzyme that protects lipids from peroxidative damage-paraoxonase 1 (PON1). PON1 has been widely investigated, especially for its involvement in atherosclerosis and age-related diseases. In this review, we summarize data on the role played by PON1 on aging and its possible involvement in human longevity, focusing on the relationship between genetic polymorphisms and enzyme activity and its capability to counteract oxidative stress. PMID:18279029

  9. Genetically Encoded Voltage Indicators in Circulation Research

    PubMed Central

    Kaestner, Lars; Tian, Qinghai; Kaiser, Elisabeth; Xian, Wenying; Müller, Andreas; Oberhofer, Martin; Ruppenthal, Sandra; Sinnecker, Daniel; Tsutsui, Hidekazu; Miyawaki, Atsushi; Moretti, Alessandra; Lipp, Peter

    2015-01-01

    Membrane potentials display the cellular status of non-excitable cells and mediate communication between excitable cells via action potentials. The use of genetically encoded biosensors employing fluorescent proteins allows a non-invasive biocompatible way to read out the membrane potential in cardiac myocytes and other cells of the circulation system. Although the approaches to design such biosensors date back to the time when the first fluorescent-protein based Förster Resonance Energy Transfer (FRET) sensors were constructed, it took 15 years before reliable sensors became readily available. Here, we review different developments of genetically encoded membrane potential sensors. Furthermore, it is shown how such sensors can be used in pharmacological screening applications as well as in circulation related basic biomedical research. Potentials and limitations will be discussed and perspectives of possible future developments will be provided. PMID:26370981

  10. The media and behavioral genetics: Alternatives coexisting with addiction genetics

    PubMed Central

    Dingel, Molly J.; Ostergren, Jenny; McCormick, Jennifer B.; Hammer, Rachel; Koenig, Barbara A.

    2015-01-01

    To understand public discourse in the U.S. on genetic causation of behavioral disorders, we analyzed media representations of genetic research on addiction published between 1990 and 2010. We conclude first that the media simplistically represent biological bases of addiction and willpower as being mutually exclusive: behaviors are either genetically determined, or they are a choice. Second, most articles provide only cursory or no treatment of the environmental contribution. A media focus on genetics directs attention away from environmental factors. Rhetorically, media neglect the complexity underlying of the etiology of addiction and direct focus back toward individual causation and responsibility. PMID:26392644

  11. Genetic manipulation of francisella tularensis.

    PubMed

    Zogaj, Xhavit; Klose, Karl E

    2010-01-01

    Francisella tularensis is a facultative intracellular pathogen that causes the disease tularemia. F. tularensis subsp. tularensis causes the most severe disease in humans and has been classified as a Category A select agent and potential bioweapon. There is currently no vaccine approved for human use, making genetic manipulation of this organism critical to unraveling the genetic basis of pathogenesis and developing countermeasures against tularemia. The development of genetic techniques applicable to F. tularensis have lagged behind those routinely used for other bacteria, primarily due to lack of research and the restricted nature of the biocontainment required for studying this pathogen. However, in recent years, genetic techniques, such as transposon mutagenesis and targeted gene disruption, have been developed, that have had a dramatic impact on our understanding of the genetic basis of F. tularensis virulence. In this review, we describe some of the methods developed for genetic manipulation of F. tularensis. PMID:21607086

  12. Genetic Manipulation of Francisella Tularensis

    PubMed Central

    Zogaj, Xhavit; Klose, Karl E.

    2011-01-01

    Francisella tularensis is a facultative intracellular pathogen that causes the disease tularemia. F. tularensis subsp. tularensis causes the most severe disease in humans and has been classified as a Category A select agent and potential bioweapon. There is currently no vaccine approved for human use, making genetic manipulation of this organism critical to unraveling the genetic basis of pathogenesis and developing countermeasures against tularemia. The development of genetic techniques applicable to F. tularensis have lagged behind those routinely used for other bacteria, primarily due to lack of research and the restricted nature of the biocontainment required for studying this pathogen. However, in recent years, genetic techniques, such as transposon mutagenesis and targeted gene disruption, have been developed, that have had a dramatic impact on our understanding of the genetic basis of F. tularensis virulence. In this review, we describe some of the methods developed for genetic manipulation of F. tularensis. PMID:21607086

  13. Genetic Dissection of Neural Circuits

    PubMed Central

    Luo, Liqun; Callaway, Edward M.; Svoboda, Karel

    2009-01-01

    Understanding the principles of information processing in neural circuits requires systematic characterization of the participating cell types and their connections, and the ability to measure and perturb their activity. Genetic approaches promise to bring experimental access to complex neural systems, including genetic stalwarts such as the fly and mouse, but also to nongenetic systems such as primates. Together with anatomical and physiological methods, cell-type-specific expression of protein markers and sensors and transducers will be critical to construct circuit diagrams and to measure the activity of genetically defined neurons. Inactivation and activation of genetically defined cell types will establish causal relationships between activity in specific groups of neurons, circuit function, and animal behavior. Genetic analysis thus promises to reveal the logic of the neural circuits in complex brains that guide behaviors. Here we review progress in the genetic analysis of neural circuits and discuss directions for future research and development. PMID:18341986

  14. Genetic specificity of face recognition

    PubMed Central

    Shakeshaft, Nicholas G.; Plomin, Robert

    2015-01-01

    Specific cognitive abilities in diverse domains are typically found to be highly heritable and substantially correlated with general cognitive ability (g), both phenotypically and genetically. Recent twin studies have found the ability to memorize and recognize faces to be an exception, being similarly heritable but phenotypically substantially uncorrelated both with g and with general object recognition. However, the genetic relationships between face recognition and other abilities (the extent to which they share a common genetic etiology) cannot be determined from phenotypic associations. In this, to our knowledge, first study of the genetic associations between face recognition and other domains, 2,000 18- and 19-year-old United Kingdom twins completed tests assessing their face recognition, object recognition, and general cognitive abilities. Results confirmed the substantial heritability of face recognition (61%), and multivariate genetic analyses found that most of this genetic influence is unique and not shared with other cognitive abilities. PMID:26417086

  15. Multiple sclerosis genetics is dead.

    PubMed

    Hawkes, Christopher H

    2013-07-01

    This review addresses several areas of contention related to the genetic theory for multiple sclerosis (MS). It is argued (a) that the concept of MS as a 'complex disease' has little value, (b) just because a disorder is found in multiple families, it is not necessarily genetically based, (c) although twin studies are claimed to show that MS is '30% genetically based' this concept derives from widely varying data, (d) although genome-wide association studies (GWAS) suggest the presence of several MS related genes this has yet to be proven, (e) monozygotic twins discordant for MS should have a different genetic sequence if the disorder has a genetic basis but data so far suggest this may not be correct and (f) epigenetics or epistasis are contentious topics and may not provide the answer. It is concluded that the role of genetics in MS etiology may be overstated and that attention should now be devoted to environmental causes. PMID:25877721

  16. Genetic influences on brain structure.

    PubMed

    Thompson, P M; Cannon, T D; Narr, K L; van Erp, T; Poutanen, V P; Huttunen, M; Lönnqvist, J; Standertskjöld-Nordenstam, C G; Kaprio, J; Khaledy, M; Dail, R; Zoumalan, C I; Toga, A W

    2001-12-01

    Here we report on detailed three-dimensional maps revealing how brain structure is influenced by individual genetic differences. A genetic continuum was detected in which brain structure was increasingly similar in subjects with increasing genetic affinity. Genetic factors significantly influenced cortical structure in Broca's and Wernicke's language areas, as well as frontal brain regions (r2(MZ) > 0.8, p < 0.05). Preliminary correlations were performed suggesting that frontal gray matter differences may be linked to Spearman's g, which measures successful test performance across multiple cognitive domains (p < 0.05). These genetic brain maps reveal how genes determine individual differences, and may shed light on the heritability of cognitive and linguistic skills, as well as genetic liability for diseases that affect the human cortex. PMID:11694885

  17. Genetic counseling and the pediatrician.

    PubMed

    Bartsocas, C S

    1978-01-01

    The assistance of the pediatrician, following diagnosis of a child with a genetic disorder, towards his family consists today in giving genetic counseling for prevention of recurrence in future pregnancies. The process of genetic counseling, once the right diagnosis is made, should not be difficult as concerns Mendelian inheritance. It is well known that several chromosomal disorders follow the rules of Mendelian inheritance. The theory of polygenic or multifactorial inheritance may create problems in the accurate estimation of risks. An effort is made to discover the mechanisms of genetic "predisposition" or the adverse environmental factors, in order to minimize the occurrence of such disorders. An important tool in prevention of several genetic disorders, which should be mentioned in genetic counseling, is prenatal diagnosis. PMID:155240

  18. Genetic aspects of pancreatitis.

    PubMed

    Whitcomb, David C

    2010-01-01

    Acute pancreatitis and chronic pancreatitis are complex inflammatory disorders of the pancreas with unpredictable severity, complications, and clinical courses. Growing evidence for genetic risk and modifying factors, plus strong evidence that only a minority of patients with these disorders are heavy alcohol drinkers, has revolutionized our concept of these diseases. Once considered a self-inflicted injury, pancreatitis is now recognized as a complex inflammatory condition like inflammatory bowel disease. Genetic linkage and candidate gene studies have identified six pancreas-targeting factors that are associated with changes in susceptibility to acute and/or chronic pancreatitis, including cationic trypsinogen (PRSS1), anionic trypsinogen (PRSS2), serine protease inhibitor Kazal 1 (SPINK1), cystic fibrosis transmembrane conductance regulator (CFTR), chymotrypsinogen C (CTRC) and calcium-sensing receptor (CASR). Patients with mutations in these genes are at increased risk of pancreatitis caused by a variety of stresses including hyperlipidemia and hypercalcemia. Multiple studies are reporting new polymorphisms, as well as complex gene x gene and gene x environmental interactions. PMID:20059346

  19. Applied equine genetics

    PubMed Central

    FINNO, C. J.; BANNASCH, D. L.

    2015-01-01

    Summary Genome sequencing of the domestic horse and subsequent advancements in the field of equine genomics have led to an explosion in the development of tools for mapping traits and diseases and evaluating gene expression. The objective of this review is to discuss the current progress in the field of equine genomics, with specific emphasis on assembly and analysis of the reference sequence and subsequent sequencing of a Quarter Horse mare; the genomic tools currently available to researchers and their implications in genomic investigations in the horse; the genomics of Mendelian and non-Mendelian traits; the genomics of performance traits and considerations regarding genetic testing in the horse. The whole-genome sequencing of a Quarter Horse mare has provided additional variants within the equine genome that extend past single nucleotide polymorphisms to include insertions/deletions and copy number variants. Equine single nucleotide polymorphism arrays have allowed for the investigation of both simple and complex genetic traits while DNA microarrays have provided a tool for examining gene expression across various tissues and with certain disease conditions. Recently, next-generation sequencing has become more affordable and both whole-genome DNA sequencing and transcriptome-wide RNA sequencing are methodologies that are being applied to equine genomic research. Research in the field of equine genomics continues to expand rapidly as the cost of genotyping and sequencing decreases, resulting in a need for quality bioinformatics software and expertise to appropriately handle both the size and complexity of these data. PMID:24802051

  20. Genetically engineered plasmonic nanoarrays.

    PubMed

    Forestiere, Carlo; Pasquale, Alyssa J; Capretti, Antonio; Miano, Giovanni; Tamburrino, Antonello; Lee, Sylvanus Y; Reinhard, Björn M; Dal Negro, Luca

    2012-04-11

    In the present Letter, we demonstrate how the design of metallic nanoparticle arrays with large electric field enhancement can be performed using the basic paradigm of engineering, namely the optimization of a well-defined objective function. Such optimization is carried out by coupling a genetic algorithm with the analytical multiparticle Mie theory. General design criteria for best enhancement of electric fields are obtained, unveiling the fundamental interplay between the near-field plasmonic and radiative photonic coupling. Our optimization approach is experimentally validated by surface-enhanced Raman scattering measurements, which demonstrate how genetically optimized arrays, fabricated using electron beam lithography, lead to order of ten improvement of Raman enhancement over nanoparticle dimer antennas, and order of one hundred improvement over optimal nanoparticle gratings. A rigorous design of nanoparticle arrays with optimal field enhancement is essential to the engineering of numerous nanoscale optical devices such as plasmon-enhanced biosensors, photodetectors, light sources and more efficient nonlinear optical elements for on chip integration. PMID:22381056

  1. Genetic basis of cohesinopathies

    PubMed Central

    Barbero, José L

    2013-01-01

    Cohesin is a ring-form multifunctional protein complex, which was discovered during a search for molecules that keep sister chromatids together during segregation of chromosomes during cell division. In the past decade, a large number of results have also demonstrated a need for the cohesin complex in other crucial events in the life cycle of the cell, including DNA duplication, heterochromatin formation, DNA double-strand break repair, and control of gene expression. The dynamics of the cohesin ring are modulated by a number of accessory and regulatory proteins, known as cohesin cofactors. Loss of function of the cohesin complex is incompatible with life; however, mutations in the genes encoding for cohesin subunits and/or cohesin cofactors, which have very little or a null effect on chromosome segregation, represent a newly recognized class of human genetic disorders known as cohesinopathies. A number of genetic, biochemical, and clinical approaches, and importantly, animal models, can help us to determine the underlying mechanisms for these human diseases. PMID:23882154

  2. Genetic code for sine

    NASA Astrophysics Data System (ADS)

    Abdullah, Alyasa Gan; Wah, Yap Bee

    2015-02-01

    The computation of the approximate values of the trigonometric sines was discovered by Bhaskara I (c. 600-c.680), a seventh century Indian mathematician and is known as the Bjaskara's I's sine approximation formula. The formula is given in his treatise titled Mahabhaskariya. In the 14th century, Madhava of Sangamagrama, a Kerala mathematician astronomer constructed the table of trigonometric sines of various angles. Madhava's table gives the measure of angles in arcminutes, arcseconds and sixtieths of an arcsecond. The search for more accurate formulas led to the discovery of the power series expansion by Madhava of Sangamagrama (c.1350-c. 1425), the founder of the Kerala school of astronomy and mathematics. In 1715, the Taylor series was introduced by Brook Taylor an English mathematician. If the Taylor series is centered at zero, it is called a Maclaurin series, named after the Scottish mathematician Colin Maclaurin. Some of the important Maclaurin series expansions include trigonometric functions. This paper introduces the genetic code of the sine of an angle without using power series expansion. The genetic code using square root approach reveals the pattern in the signs (plus, minus) and sequence of numbers in the sine of an angle. The square root approach complements the Pythagoras method, provides a better understanding of calculating an angle and will be useful for teaching the concepts of angles in trigonometry.

  3. Genetics of Hypogonadotropic Hypogonadism.

    PubMed

    Topaloglu, A Kemal; Kotan, L Damla

    2016-01-01

    Hypogonadotropic hypogonadism (HH) often manifests as pubertal delay. A considerable proportion of cases of HH is due to genetic mutations. Recognizing those mutated genes and associated phenotypes may improve our diagnostic capabilities. GNRHR and TACR3 should be the first two genes to be screened in a clinical setting for equivocal cases such as constitutional delay in puberty versus idiopathic HH. In Kallmann syndrome (KS), according to the presence of certain accompanying clinical features, genetic screening for particular gene(s) may be prioritized: synkinesia (KAL1), dental agenesis (FGF8/FGFR1), bony anomalies (FGF8/FGFR1), and hearing loss (CHD7, SOX10). FEZF1 has recently been added to the growing list of KS genes. Also, discovery of mutations in KISS1/KISS1R and TAC3/TACR3 in kisspeptin and neurokinin B signaling, respectively, has provided major advancements in our understanding of the biology of the gonadotropin-releasing hormone pulse generator. Identification of further causative mutations accounting for the HH phenotype, which is now more feasible with the increasing popularity of whole exome sequencing, may provide deeper insight into the biology of the hypothalamic-pituitary-gonadal axis. PMID:26680571

  4. Genetics and plant development.

    PubMed

    Prunet, Nathanaël; Meyerowitz, Elliot M

    2016-01-01

    There are only three grand theories in biology: the theory of the cell, the theory of the gene, and the theory of evolution. Two of these, the cell and gene theories, originated in the study of plants, with the third resulting in part from botanical considerations as well. Mendel's elucidation of the rules of inheritance was a result of his experiments on peas. The rediscovery of Mendel's work in 1900 was by the botanists de Vries, Correns, and Tschermak. It was only in subsequent years that animals were also shown to have segregation of genetic elements in the exact same manner as had been shown in plants. The story of developmental biology is different - while the development of plants has long been studied, the experimental and genetic approaches to developmental mechanism were developed via experiments on animals, and the importance of genes in development (e.g., Waddington, 1940) and their use for understanding developmental mechanisms came to botanical science much later - as late as the 1980s. PMID:27238367

  5. Genetics of SCID

    PubMed Central

    2010-01-01

    Human SCID (Severe Combined Immunodeficiency) is a prenatal disorder of T lymphocyte development, that depends on the expression of numerous genes. The knowledge of the genetic basis of SCID is essential for diagnosis (e.g., clinical phenotype, lymphocyte profile) and treatment (e.g., use and type of pre-hematopoietic stem cell transplant conditioning). Over the last years novel genetic defects causing SCID have been discovered, and the molecular and immunological mechanisms of SCID have been better characterized. Distinct forms of SCID show both common and peculiar (e.g., absence or presence of nonimmunological features) aspects, and they are currently classified into six groups according to prevalent pathophysiological mechanisms: impaired cytokine-mediated signaling; pre-T cell receptor defects; increased lymphocyte apoptosis; defects in thymus embryogenesis; impaired calcium flux; other mechanisms. This review is the updated, extended and largely modified translation of the article "Cossu F: Le basi genetiche delle SCID", originally published in Italian language in the journal "Prospettive in Pediatria" 2009, 156:228-238. PMID:21078154

  6. Genetic circuit design automation.

    PubMed

    Nielsen, Alec A K; Der, Bryan S; Shin, Jonghyeon; Vaidyanathan, Prashant; Paralanov, Vanya; Strychalski, Elizabeth A; Ross, David; Densmore, Douglas; Voigt, Christopher A

    2016-04-01

    Computation can be performed in living cells by DNA-encoded circuits that process sensory information and control biological functions. Their construction is time-intensive, requiring manual part assembly and balancing of regulator expression. We describe a design environment, Cello, in which a user writes Verilog code that is automatically transformed into a DNA sequence. Algorithms build a circuit diagram, assign and connect gates, and simulate performance. Reliable circuit design requires the insulation of gates from genetic context, so that they function identically when used in different circuits. We used Cello to design 60 circuits forEscherichia coli(880,000 base pairs of DNA), for which each DNA sequence was built as predicted by the software with no additional tuning. Of these, 45 circuits performed correctly in every output state (up to 10 regulators and 55 parts), and across all circuits 92% of the output states functioned as predicted. Design automation simplifies the incorporation of genetic circuits into biotechnology projects that require decision-making, control, sensing, or spatial organization. PMID:27034378

  7. Biology, Genetics, and Environment

    PubMed Central

    Wall, Tamara L.; Luczak, Susan E.; Hiller-Sturmhöfel, Susanne

    2016-01-01

    Gene variants encoding several of the alcohol-metabolizing enzymes, alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH), are among the largest genetic associations with risk for alcohol dependence. Certain genetic variants (i.e., alleles)—particularly the ADH1B*2, ADH1B*3, ADH1C*1, and ALDH2*2 alleles—have been associated with lower rates of alcohol dependence. These alleles may lead to an accumulation of acetaldehyde during alcohol metabolism, which can result in heightened subjective and objective effects. The prevalence of these alleles differs among ethnic groups; ADH1B*2 is found frequently in northeast Asians and occasionally Caucasians, ADH1B*3 is found predominantly in people of African ancestry, ADH1C*1 varies substantially across populations, and ALDH2*2 is found almost exclusively in northeast Asians. Differences in the prevalence of these alleles may account at least in part for ethnic differences in alcohol consumption and alcohol use disorder (AUD). However, these alleles do not act in isolation to influence the risk of AUD. For example, the gene effects of ALDH2*2 and ADH1B*2 seem to interact. Moreover, other factors have been found to influence the extent to which these alleles affect a person’s alcohol involvement, including developmental stage, individual characteristics (e.g., ethnicity, antisocial behavior, and behavioral undercontrol), and environmental factors (e.g., culture, religion, family environment, and childhood adversity). PMID:27163368

  8. Genetic epidemiology of melanoma.

    PubMed

    Ribero, Simone; Glass, Dan; Bataille, Veronique

    2016-08-01

    The field of melanoma genetics is moving at great pace with new platforms to investigate single nucleotide polymorphism, genome sequencing, gene expression, and methylation. Melanoma incidence is still rising mainly because of screening campaigns, which has increased the number of reported melanomas. However, mortality due to melanoma is not decreasing. Many cutaneous phenotypic risk factors have been linked to melanoma, but the association with UV radiation is very complex. The level of vitamin D affects both the risk of melanoma and prognosis, but more studies are needed. The genetics of melanoma involves genes involved in pigmentation and naevi, as well as genes involved in the cell cycle and senescence, which have been identified via genome-wide association studies over the last 10 years. One area of research highly relevant to melanoma is telomere biology with further links to reduced senescence. At the somatic level, new gene pathways are being explored with many new therapeutic targets, and boosting immune responses against the tumour appears to offer the best long-term outcome. PMID:27436815

  9. The Genetics of Dystonias

    PubMed Central

    LeDoux, Mark S.

    2016-01-01

    Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements or abnormal postures. Dystonia is also a clinical sign that can be the presenting or prominent manifestation of many neurodegenerative and neuro-metabolic disorders. Etiological categories include primary dystonia, secondary dystonia, heredodegenerative diseases with dystonia, and dystonia plus. Primary dystonia includes syndromes in which dystonia is the sole phenotypic manifestation with the exception that tremor can be present as well. Most primary dystonia begins in adults, and approximately 10% of probands report one or more affected family members. Many cases of childhood- and adolescent-onset dystonia are due to mutations in TOR1A and THAP1. Mutations in THAP1 and CIZ1 have been associated with sporadic and familial adult-onset dystonia. Although significant recent progress had been made in defining the genetic basis for most of the dystonia-plus and heredodegenerative diseases with dystonia, a major gap remains in understanding the genetic etiologies for most cases of adult-onset primary dystonia. Common themes in the cellular biology of dystonia include G1/S cell cycle control, monoaminergic neurotransmission, mitochondrial dysfunction, and the neuronal stress response. PMID:22989765

  10. The evolutionary genetics of canalization.

    PubMed

    Flatt, Thomas

    2005-09-01

    Evolutionary genetics has recently made enormous progress in understanding how genetic variation maps into phenotypic variation. However why some traits are phenotypically invariant despite apparent genetic and environmental changes has remained a major puzzle. In the 1940s, Conrad Hal Waddington coined the concept and term "canalization" to describe the robustness of phenotypes to perturbation; a similar concept was proposed by Waddington's contemporary Ivan Ivanovich Schmalhausen. This paper reviews what has been learned about canalization since Waddington. Canalization implies that a genotype's phenotype remains relatively invariant when individuals of a particular genotype are exposed to different environments (environmental canalization) or when individuals of the same single- or multilocus genotype differ in their genetic background (genetic canalization). Consequently, genetic canalization can be viewed as a particular kind of epistasis, and environmental canalization and phenotypic plasticity are two aspects of the same phenomenon. Canalization results in the accumulation of phenotypically cryptic genetic variation, which can be released after a "decanalizing" event. Thus, canalized genotypes maintain a cryptic potential for expressing particular phenotypes, which are only uncovered under particular decanalizing environmental or genetic conditions. Selection may then act on this newly released genetic variation. The accumulation of cryptic genetic variation by canalization may therefore increase evolvability at the population level by leading to phenotypic diversification under decanalizing conditions. On the other hand, under canalizing conditions, a major part of the segregating genetic variation may remain phenotypically cryptic; canalization may therefore, at least temporarily, constrain phenotypic evolution. Mechanistically, canalization can be understood in terms of transmission patterns, such as epistasis, pleiotropy, and genotype by environment

  11. Clinical Genetic Testing in Epilepsy

    PubMed Central

    2015-01-01

    New technologies for mutation detection in the human genome have greatly increased our understanding of epilepsy genetics. Application of genomic technologies in the clinical setting allows for more efficient genetic diagnosis in some patients; therefore, it is important to understand the types of tests available and the types of mutations that can be detected. Making a genetic diagnosis improves overall patient care by enhancing prognosis and recurrence risk counseling and informing treatment decisions. PMID:26316867

  12. Point Genetics: A New Concept to Assess Neutron Kinetics

    SciTech Connect

    Klein Meulekamp, R.; Kuijper, J.C.; Schikorr, M.

    2005-02-15

    Point genetic equations are introduced. These equations are similar to the well-known point kinetic equations but characterize and couple individual fission generations in subcritical systems. Point genetic equations are able to describe dynamic behavior of source-driven subcritical systems on shorter timescales than is possible with point kinetic equations. Point genetic parameters can be used as a first-order characterization of the system and can be calculated using standard Monte Carlo techniques; the implementation in other calculational schemes seems straightforward. A Godiva sphere is considered to show the applicability of the point genetic equations in describing a detector response on short timescales. For this system the point genetic parameters are calculated and compared with reference calculations. Typical dynamic source behavior is considered by studying a transient in which the neutron source energy decreases from 20 to 1 MeV. For all cases studied, the point genetic equations are compared to full space-time kinetic solutions, and it is shown that point genetics performs well.

  13. Plant genetics, sustainable agriculture and global food security.

    PubMed

    Ronald, Pamela

    2011-05-01

    The United States and the world face serious societal challenges in the areas of food, environment, energy, and health. Historically, advances in plant genetics have provided new knowledge and technologies needed to address these challenges. Plant genetics remains a key component of global food security, peace, and prosperity for the foreseeable future. Millions of lives depend upon the extent to which crop genetic improvement can keep pace with the growing global population, changing climate, and shrinking environmental resources. While there is still much to be learned about the biology of plant-environment interactions, the fundamental technologies of plant genetic improvement, including crop genetic engineering, are in place, and are expected to play crucial roles in meeting the chronic demands of global food security. However, genetically improved seed is only part of the solution. Such seed must be integrated into ecologically based farming systems and evaluated in light of their environmental, economic, and social impacts-the three pillars of sustainable agriculture. In this review, I describe some lessons learned, over the last decade, of how genetically engineered crops have been integrated into agricultural practices around the world and discuss their current and future contribution to sustainable agricultural systems. PMID:21546547

  14. Plant Genetics, Sustainable Agriculture and Global Food Security

    PubMed Central

    Ronald, Pamela

    2011-01-01

    The United States and the world face serious societal challenges in the areas of food, environment, energy, and health. Historically, advances in plant genetics have provided new knowledge and technologies needed to address these challenges. Plant genetics remains a key component of global food security, peace, and prosperity for the foreseeable future. Millions of lives depend upon the extent to which crop genetic improvement can keep pace with the growing global population, changing climate, and shrinking environmental resources. While there is still much to be learned about the biology of plant–environment interactions, the fundamental technologies of plant genetic improvement, including crop genetic engineering, are in place, and are expected to play crucial roles in meeting the chronic demands of global food security. However, genetically improved seed is only part of the solution. Such seed must be integrated into ecologically based farming systems and evaluated in light of their environmental, economic, and social impacts—the three pillars of sustainable agriculture. In this review, I describe some lessons learned, over the last decade, of how genetically engineered crops have been integrated into agricultural practices around the world and discuss their current and future contribution to sustainable agricultural systems. PMID:21546547

  15. Genetic comorbidities in Parkinson's disease

    PubMed Central

    Nalls, Mike A.; Saad, Mohamad; Noyce, Alastair J.; Keller, Margaux F.; Schrag, Anette; Bestwick, Jonathan P.; Traynor, Bryan J.; Gibbs, J. Raphael; Hernandez, Dena G.; Cookson, Mark R.; Morris, Huw R.; Williams, Nigel; Gasser, Thomas; Heutink, Peter; Wood, Nick; Hardy, John; Martinez, Maria; Singleton, Andrew B.

    2014-01-01

    Parkinson's disease (PD) has a number of known genetic risk factors. Clinical and epidemiological studies have suggested the existence of intermediate factors that may be associated with additional risk of PD. We construct genetic risk profiles for additional epidemiological and clinical factors using known genome-wide association studies (GWAS) loci related to these specific phenotypes to estimate genetic comorbidity in a systematic review. We identify genetic risk profiles based on GWAS variants associated with schizophrenia and Crohn's disease as significantly associated with risk of PD. Conditional analyses adjusting for SNPs near loci associated with PD and schizophrenia or PD and Crohn's disease suggest that spatially overlapping loci associated with schizophrenia and PD account for most of the shared comorbidity, while variation outside of known proximal loci shared by PD and Crohn's disease accounts for their shared genetic comorbidity. We examine brain methylation and expression signatures proximal to schizophrenia and Crohn's disease loci to infer functional changes in the brain associated with the variants contributing to genetic comorbidity. We compare our results with a systematic review of epidemiological literature, while the findings are dissimilar to a degree; marginal genetic associations corroborate the directionality of associations across genetic and epidemiological data. We show a strong genetically defined level of comorbidity between PD and Crohn's disease as well as between PD and schizophrenia, with likely functional consequences of associated variants occurring in brain. PMID:24057672

  16. Genetic evaluation of male infertility

    PubMed Central

    2014-01-01

    Men with severe oligospermia (<5 million sperm/mL ejaculate fluid) or azoospermia should receive genetic testing to clarify etiology of male infertility prior to treatment. Categorization by obstructive azoospermia (OA) or non-obstructive azoospermia (NOA) is critical since genetic testing differs for the former with normal testicular function, testicular volume (~20 mL), and follicle-stimulating hormone (FSH) (1-8 IU/mL) when compared to the latter with small, soft testes and increased FSH. History and physician examination along with laboratory testing (following appropriate genetic counseling) is critical to accurate selection of genetic testing appropriate for azoospermia due to primary testicular failure as compared with congenital hypogonadotropic hypogonadism (HH). Genetic testing options include cystic fibrosis transmembrane conductance regulator (CFTR) testing for men with congenital absence of the vas, while karyotype, Y chromosome microdeletions (YCMD), and other specific genetic tests may be warranted depending on the clinical context of severe oligospermia or NOA. The results of genetic testing guide management options. The most recent techniques for genetic analysis, including sperm microRNA (miRNA) and epigenetics, are forming the foundation for future genetic diagnosis and therapeutic targets in male infertility. PMID:26813518

  17. Genetic discrimination and the law.

    PubMed Central

    Natowicz, M R; Alper, J K; Alper, J S

    1992-01-01

    The use of genetic tests can lead to genetic discrimination, discrimination based solely on the nature of an individual's genotype. Instances of the discriminatory uses of genetic tests by employers and insurance companies have already been reported. The recently enacted Americans with Disabilities Act of 1990 (ADA), together with other federal and state laws, can be used to combat some forms of this discrimination. In this article we define and characterize genetic discrimination, discuss the applicability of the various relevant federal and state laws, including the ADA, in the areas of employment and insurance discrimination, explore the limitations of these laws, and, finally, suggest some means of overcoming these limitations. PMID:1342778

  18. Genetics Home Reference: Frasier syndrome

    MedlinePlus

    ... Defects National Kidney Foundation: Focal Glomerulosclerosis University of Kansas Resource List: Kidney/Urological Conditions University of Kansas Resource List: Sexuality and Sexual Differentiation Syndromes Genetic ...

  19. The Synthesis Paradigm in Genetics

    PubMed Central

    Rice, William R.

    2014-01-01

    Experimental genetics with model organisms and mathematically explicit genetic theory are generally considered to be the major paradigms by which progress in genetics is achieved. Here I argue that this view is incomplete and that pivotal advances in genetics—and other fields of biology—are also made by synthesizing disparate threads of extant information rather than generating new information from experiments or formal theory. Because of the explosive expansion of information in numerous “-omics” data banks, and the fragmentation of genetics into numerous subdisciplines, the importance of the synthesis paradigm will likely expand with time. PMID:24496401

  20. Genetic comorbidities in Parkinson's disease.

    PubMed

    Nalls, Mike A; Saad, Mohamad; Noyce, Alastair J; Keller, Margaux F; Schrag, Anette; Bestwick, Jonathan P; Traynor, Bryan J; Gibbs, J Raphael; Hernandez, Dena G; Cookson, Mark R; Morris, Huw R; Williams, Nigel; Gasser, Thomas; Heutink, Peter; Wood, Nick; Hardy, John; Martinez, Maria; Singleton, Andrew B

    2014-02-01

    Parkinson's disease (PD) has a number of known genetic risk factors. Clinical and epidemiological studies have suggested the existence of intermediate factors that may be associated with additional risk of PD. We construct genetic risk profiles for additional epidemiological and clinical factors using known genome-wide association studies (GWAS) loci related to these specific phenotypes to estimate genetic comorbidity in a systematic review. We identify genetic risk profiles based on GWAS variants associated with schizophrenia and Crohn's disease as significantly associated with risk of PD. Conditional analyses adjusting for SNPs near loci associated with PD and schizophrenia or PD and Crohn's disease suggest that spatially overlapping loci associated with schizophrenia and PD account for most of the shared comorbidity, while variation outside of known proximal loci shared by PD and Crohn's disease accounts for their shared genetic comorbidity. We examine brain methylation and expression signatures proximal to schizophrenia and Crohn's disease loci to infer functional changes in the brain associated with the variants contributing to genetic comorbidity. We compare our results with a systematic review of epidemiological literature, while the findings are dissimilar to a degree; marginal genetic associations corroborate the directionality of associations across genetic and epidemiological data. We show a strong genetically defined level of comorbidity between PD and Crohn's disease as well as between PD and schizophrenia, with likely functional consequences of associated variants occurring in brain. PMID:24057672

  1. Genetics Home Reference: Kallmann syndrome

    MedlinePlus

    ... Encyclopedia: Hypogonadotropic Hypogonadism Encyclopedia: Smell - Impaired Health Topic: Endocrine Diseases Health Topic: Taste and Smell Disorders Genetic and Rare Diseases Information Center (7 links) ...

  2. Legal aspects of genetic information.

    PubMed Central

    Andrews, L. B.

    1991-01-01

    The federally funded Human Genome Initiative will lead to the development of new capabilities to learn about an individual's genetic status. Legal issues are raised concerning patients' and other parties' access to that information. This article discusses the effect of existing statutes and case law on three pivotal questions: To what sort of information are people entitled? What control should people have over their genetic information? Do people have a right to refuse genetic information? The article emphasizes that the law protects a patient's right to obtain or refuse genetic information about oneself, as well as the right to control the dissemination of that information to others. PMID:1897258

  3. The genetics of multiple sclerosis.

    PubMed

    Lin, Rui; Charlesworth, Jac; van der Mei, Ingrid; Taylor, Bruce V

    2012-10-01

    Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system. Improved prevention and treatment will depend on a greater understanding of the causes and mechanisms involved in its onset and progression. MS is clearly driven by both environmental and genetic factors. Established contributory environmental factors include lower ultraviolet radiation exposure and lower vitamin D levels, Epstein-Barr virus and smoking. Our current understanding of MS genetics is undergoing a major upgrade as new genetic technologies are applied to large MS studies. In this article, we review the current literature describing a genetic contribution to MS susceptibility and review the methods to detect genetic variants that may underlie the genetic contribution to MS. We also consider how reporting of genetic discoveries in MS in the lay press has caused some confusion among patients and their families, who, not surprisingly, think that these discoveries can be translated into an available genetic test to diagnose MS or recognise family members at risk of developing MS. We review the current limited clinical use of genetics in the diagnosis and management of MS. PMID:22976058

  4. Concepts of genetics: II edition

    SciTech Connect

    Klug, W.S.; Cummings, M.R.

    1986-01-01

    This book provides an introduction to the molecule, and progresses logically through cellular genetics and the genetics of organisms to the larger picture of population genetics. The Second Edition features new chapters on quantitative inheritance and recombinant DNA, a new appendix with a human gene map and coverage of gene disorders, expanded coverage of bacterial and viral genetics, and consolidated coverage of sex linkage, sex determination, sex chromosome abberations, and sex differentiation. Dozens of new figures are added in this edition. All diagrams, photographs, and tables work hand-in-hand with the text to explain important concepts. Practical exercises with answers at the back of the text provide immediate feedback.

  5. Virtual Library on Genetics from Oak Ridge National Laboratory

    DOE Data Explorer

    The World Wide Web (WWW) Virtual Library is a collaborative effort to provide topic indices that break down into many subtopics guiding users to vast resources of information around the world. ORNL hosts the Virtual Library on Genetics as part of the WWWVL's Biosciences topic area. The VL on Genetics is also a collection of links to information resources that supported the DOE Human Genome Project. That project has now evolved into Genomics: GTL. GTL is DOE's next step in genomics--builds on data and resources from the Human Genome Project, the Microbial Genome Program, and systems biology. GTL will accelerate understanding of dynamic living systems for solutions to DOE mission challenges in energy and the environment. The section of the Virtual Library on Genetics that is titled Organisms guides users to genetic information resources and gene sequences for animals, insects, microbes, and plant life.

  6. Genetic predisposition, non-genetic risk factors and coronary infarct

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Background: Using a genetic predisposition score (GPS), additively integrating the associations of 11 polymorphisms with coronary heart disease (CHD), we examined the consequences of joint presence of high GPS and non-genetic CHD risk factors. Methods: Within the European Prospective Investigation i...

  7. Genetics and genetic testing of dilated cardiomyopathy: a new perspective.

    PubMed

    Mestroni, Luisa; Taylor, Matthew R G

    2013-01-01

    The completion of the Human Genome Project was a landmark achievement, but as clinical genetic testing becomes more mainstream, the extent of remarkable genetic variation is increasingly being appreciated. Newer DNA sequencing technology can now complete the sequencing of an entire human genome several times over in a matter of days, but this will undoubtedly add new challenges to the difficulty of distinguishing true pathogenic variants from benign variants in diagnostic genetics and in the research setting. The recent discovery of the role of titin gene (TTN) mutations in dilated cardiomyopathy (DCM) will make genetic testing in this disease more efficient. Furthermore, better understanding of genotype-phenotype associations will assist clinicians in identifying early stages of disease and providing more appropriate treatments. This high level of complexity requires an expert genetic team to offer counseling and to manage, deliver, and follow-up over time the results of genetic testing, which is particularly important for screening of family members potentially at risk. In DCM, genetic testing may be useful for the identification of non-carriers and asymptomatic carriers, as well as for prevention strategies, sport recommendations, and defibrillator implantation. It can also guide reproductive decision-making including utilization of pre-implantation genetic diagnostic strategies. PMID:23375013

  8. On Gene Concepts and Teaching Genetics: Episodes from Classical Genetics

    ERIC Educational Resources Information Center

    Burian, Richard M.

    2013-01-01

    This paper addresses the teaching of advanced high school courses or undergraduate courses for non-biology majors about genetics or history of genetics. It will probably be difficult to take the approach described here in a high school science course, although the general approach could help improve such courses. It would be ideal for a college…

  9. Genetics in the art and art in genetics.

    PubMed

    Bukvic, Nenad; Elling, John W

    2015-01-15

    "Healing is best accomplished when art and science are conjoined, when body and spirit are probed together", says Bernard Lown, in his book "The Lost Art of Healing". Art has long been a witness to disease either through diseases which affected artists or diseases afflicting objects of their art. In particular, artists have often portrayed genetic disorders and malformations in their work. Sometimes genetic disorders have mystical significance; other times simply have intrinsic interest. Recognizing genetic disorders is also an art form. From the very beginning of my work as a Medical Geneticist I have composed personal "algorithms" to piece together evidence of genetics syndromes and diseases from the observable signs and symptoms. In this paper we apply some 'gestalt' Genetic Syndrome Diagnostic algorithms to virtual patients found in some art masterpieces. In some the diagnosis is clear and in others the artists' depiction only supports a speculative differential diagnosis. PMID:25089030

  10. Biomarkers, genetics and cancer

    SciTech Connect

    Anton-Guirgis, H.; Lynch, H.T.

    1985-01-01

    Biological markers can greatly facilitate identification of individuals at high cancer risk. This volume surveys the entire field of biological markers and how they promote early diagnosis of various hereditary cancer forms. Chapters written in down-to-earth style make the data relevant to practicing clinicians as well as research scientists. Markers for site-specific tumors are investigated from the standpoints of etiology and carcinogenesis. Particular attention is given to cancer genetic settings that could serve as models for further research. Methods of identifying both those at high cancer risk and those in a pre-cancerous state are clearly explained. Specific areas covered include polymorphic markers, multiple biological markers, hereditary adenomatosis, and carcino-embryonic antigens. Research findings from studies of twins, families, and first degree relatives offer valuable insights into heritable cancer syndromes.

  11. Genetic Networks in Osseointegration

    PubMed Central

    Nishimura, I.

    2013-01-01

    Osseointegration-based dental implants have become a well-accepted treatment modality for complete and partial edentulism. The success of this treatment largely depends on the stable integration and maintenance of implant fixtures in alveolar bone; however, the molecular and cellular mechanisms regulating this unique tissue reaction have not yet been fully uncovered. Radiographic and histologic observations suggest the sustained retention of peri-implant bone without an apparent susceptibility to catabolic bone remodeling; therefore, implant-induced bone formation continues to be intensively investigated. Increasing numbers of whole-genome transcriptome studies suggest complex molecular pathways that may play putative roles in osseointegration. This review highlights genetic networks related to bone quality, the transient chondrogenic phase, the vitamin D axis, and the peripheral circadian rhythm to elute the regulatory mechanisms underlying the establishment and maintenance of osseointegration. PMID:24158334

  12. Genetics of chondrocalcinosis.

    PubMed

    Zaka, Raihana; Williams, Charlene J

    2005-09-01

    Rapid developments in genetic analysis have enabled the dissection of a variety of arthropathies that are inherited in a Mendelian manner. These disorders include calcium crystal arthropathies such as calcium pyrophosphate dihydrate deposition (CPPD) disease and hydroxyapatite deposition disease. In CPPD disease, mutations in a recently discovered gene, ANKH, have been demonstrated in five affected families and may also be associated with the idiopathic deposition of calcium pyrophosphate dihydrate crystals. The product of ANKH appears to be involved in cellular transport of inorganic pyrophosphate (PPi) and mutations in ANKH have been shown to have a significant impact on the regulation of intra- and extracellular levels of PPi. In families with hydroxyapatite deposition disease, no gene locus has yet been linked to the disorder. PMID:15951203

  13. Genetics of primary hyperaldosteronism.

    PubMed

    Dutta, Ravi Kumar; Söderkvist, Peter; Gimm, Oliver

    2016-10-01

    Hypertension is a common medical condition and affects approximately 20% of the population in developed countries. Primary aldosteronism is the most common form of secondary hypertension and affects 8-13% of patients with hypertension. The two most common causes of primary aldosteronism are aldosterone-producing adenoma and bilateral adrenal hyperplasia. Familial hyperaldosteronism types I, II and III are the known genetic syndromes, in which both adrenal glands produce excessive amounts of aldosterone. However, only a minority of patients with primary aldosteronism have one of these syndromes. Several novel susceptibility genes have been found to be mutated in aldosterone-producing adenomas: KCNJ5, ATP1A1, ATP2B3, CTNNB1, CACNA1D, CACNA1H and ARMC5 This review describes the genes currently known to be responsible for primary aldosteronism, discusses the origin of aldosterone-producing adenomas and considers the future clinical implications based on these novel insights. PMID:27485459

  14. Genetic biomarkers of depression

    PubMed Central

    Tamatam, Anand; Khanum, Farhath; Bawa, Amarinder Singh

    2012-01-01

    Depression is a term that has been used to describe a variety of ailments, ranging from minor to incapacitating. Clinically significant depression, termed as major depression, is a serious condition characterized not only by depressed mood but also by a cluster of somatic, cognitive, and motivational symptoms. Significant research efforts are aimed to understand the neurobiological as well as psychiatric disorders, and the evaluation of treatment of these disorders is still based solely on the assessment of symptoms. In order to identify the biological markers for depression, we have focused on gathering information on different factors responsible for depression including stress, genetic variations, neurotransmitters, and cytokines and chemokines previously suggested to be involved in the pathophysiology of depression. The present review illustrates the potential of biomarker profiling for psychiatric disorders, when conducted in large collections. The review highlighted the biomarker signatures for depression, warranting further investigation. PMID:22754217

  15. Genetic basis of autoimmunity

    PubMed Central

    Marson, Alexander; Housley, William J.; Hafler, David A.

    2015-01-01

    Autoimmune diseases affect up to approximately 10% of the population. While rare Mendelian autoimmunity syndromes can result from monogenic mutations disrupting essential mechanisms of central and peripheral tolerance, more common human autoimmune diseases are complex disorders that arise from the interaction between polygenic risk factors and environmental factors. Although the risk attributable to most individual nucleotide variants is modest, genome-wide association studies (GWAS) have the potential to provide an unbiased view of biological pathways that drive human autoimmune diseases. Interpretation of GWAS requires integration of multiple genomic datasets including dense genotyping, cis-regulatory maps of primary immune cells, and genotyped studies of gene expression in relevant cell types and cellular conditions. Improved understanding of the genetic basis of autoimmunity may lead to a more sophisticated understanding of underlying cellular phenotypes and, eventually, novel diagnostics and targeted therapies. PMID:26030227

  16. Molecular genetics of alopecias.

    PubMed

    Ramot, Yuval; Zlotogorski, Abraham

    2015-01-01

    Recent developments in research methods and techniques, such as whole-exome and -genome sequencing, have substantially improved our understanding of genetic conditions. Special progress has been made in the field of genotrichoses, or hereditary hair diseases, a field that has been obscure for many years. The underlying genes for many of the monogenic hair diseases are now known. Additionally, complex analyses of large cohorts of patients have given us the first clues to the genes associated with polygenic hair disorders, such as androgenetic alopecia and alopecia areata. Thanks to these major findings, the sophisticated regulation of the morphogenesis, development and growth of hair follicles has begun to be revealed, and new players in this delicate molecular interplay have been exposed. PMID:26370647

  17. Genetics and skin aging

    PubMed Central

    Makrantonaki, Evgenia; Bekou, Vassiliki; Zouboulis, Christos C.

    2012-01-01

    Skin aging is a complex process and underlies multiple influences with the probable involvement of heritable and various environmental factors. Several theories have been conducted regarding the pathomechanisms of aged skin, however fundamental mechanisms still remain poorly understood. This article addresses the influence of genetics on skin aging and in particular deals with the differences observed in ethnic populations and between both genders. Recent studies indicate that male and female aged skin differs as far as the type, the consistency and the sensitivity to external factors is concerned. The same has been also documented between elderly people of different origin. Consequently, the aging process taking place in both genders and in diverse ethnic groups should be examined separately and products specialized to each population should be developed in order to satisfy the special needs. PMID:23467395

  18. Leprosy and genetics*

    PubMed Central

    Beiguelman, Bernardo

    1967-01-01

    The few geneticists who are interested in leprosy have been working in this field only since 1962, and have made little progress in solving the problems presented by susceptibility to this disease. This paper reviews the research that has been conducted, with particular reference to the search for associations between leprosy and certain genetic markers. In each area, the advantages and limitations of different techniques are described, and attention is drawn to sources of bias that may invalidate many of the results that have been published. Of particular interest is the discussion of a new technique for evaluating resistance to-leprosy. The proposed technique is based upon the in vitro transformation of blood monocytes into macrophages, and the observation of their behaviour against Mycobacterium leprae. PMID:5301388

  19. Genetics of metabolic resistance.

    PubMed

    Richter, Otto; Langemann, Dirk; Beffa, Roland

    2016-09-01

    Herbicide resistance has become a major issue for many weeds. Metabolic resistance refers to the biochemical processes within organisms that degrade herbicides to less toxic compounds, resulting in a shift of the dose response curve. This type of resistance involves polygenic inheritance. A model is presented linking the biochemical pathway of amino acid synthesis and the detoxifying pathway of an inhibitor of the key enzyme ALS. From this model, resistance factors for each biotype are derived, which are then applied to a polygenic population genetic model for an annual weed plant. Polygenic inheritance is described by a new approach based on tensor products of heredity matrices. Important results from the model are that low dose regimes favour fast emergence of resistant biotypes and that the emergence of resistant biotypes occurs as abrupt outbreaks. The model is used to evaluate strategies for the management of metabolic resistance. PMID:27424952

  20. Genetically modified bacteriophages.

    PubMed

    Sagona, Antonia P; Grigonyte, Aurelija M; MacDonald, Paul R; Jaramillo, Alfonso

    2016-04-18

    Phages or bacteriophages, viruses that infect and replicate inside bacteria, are the most abundant microorganisms on earth. The realization that antibiotic resistance poses a substantial risk to the world's health and global economy is revitalizing phage therapy as a potential solution. The increasing ease by which phage genomes can be modified, owing to the influx of new technologies, has led to an expansion of their natural capabilities, and a reduced dependence on phage isolation from environmental sources. This review will discuss the way synthetic biology has accelerated the construction of genetically modified phages and will describe the wide range of their applications. It will further provide insight into the societal and economic benefits that derive from the use of recombinant phages in various sectors, from health to biodetection, biocontrol and the food industry. PMID:26906932

  1. Genetic susceptibility to radiation

    NASA Astrophysics Data System (ADS)

    Hall, E. J.; Brenner, D. J.; Worgul, B.; Smilenov, L.

    In the context of space radiation, it is important to know whether the human population includes genetically predisposed radiosensitive subsets. One possibility is that haploinsufficiency for ATM confers radiosensitivity, and this defect involves 1-3% of the population. Using knock-out mice we chose to study cataractogenesis in the lens and oncogenic transformation in mouse embryo fibroblasts to assay for effects of ATM deficiency. Radiation induced cataracts appeared earlier in the heterozygous versus wild-type animals following exposure to either gamma rays or 1 GeV/nucleon iron ions. In addition, it was found that embryo fibroblasts of Atm heterozygotes showed an increased incidence of oncogenic transformation compared with their normal litter-matched counterparts. From these data we suggest that Ataxia Telangiectasia heterozygotes could indeed represent a societally-significant radiosensitive subpopulation.

  2. Genetics of autoimmune diseases: insights from population genetics

    PubMed Central

    Ramos, Paula S; Shedlock, Andrew M; Langefeld, Carl D

    2015-01-01

    Human genetic diversity is the result of population genetic forces. This genetic variation influences disease risk and contributes to health disparities. Autoimmune diseases (ADs) are a family of complex heterogeneous disorders with similar underlying mechanisms characterized by immune responses against self. Collectively, ADs are common, exhibit gender and ethnic disparities, and increasing incidence. As natural selection is an important influence on human genetic variation, and immune function genes are enriched for signals of positive selection, it is thought that the prevalence of AD risk alleles seen in different population is partially the result of differing selective pressures (for example, due to pathogens). With the advent of high-throughput technologies, new analytical methodologies and large-scale projects, evidence for the role of natural selection in contributing to the heritable component of ADs keeps growing. This review summarizes the genetic regions associated with susceptibility to different ADs and concomitant evidence for selection, including known agents of selection exerting selective pressure in these regions. Examples of specific adaptive variants with phenotypic effects are included as an evidence of natural selection increasing AD susceptibility. Many of the complexities of gene effects in different ADs can be explained by population genetics phenomena. Integrating AD susceptibility studies with population genetics to investigate how natural selection has contributed to genetic variation that influences disease risk will help to identify functional variants and elucidate biological mechanisms. As such, the study of population genetics in human population holds untapped potential for elucidating the genetic causes of human disease and more rapidly focusing to personalized medicine. PMID:26223182

  3. Genetically engineered vaccines.

    PubMed

    Thomas, Wayne R; Hales, Belinda J; Smith, Wendy-Anne

    2005-05-01

    The application of recombinant DNA technology to allergen research has provided the sequence information and genetic material to produce new types of allergy vaccines. One general strategy has been to use the knowledge to produce synthetic peptides that represent selected T-cell or B-cell epitopes. The production of genetically engineered allergens provides an alternative strategy to construct hypoallergenic vaccines, which can provide a better and less selected representation of the epitopes. Many strategies have been used to produce such hypoallergens, and their ability to reduce allergenicity has been amply demonstrated by skin and nasal provocation tests. The retention of T cell-stimulating activity has also been demonstrated, and a consistent feature of the vaccines has been, despite the reduced immunoglobulin E (IgE)-binding reactivity, the ability to induce anti-allergen IgG antibody. The lead hypoallergens have been polypeptide fragments and trimeric constructs of the birch allergen Bet v 1. A clinical trial with these medicaments has shown the ability to modify IgE and IgG antibody production, skin test reactivity, and symptom scores. This is the first trial of a recombinant allergy vaccine, and it has set a benchmark for further studies. A new generation of hypoallergens is now being produced based on the detailed knowledge of the tertiary structures of the allergens and of the T-cell and B-cell epitopes. The modifications have been made to change the topography of the allergens while retaining a stable, folding structure. In the case of Bet v 1, tertiary structures of hypoallergens have been determined. Structurally modeled hypoallergens have been produced for pollen, venom, food, and latex allergens, with promising characteristics from preclinical studies. PMID:15842957

  4. Agrobacterium: nature's genetic engineer.

    PubMed

    Nester, Eugene W

    2014-01-01

    Agrobacterium was identified as the agent causing the plant tumor, crown gall over 100 years ago. Since then, studies have resulted in many surprising observations. Armin Braun demonstrated that Agrobacterium infected cells had unusual nutritional properties, and that the bacterium was necessary to start the infection but not for continued tumor development. He developed the concept of a tumor inducing principle (TIP), the factor that actually caused the disease. Thirty years later the TIP was shown to be a piece of a tumor inducing (Ti) plasmid excised by an endonuclease. In the next 20 years, most of the key features of the disease were described. The single-strand DNA (T-DNA) with the endonuclease attached is transferred through a type IV secretion system into the host cell where it is likely coated and protected from nucleases by a bacterial secreted protein to form the T-complex. A nuclear localization signal in the endonuclease guides the transferred strand (T-strand), into the nucleus where it is integrated randomly into the host chromosome. Other secreted proteins likely aid in uncoating the T-complex. The T-DNA encodes enzymes of auxin, cytokinin, and opine synthesis, the latter a food source for Agrobacterium. The genes associated with T-strand formation and transfer (vir) map to the Ti plasmid and are only expressed when the bacteria are in close association with a plant. Plant signals are recognized by a two-component regulatory system which activates vir genes. Chromosomal genes with pleiotropic functions also play important roles in plant transformation. The data now explain Braun's old observations and also explain why Agrobacterium is nature's genetic engineer. Any DNA inserted between the border sequences which define the T-DNA will be transferred and integrated into host cells. Thus, Agrobacterium has become the major vector in plant genetic engineering. PMID:25610442

  5. Archaeal Extrachromosomal Genetic Elements

    PubMed Central

    Wang, Haina; Peng, Nan; Shah, Shiraz A.

    2015-01-01

    SUMMARY Research on archaeal extrachromosomal genetic elements (ECEs) has progressed rapidly in the past decade. To date, over 60 archaeal viruses and 60 plasmids have been isolated. These archaeal viruses exhibit an exceptional diversity in morphology, with a wide array of shapes, such as spindles, rods, filaments, spheres, head-tails, bottles, and droplets, and some of these new viruses have been classified into one order, 10 families, and 16 genera. Investigation of model archaeal viruses has yielded important insights into mechanisms underlining various steps in the viral life cycle, including infection, DNA replication and transcription, and virion egression. Many of these mechanisms are unprecedented for any known bacterial or eukaryal viruses. Studies of plasmids isolated from different archaeal hosts have also revealed a striking diversity in gene content and innovation in replication strategies. Highly divergent replication proteins are identified in both viral and plasmid genomes. Genomic studies of archaeal ECEs have revealed a modular sequence structure in which modules of DNA sequence are exchangeable within, as well as among, plasmid families and probably also between viruses and plasmids. In particular, it has been suggested that ECE-host interactions have shaped the coevolution of ECEs and their archaeal hosts. Furthermore, archaeal hosts have developed defense systems, including the innate restriction-modification (R-M) system and the adaptive CRISPR (clustered regularly interspaced short palindromic repeats) system, to restrict invasive plasmids and viruses. Together, these interactions permit a delicate balance between ECEs and their hosts, which is vitally important for maintaining an innovative gene reservoir carried by ECEs. In conclusion, while research on archaeal ECEs has just started to unravel the molecular biology of these genetic entities and their interactions with archaeal hosts, it is expected to accelerate in the next decade. PMID

  6. Genetics of melanoma

    PubMed Central

    Wangari-Talbot, Janet; Chen, Suzie

    2013-01-01

    Genomic variation is a trend observed in various human diseases including cancer. Genetic studies have set out to understand how and why these variations result in cancer, why some populations are pre-disposed to the disease, and also how genetics affect drug responses. The melanoma incidence has been increasing at an alarming rate worldwide. The burden posed by melanoma has made it a necessity to understand the fundamental signaling pathways involved in this deadly disease. Signaling cascades such as mitogen-activated protein kinase and PI3K/AKT have been shown to be crucial in the regulation of processes that are commonly dysregulated during cancer development such as aberrant proliferation, loss of cell cycle control, impaired apoptosis, and altered drug metabolism. Understanding how these and other oncogenic pathways are regulated has been integral in our challenge to develop potent anti-melanoma drugs. With advances in technology and especially in next generation sequencing, we have been able to explore melanoma genomes and exomes leading to the identification of previously unknown genes with functions in melanomagenesis such as GRIN2A and PREX2. The therapeutic potential of these novel candidate genes is actively being pursued with some presenting as druggable targets while others serve as indicators of therapeutic responses. In addition, the analysis of the mutational signatures of melanoma tumors continues to cement the causative role of UV exposure in melanoma pathogenesis. It has become distinctly clear that melanomas from sun-exposed skin areas have distinct mutational signatures including C to T transitions indicative of UV-induced damage. It is thus necessary to continue spreading awareness on how to decrease the risk factors of developing the disease while at the same time working for a cure. Given the large amount of information gained from these sequencing studies, it is likely that in the future, treatment of melanoma will follow a highly

  7. Genetics of Cushing's syndrome.

    PubMed

    Yaneva, Maria; Vandeva, Silvia; Zacharieva, Sabina; Daly, Adrian F; Beckers, Albert

    2010-01-01

    Cushing's syndrome (CS) is characterized by pathologically elevated free glucocorticoid levels. Endogenous hypercortisolism is usually due to ACTH-secreting pituitary corticotropic adenomas and less often due to ectopic ACTH-secreting neuroendocrine neoplasms or ACTH-independent adrenal cortisol hypersecretion. CS is a serious chronic disease leading to a several-fold increase in cardiovascular morbidity and mortality. Multiple genetic alterations have been described in the setting of sporadic corticotropinoma formation. Changes in the expression profiles have been demonstrated in growth factors and their receptors, cell-cycle regulators and in various genes related to hormonal gene transcription, synthesis and secretion. Sporadic adrenal adenomas and carcinomas may demonstrate dysfunction in genes such as TP53 among others. Cushing's disease can be an inherited condition also. Multiple endocrine neoplasia type 1 (MEN1) and familial isolated pituitary adenomas (FIPA) together account for 5% of pituitary adenomas. Cushing's disease occurs infrequently in an inherited setting in both of these conditions. To date only 2 cases of Cushing's disease have been described in association with mutations in AIP. One case of Cushing's disease has been reported as part of MEN4, a rare MEN1-like syndrome due to mutation in the CDKN1B gene. Carney complex (CNC) due to PRKAR1A mutations in most cases is associated with CS, mainly as a cause of bilateral adrenal hyperplasia. The cAMP signaling pathway is affected in this setting. In recent times the involvement of genes such as PDE11A, PDE8B and others have expanded the spectrum of the genetic pathophysiology of CS. PMID:20829611

  8. [Genetic vulnerability of methamphetamine dependence].

    PubMed

    Moriya, Yuki; Kasahara, Yoshiyuki; Sora, Ichiro

    2013-08-01

    Methamphetamine (METH) dependence show strong familial and genetic influences in family and twin studies. METH exerts its reinforcing effects by modulating monoaminergic transmission, of which dopamine is supposed to be important. Previously, experimental animals were being used to identify mechanisms of action of METH that are related to its abuse and toxicity, and genetic mouse models have also been used to define genes that may predict risk for the development of drug addiction. We found that genetic variances of dopamine transporter, dopamine receptor, micro-opioid receptor, serotonin 1A receptor, serotonin 6 receptor, and adenosine 2A adenosine receptor could be vulnerability factors for METH dependence or psychosis in the Japanese population. Genetic analysis with a genome-wide association study (GWAS)-based approach has been successful for investigating the genetic influences of METH dependence and other complex features. Collaborative studies with JGIDA and NIDA/NIH have obtained the results that the genetic vulnerability to METH dependence contributes to other major drug addiction. The genetic studies for METH dependence might help to identify the risk of individuals and to develop treatments that take advantage of individual genetic information in the future. PMID:25069251

  9. Reverse genetics of avian metapneumoviruses

    Technology Transfer Automated Retrieval System (TEKTRAN)

    An overview of avian metapneumovirus (aMPV) infection in turkeys and development of a reverse genetics system for aMPV subgroup C (aMPV-C) virus will be presented. By using reverse genetics technology, we generated recombinant aMPV-C viruses containing a different length of glycoprotein (G) gene or...

  10. Property rights in genetic information.

    PubMed

    Spinello, Richard A

    2004-01-01

    The primary theme of this paper is the normative case against ownership of one's genetic information along with the source of that information (usually human tissues samples). The argument presented here against such "upstream" property rights is based primarily on utilitarian grounds. This issue has new salience thanks to the Human Genome Project and "bio-prospecting" initiatives based on the aggregation of genetic information, such as the one being managed by deCODE Genetics in Iceland. The rationale for ownership is twofold: ownership will protect the basic human rights of privacy and autonomy and it will enable the data subjects to share in the tangible benefits of the genetic research. Proponents of this viewpoint often cite the principle of genetic exceptionalism, which asserts that genetic information needs a higher level of protection than other kinds of personal information such as financial data. We argue, however, that the recognition of such ownership rights would lead to inefficiency along with the disutility of genetic discoveries. Biomedical research will be hampered if property rights in genes and genetic material are too extensive. We contend that other mechanisms such as informed consent and strict confidentiality rules can accomplish the same result as a property right without the liabilities of an exclusive entitlement. PMID:16969959

  11. Genetic Differences and School Readiness

    ERIC Educational Resources Information Center

    Dickens, William T.

    2005-01-01

    The author considers whether differences in genetic endowment may account for racial and ethnic differences in school readiness. While acknowledging an important role for genes in explaining differences "within" races, he nevertheless argues that environment explains most of the gap "between" blacks and whites, leaving little role for genetics.…

  12. Genetics: Finding Genes for Schizophrenia

    PubMed Central

    Flint, Jonathan; Munafò, Marcus R.

    2016-01-01

    New studies have substantially advanced our understanding of the genetic architecture of schizophrenia, but we are far from identifying the underlying mutations. We may require new approaches to understand the biological implications of insights into the genetics of psychiatric disease. PMID:25137590

  13. All about Genetics (For Parents)

    MedlinePlus

    ... Story" 5 Things to Know About Zika & Pregnancy All About Genetics KidsHealth > For Parents > All About Genetics Print A A A Text Size ... if a recipe is missing many ingredients — or all of them) or small (if just one ingredient ...

  14. Difficulties in Genetics Problem Solving.

    ERIC Educational Resources Information Center

    Tolman, Richard R.

    1982-01-01

    Examined problem-solving strategies of 30 high school students as they solved genetics problems. Proposes a new sequence of teaching genetics based on results: meiosis, sex chromosomes, sex determination, sex-linked traits, monohybrid and dihybrid crosses (humans), codominance (humans), and Mendel's pea experiments. (JN)

  15. Genetic Mapping in Human Disease

    PubMed Central

    Altshuler, David; Daly, Mark J.; Lander, Eric S.

    2009-01-01

    Genetic mapping provides a powerful approach to identify genes and biological processes underlying any trait influenced by inheritance, including human diseases. We discuss the intellectual foundations of genetic mapping of Mendelian and complex traits in humans, examine lessons emerging from linkage analysis of Mendelian diseases and genome-wide association studies of common diseases, and discuss questions and challenges that lie ahead. PMID:18988837

  16. Low Budget Biology: Genetics Unit.

    ERIC Educational Resources Information Center

    Wartski, Bert; Wartski, Lynn Marie

    Some concepts in genetics are difficult for many students to understand. This document provides hands-on, cost efficient, fun activities for students to help them better understand abstract concepts in genetics. Each activity includes: purpose, introduction, materials, procedures, results and conclusion. Some of the topics explored are: (1)…

  17. Genetic Evaluation of Short Stature

    PubMed Central

    Rosenfeld, Ron G.

    2014-01-01

    Context: Genetics plays a major role in determining an individual's height. Although there are many monogenic disorders that lead to perturbations in growth and result in short stature, there is still no consensus as to the role that genetic diagnostics should play in the evaluation of a child with short stature. Evidence Acquisition: A search of PubMed was performed, focusing on the genetic diagnosis of short stature as well as on specific diagnostic subgroups included in this article. Consensus guidelines were reviewed. Evidence Synthesis: There are a multitude of rare genetic causes of severe short stature. There is no high-quality evidence to define the optimal approach to the genetic evaluation of short stature. We review genetic etiologies of a number of diagnostic subgroups and propose an algorithm for genetic testing based on these subgroups. Conclusion: Advances in genomic technologies are revolutionizing the diagnostic approach to short stature. Endocrinologists must become facile with the use of genetic testing in order to identify the various monogenic disorders that present with short stature. PMID:24915122

  18. Genetics and Intelligence: What's New?

    ERIC Educational Resources Information Center

    Plomin, Robert; Petrill, Stephen A.

    1997-01-01

    Genetic research on intelligence has moved beyond the nature-nurture controversy to investigate developmental change and continuity, associations among cognitive abilities, and the developmental interface between nature and nurture. Advances in molecular genetics are leading to a new era of research. (Author/SLD)

  19. Medical Genetics Is Not Eugenics

    ERIC Educational Resources Information Center

    Cowan, Ruth Schwartz

    2008-01-01

    The connection that critics make between medical genetics and eugenics is historically fallacious. Activists on the political right are as mistaken as activists on the political left: Genetic screening was not eugenics in the past, is not eugenics in the present, and, unless its technological systems become radically transformed, will not be…

  20. Genetic and physical map correlation

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Genetic and physical maps illustrate the arrangement of genes and DNA markers on a chromosome. The relative distances between positions on a genetic map are calculated using recombination frequencies while a physical map is based on the actual number of nucleotide pairs between loci. These maps ar...

  1. Basic Genetics: A Human Approach.

    ERIC Educational Resources Information Center

    Biological Sciences Curriculum Study, Colorado Springs, CO. Center for Education in Human and Medical Genetics.

    This document (which has the form of a magazine) provides a variety of articles, stories, editorials, letters, interviews, and other types of magazine features (such as book reviews) which focus on human genetics. In addition to providing information about the principles of genetics, nearly all of the sections in the "magazine" address moral,…

  2. Genetic evaluation for cow livability

    Technology Transfer Automated Retrieval System (TEKTRAN)

    When genetic evaluations for Productive Life were introduced by USDA in 1994, U.S. dairy producers had an opportunity to produce healthier cows, and it happened. The genetic evaluations were incorporated into selection programs and the deterioration occurring in pregnancy rate and somatic cell score...

  3. The recombination of genetic material

    SciTech Connect

    Low, K.B.

    1988-01-01

    Genetic recombination is the major mechanism by which new arrangements of genetic elements are produced in all living organisms, from the simplest bacterial viruses to humans. This volume presents an overview of the types of recombination found in prokaryotes and eukaryotes.

  4. Learning Genetics with Computer Dragons

    ERIC Educational Resources Information Center

    Tsui, Chi-Yan; Treagust, David

    2003-01-01

    Over the past decades, genetics has remained a difficult topic in school science. This paper presents an interactive multimedia program, "BioLogica", used to teach Grade 10 (14- and 15-year-olds) Australian students about genetics. Over six weeks, the teacher used different representations in the teaching and engaged students in computer…

  5. Learning Genetics with Paper Pets

    ERIC Educational Resources Information Center

    Finnerty, Valerie Raunig

    2006-01-01

    By the end of the eighth grade, students are expected to have a basic understanding of the mechanism of basic genetic inheritance. However, these concepts can be difficult to teach. In this article, the author introduces a new learning tool that will help facilitate student learning and enthusiasm to the basic concepts of genetic inheritance. This…

  6. Genetic testing in Marfan syndrome.

    PubMed

    Child, Anne H; Aragon-Martin, Jose A; Sage, Karen

    2016-01-01

    Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring. Preimplantation genetic diagnosis, the technique of choice, can ensure an unaffected pregnancy. PMID:26903455

  7. Genetic diversity in Gossypium genus

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The overall objectives of this paper are to report on cotton germplasm resources, morphobiological and agronomic diversity of Gossypium genus and review efforts on molecular genetic diversity of cotton gene pools as well as on the challenges and perspectives of exploiting genetic diversity in cotton...

  8. Genetic Mapping with Octoploid Strawberry

    Technology Transfer Automated Retrieval System (TEKTRAN)

    In 2004, the USDA-CSREES call for proposals for the National Research Initiative (NRI) Program 52.1, Plant Genetics, focused on crops within the plant family Rosaceae. The USDA-ARS strawberry (Fragaria L.) and bramble (Rubus L.) breeding and genetics program at Beltsville, Maryland, was involved wit...

  9. National Dairy Genetic Evaluation Program

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The National Dairy Genetic Evaluation Program is a continuation of ongoing USDA collaboration with the U.S. dairy industry on genetic evaluation of dairy cattle since 1908. Data are provided by dairy records processing centers (yield, health, pedigree, and reproduction traits), breed registry societ...

  10. You're a What? Genetic Counselor

    ERIC Educational Resources Information Center

    Mullins, John

    2011-01-01

    When it first emerged about 50 years ago, genetic counseling focused primarily on prenatal testing to detect genetic conditions. But counseling services have evolved to keep pace with a greater knowledge of genetics and wider application of genetic diagnostic testing. Today, there are several types of genetic counselors, and their expertise covers…

  11. Genetic Basis of Metabolome Variation in Yeast

    PubMed Central

    Breunig, Jeffrey S.; Hackett, Sean R.; Rabinowitz, Joshua D.; Kruglyak, Leonid

    2014-01-01

    Metabolism, the conversion of nutrients into usable energy and biochemical building blocks, is an essential feature of all cells. The genetic factors responsible for inter-individual metabolic variability remain poorly understood. To investigate genetic causes of metabolome variation, we measured the concentrations of 74 metabolites across 100 segregants from a Saccharomyces cerevisiae cross by liquid chromatography-tandem mass spectrometry. We found 52 quantitative trait loci for 34 metabolites. These included linkages due to overt changes in metabolic genes, e.g., linking pyrimidine intermediates to the deletion of ura3. They also included linkages not directly related to metabolic enzymes, such as those for five central carbon metabolites to ira2, a Ras/PKA pathway regulator, and for the metabolites, S-adenosyl-methionine and S-adenosyl-homocysteine to slt2, a MAP kinase involved in cell wall integrity. The variant of ira2 that elevates metabolite levels also increases glucose uptake and ethanol secretion. These results highlight specific examples of genetic variability, including in genes without prior known metabolic regulatory function, that impact yeast metabolism. PMID:24603560

  12. Quaternionic representation of the genetic code.

    PubMed

    Carlevaro, C Manuel; Irastorza, Ramiro M; Vericat, Fernando

    2016-03-01

    A heuristic diagram of the evolution of the standard genetic code is presented. It incorporates, in a way that resembles the energy levels of an atom, the physical notion of broken symmetry and it is consistent with original ideas by Crick on the origin and evolution of the code as well as with the chronological order of appearance of the amino acids along the evolution as inferred from work that mixtures known experimental results with theoretical speculations. Suggested by the diagram we propose a Hamilton quaternions based mathematical representation of the code as it stands now-a-days. The central object in the description is a codon function that assigns to each amino acid an integer quaternion in such a way that the observed code degeneration is preserved. We emphasize the advantages of a quaternionic representation of amino acids taking as an example the folding of proteins. With this aim we propose an algorithm to go from the quaternions sequence to the protein three dimensional structure which can be compared with the corresponding experimental one stored at the Protein Data Bank. In our criterion the mathematical representation of the genetic code in terms of quaternions merits to be taken into account because it describes not only most of the known properties of the genetic code but also opens new perspectives that are mainly derived from the close relationship between quaternions and rotations. PMID:26751396

  13. Role of genetic background in induced instability

    NASA Technical Reports Server (NTRS)

    Kadhim, Munira A.; Nelson, G. A. (Principal Investigator)

    2003-01-01

    Genomic instability is effectively induced by ionizing radiation. Recently, evidence has accumulated supporting a relationship between genetic background and the radiation-induced genomic instability phenotype. This is possibly due to alterations in proteins responsible for maintenance of genomic integrity or altered oxidative metabolism. Studies in human cell lines, human primary cells, and mouse models have been performed predominantly using high linear energy transfer (LET) radiation, or high doses of low LET radiation. The interplay between genetics, radiation response, and genomic instability has not been fully determined at low doses of low LET radiation. However, recent studies using low doses of low LET radiation suggest that the relationship between genetic background and radiation-induced genomic instability may be more complicated than these same relationships at high LET or high doses of low LET radiation. The complexity of this relationship at low doses of low LET radiation suggests that more of the population may be at risk than previously recognized and may have implications for radiation risk assessment.

  14. Genetic disorders producing compressive radiculopathy.

    PubMed

    Corey, Joseph M

    2006-11-01

    Back pain is a frequent complaint seen in neurological practice. In evaluating back pain, neurologists are asked to evaluate patients for radiculopathy, determine whether they may benefit from surgery, and help guide management. Although disc herniation is the most common etiology of compressive radiculopathy, there are many other causes, including genetic disorders. This article is a discussion of genetic disorders that cause or contribute to radiculopathies. These genetic disorders include neurofibromatosis, Paget's disease of bone, and ankylosing spondylitis. Numerous genetic disorders can also lead to deformities of the spine, including spinal muscular atrophy, Friedreich's ataxia, Charcot-Marie-Tooth disease, familial dysautonomia, idiopathic torsional dystonia, Marfan's syndrome, and Ehlers-Danlos syndrome. However, the extent of radiculopathy caused by spine deformities is essentially absent from the literature. Finally, recent investigation into the heritability of disc degeneration and lumbar disc herniation suggests a significant genetic component in the etiology of lumbar disc disease. PMID:17048153

  15. Potato genetics, genomics, and applications

    PubMed Central

    Watanabe, Kazuo

    2015-01-01

    Potato has a variety of reproductive uniquenesses besides its clonal propagation by tubers. These traits are controlled by a different kind of genetic control. The reproductive information has been applied to enable interspecific hybridization to enhance valuable traits, such as disease and pest resistances, from the tuber-bearing Solanum gene pool. While progress has been made in potato breeding, many resources have been invested due to the requirements of large populations and long time frame. This is not only due to the general pitfalls in plant breeding, but also due to the complexity of polyploid genetics. Tetraploid genetics is the most prominent aspect associated with potato breeding. Genetic maps and markers have contributed to potato breeding, and genome information further elucidates questions in potato evolution and supports comprehensive potato breeding. Challenges yet remain on recognizing intellectual property rights to breeding and germplasm, and also on regulatory aspects to incorporate modern biotechnology for increasing genetic variation in potato breeding. PMID:25931980

  16. Genetic diversity in Trichomonas vaginalis.

    PubMed

    Meade, John C; Carlton, Jane M

    2013-09-01

    Recent advances in genetic characterisation of Trichomonas vaginalis isolates show that the extensive clinical variability in trichomoniasis and its disease sequelae are matched by significant genetic diversity in the organism itself, suggesting a connection between the genetic identity of isolates and their clinical manifestations. Indeed, a high degree of genetic heterogeneity in T vaginalis isolates has been observed using multiple genotyping techniques. A unique two-type population structure that is both local and global in distribution has been identified, and there is evidence of recombination within each group, although sexual recombination between the groups appears to be constrained. There is conflicting evidence in these studies for correlations between T vaginalis genetic identity and clinical presentation, metronidazole susceptibility, and the presence of T vaginalis virus, underscoring the need for adoption of a common standard for genotyping the parasite. Moving forward, microsatellite genotyping and multilocus sequence typing are the most robust techniques for future investigations of T vaginalis genotype-phenotype associations. PMID:23702460

  17. What Use Is Population Genetics?

    PubMed

    Charlesworth, Brian

    2015-07-01

    The Genetic Society of America's Thomas Hunt Morgan Medal is awarded to an individual GSA member for lifetime achievement in the field of genetics. For over 40 years, 2015 recipient Brian Charlesworth has been a leader in both theoretical and empirical evolutionary genetics, making substantial contributions to our understanding of how evolution acts on genetic variation. Some of the areas in which Charlesworth's research has been most influential are the evolution of sex chromosomes, transposable elements, deleterious mutations, sexual reproduction, and life history. He also developed the influential theory of background selection, whereby the recurrent elimination of deleterious mutations reduces variation at linked sites, providing a general explanation for the correlation between recombination rate and genetic variation. PMID:26170438

  18. What Use Is Population Genetics?

    PubMed Central

    Charlesworth, Brian

    2015-01-01

    The Genetic Society of America’s Thomas Hunt Morgan Medal is awarded to an individual GSA member for lifetime achievement in the field of genetics. For over 40 years, 2015 recipient Brian Charlesworth has been a leader in both theoretical and empirical evolutionary genetics, making substantial contributions to our understanding of how evolution acts on genetic variation. Some of the areas in which Charlesworth’s research has been most influential are the evolution of sex chromosomes, transposable elements, deleterious mutations, sexual reproduction, and life history. He also developed the influential theory of background selection, whereby the recurrent elimination of deleterious mutations reduces variation at linked sites, providing a general explanation for the correlation between recombination rate and genetic variation. PMID:26170438

  19. Genetic conflict, kin and the origins of novel genetic systems

    PubMed Central

    Normark, Benjamin B.; Ross, Laura

    2014-01-01

    Genetic conflict may have played an important role in the evolution of novel genetic systems. The ancestral system of eumendelian genetics is highly symmetrical. Those derived from it (e.g. thelytokous parthenogenesis, haplodiploidy and parent-specific allele expression) are more asymmetrical in the genetic role played by maternal versus paternal alleles. These asymmetries may have arisen from maternal–paternal genetic conflict, or cytonuclear conflict, or from an interaction between them. Asymmetric genetic systems are much more common in terrestrial and freshwater taxa than in marine taxa. We suggest three reasons for this, based on the relative inhospitability of terrestrial environments to three types of organism: (i) pathogens—departure from the marine realm meant escape from many pathogens and parasites, reducing the need for sexual reproduction; (ii) symbionts—symbionts are no more important in the terrestrial realm than the marine realm but are more likely to be obligately intracellular and vertically transmitted, making them more likely to disrupt their host's genetic systems; (iii) Gametes and embryos—because neither gametes nor embryos can be shed into air as easily as into seawater, the mother's body is a more important environment for both types of organisms in the terrestrial realm than in the marine realm. This environment of asymmetric kinship (with neighbours more closely related by maternal alleles than by paternal alleles) may have helped to drive asymmetries in expression and transmission. PMID:24686935

  20. Integrating Genetics and Social Science: Genetic Risk Scores

    PubMed Central

    Belsky, Daniel W.; Israel, Salomon

    2014-01-01

    The sequencing of the human genome and the advent of low-cost genome-wide assays that generate millions of observations of individual genomes in a matter of hours constitute a disruptive innovation for social science. Many public-use social science datasets have or will soon add genome-wide genetic data. With these new data come technical challenges, but also new possibilities. Among these, the lowest hanging fruit and the most potentially disruptive to existing research programs is the ability to measure previously invisible contours of health and disease risk within populations. In this article, we outline why now is the time for social scientists to bring genetics into their research programs. We discuss how to select genetic variants to study. We explain how the polygenic architecture of complex traits and the low penetrance of individual genetic loci pose challenges to research integrating genetics and social science. We introduce genetic risk scores as a method of addressing these challenges and provide guidance on how genetic risk scores can be constructed. We conclude by outlining research questions that are ripe for social science inquiry. PMID:25343363

  1. On Gene Concepts and Teaching Genetics: Episodes from Classical Genetics

    NASA Astrophysics Data System (ADS)

    Burian, Richard M.

    2013-02-01

    This paper addresses the teaching of advanced high school courses or undergraduate courses for non-biology majors about genetics or history of genetics. It will probably be difficult to take the approach described here in a high school science course, although the general approach could help improve such courses. It would be ideal for a college course in history of genetics or a course designed to teach non-science majors how science works or the rudiments of the genetics in a way that will help them as citizens. The approach aims to teach the processes of discovery, correction, and validation by utilizing illustrative episodes from the history of genetics. The episodes are treated in way that should foster understanding of basic questions about genes, the sorts of techniques used to answer questions about the constitution and structure of genes, how they function, and what they determine, and some of the major biological disagreements that arose in dealing with these questions. The material covered here could be connected to social and political issues raised by genetics, but these connections are not surveyed here. As it is, to cover this much territory, the article is limited to four major episodes from Mendel's paper to the beginning of World War II. A sequel will deal with the molecularization of genetics and with molecular gene concepts through the Human Genome Project.

  2. Xenomicrobiology: a roadmap for genetic code engineering.

    PubMed

    Acevedo-Rocha, Carlos G; Budisa, Nediljko

    2016-09-01

    Biology is an analytical and informational science that is becoming increasingly dependent on chemical synthesis. One example is the high-throughput and low-cost synthesis of DNA, which is a foundation for the research field of synthetic biology (SB). The aim of SB is to provide biotechnological solutions to health, energy and environmental issues as well as unsustainable manufacturing processes in the frame of naturally existing chemical building blocks. Xenobiology (XB) goes a step further by implementing non-natural building blocks in living cells. In this context, genetic code engineering respectively enables the re-design of genes/genomes and proteins/proteomes with non-canonical nucleic (XNAs) and amino (ncAAs) acids. Besides studying information flow and evolutionary innovation in living systems, XB allows the development of new-to-nature therapeutic proteins/peptides, new biocatalysts for potential applications in synthetic organic chemistry and biocontainment strategies for enhanced biosafety. In this perspective, we provide a brief history and evolution of the genetic code in the context of XB. We then discuss the latest efforts and challenges ahead for engineering the genetic code with focus on substitutions and additions of ncAAs as well as standard amino acid reductions. Finally, we present a roadmap for the directed evolution of artificial microbes for emancipating rare sense codons that could be used to introduce novel building blocks. The development of such xenomicroorganisms endowed with a 'genetic firewall' will also allow to study and understand the relation between code evolution and horizontal gene transfer. PMID:27489097

  3. Exploring the genetic basis of stroke. Spanish stroke genetics consortium.

    PubMed

    Giralt-Steinhauer, E; Jiménez-Conde, J; Soriano Tárraga, C; Mola, M; Rodríguez-Campello, A; Cuadrado-Godia, E; Ois, A; Fernández-Cádenas, I; Carrera, C; Montaner, J; Díaz Navarro, R M; Vives-Bauzá, C; Roquer, J

    2014-01-01

    This article provides an overview of stroke genetics studies ranging from the candidate gene approach to more recent studies by the genome wide association. It highlights the complexity of stroke owing to its different aetiopathogenic mechanisms, the difficulties in studying its genetic component, and the solutions provided to date. The study emphasises the importance of cooperation between the different centres, whether this takes places occasionally or through the creation of lasting consortiums. This strategy is currently essential to the completion of high-quality scientific studies that allow researchers to gain a better knowledge of the genetic component of stroke as it relates to aetiology, treatment, and prevention. PMID:23831412

  4. Genetical approach to gravitropism

    NASA Astrophysics Data System (ADS)

    Boonsirichai, K.; Chen, R.; Guan, C.; Rosen, E.; Young, L.; Masson, P.

    Gravitropism guides the growth of plant organs at a defined angle from the gravity vector. Accordingly, most roots grow downward, undergoing positive gravitropism. Gravity perception by roots appears to involve the sedimentation of amyloplasts within the columella cells of the cap. Amyloplast sedimentation triggers a signal transduction pathway that promotes the development of an auxin gradient across the root tip. This gradient is then transmitted to the elongation zones where it promotes a differential cellular elongation, partly responsible for the development of a root-tip curvature. To better understand the mechanisms involved in gravity signal transduction, we have identified and characterized several Arabidopsis thaliana mutants that show specific defects in root gravitropism. Several of these genes were characterized. ARG1 functions in gravity signal transduction, and encodes a dnaJ-like protein whose structure suggests an interaction with the cytoskeleton. Two other genes encode similar proteins (ARL1 and ARL2) in Arabidopsis. One of them (ARL2) also appears to function in gravity signal transduction. Because loss-of-function mutations in ARG1 result in partial alterations of gravitropism, we were able to identify and characterize two genetic enhancers of arg1-2: mar1-1 and mar2-1. These enhancers increased the gravitropism defect of arg1-2 roots and hypocotyls, and changed its orientation. Hence, MAR1 and MAR2 also appear to function in gravity signal transduction. AGR1, on the other hand, encodes a transmembrane component of the auxin efflux carrier complex involved in polar auxin transport through the elongation zones of Arabidopsis root tips. It belongs to a large gene family, several members of which are expressed in the root cap. Upon gravistimulation, the AGR3 protein appears to quickly relocate within the columella cells, accumulating in membranes at the new physical bottom. Hence, the gravity signal transduction pathway that includes the ARG1, ARL

  5. Genetics Home Reference: tetrasomy 18p

    MedlinePlus

    ... Donnell L, Hale DE, Cody JD. Adults with Chromosome 18 Abnormalities. J Genet Couns. 2015 Aug;24(4):663- ... J, Escamilla M. Psychiatric syndromes in individuals with chromosome 18 abnormalities. Am J Med Genet B Neuropsychiatr Genet. 2010 ...

  6. Genetics Home Reference: 47,XYY syndrome

    MedlinePlus

    ... Bender BG, Robinson A. Genetic counseling for sex chromosome abnormalities. Am J Med Genet. 2002 Jun 1;110( ... one prenatally diagnosed children and adolescents with sex chromosome abnormalities. Am J Med Genet. 2002 Jun 1;110( ...

  7. Genetics Home Reference: triple X syndrome

    MedlinePlus

    ... Bender BG, Robinson A. Genetic counseling for sex chromosome abnormalities. Am J Med Genet. 2002 Jun 1;110( ... one prenatally diagnosed children and adolescents with sex chromosome abnormalities. Am J Med Genet. 2002 Jun 1;110( ...

  8. Genetics Home Reference: short QT syndrome

    MedlinePlus

    ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ethnic groups? Genetic Changes Mutations in the KCNH2 , KCNJ2 , and KCNQ1 genes can cause short QT syndrome . These ...

  9. Genetics Home Reference: recurrent hydatidiform mole

    MedlinePlus

    ... Rashid Y, Sheridan E, Bonthron DT. Genetic and epigenetic analysis of recurrent hydatidiform mole. Hum Mutat. 2009 ... on PubMed Nguyen NM, Slim R. Genetics and Epigenetics of Recurrent Hydatidiform Moles: Basic Science and Genetic ...

  10. Crop Genetics: The Seeds of Revolution.

    ERIC Educational Resources Information Center

    DeYoung, H. Garrett

    1983-01-01

    Current research in plant genetics is described. Benefits of this research (which includes genetic engineering applications) will include reduction/elimination of crop diseases, assurance of genetic stability, and the creation of new crop varieties. (JN)

  11. Genetics and gastric cancer susceptibility

    PubMed Central

    Lu, Yan; Lu, Fang; Zeng, Sha; Sun, Suqing; Lu, Li; Liu, Lifeng

    2015-01-01

    Gastric cancer has high morbidity and mortality in China. It is ranked first in malignant tumors of the digestive system. Its etiology and pathogenesis are still unclear, but they may be associated with a variety of factors. Genetic susceptibility genes have become a research hotspot in China. Elucidating the genetic mechanisms of gastric cancer can facilitate achieving individualized prevention and developing more effective methods to reduce clinical adverse consequences, which has important clinical significance. Genetic susceptibility results from the influence of genetic factors or specific genetic defects that endow an individual’s offspring with certain physiological and metabolic features that are prone to certain diseases. Currently, studies on the genetic susceptibility genes of gastric cancer have become a hotspot. The purpose is to screen for the etiology of gastric cancer, search for gene therapy methods, and ultimately provide a scientific basis for the prevention and control of gastric cancer. This article reviews the current progress of studies on genetic susceptibility genes for gastric cancer. PMID:26309491

  12. Genetic influence on athletic performance

    PubMed Central

    Guth, Lisa M.; Roth, Stephen M.

    2014-01-01

    Purpose of review The purpose of this review is to summarize the existing literature on the genetics of athletic performance, with particular consideration for the relevance to young athletes. Recent findings Two gene variants, ACE I/D and ACTN3 R577X, have been consistently associated with endurance (ACE I/I) and power-related (ACTN3 R/R) performance, though neither can be considered predictive. The role of genetic variation in injury risk and outcomes is more sparsely studied, but genetic testing for injury susceptibility could be beneficial in protecting young athletes from serious injury. Little information on the association of genetic variation with athletic performance in young athletes is available; however, genetic testing is becoming more popular as a means of talent identification. Despite this increase in the use of such testing, evidence is lacking for the usefulness of genetic testing over traditional talent selection techniques in predicting athletic ability, and careful consideration should be given to the ethical issues surrounding such testing in children. Summary A favorable genetic profile, when combined with an optimal training environment, is important for elite athletic performance; however, few genes are consistently associated with elite athletic performance, and none are linked strongly enough to warrant their use in predicting athletic success. PMID:24240283

  13. [Genetics of congenital lipodystrophies].

    PubMed

    Buffet, A; Lombes, M; Caron, P

    2015-10-01

    Congenital lipodystrophies are heterogeneous genetic diseases, leading to the loss of adipose tissue. This loss of adipose tissue can be generalized or partial, thus defining different phenotypes. These lipodystrophies have a major metabolic impact, secondary to lipotoxicity. This lipotoxicity is responsible for insulin resistance, dyslipidemia and hepatic steatosis. The severity of the metabolic impact correlates with the severity of the loss of adipose tissue. Mutations in 15 predisposition genes are currently described; BSCL2 and AGPT2 genes are the major genes in the generalized forms. On the contrary, LMNA and PPARG gene mutations are recovered in partial lipodystrophies forms. These different genes encode for proteins involved in adipocyte physiology, altering adipocyte differentiation, triglycerides synthesis and lysis or playing a major role in the lipid droplet formation. Congenital lipodystrophies treatment is based on the management of metabolic comorbidities but recombinant leptin therapy appears to have promising results. These different points have been recently discussed during the 2015 Endocrine Society Congress, notably by S. O'Rahilly and are highlighted in this review. PMID:26776286

  14. Genetic kidney diseases

    PubMed Central

    Hildebrandt, Friedhelm

    2010-01-01

    Knowledge of the primary cause of a disease is essential for understanding its mechanisms and for adequate classification, prognosis, and treatment. Recently, the etiologies of many kidney diseases have been revealed as single-gene defects. This is exemplified by steroid-resistant nephrotic syndrome, which is caused by podocin mutations in ~25% of childhood and ~15% of adult cases. Knowledge of a disease-causing mutation in a single-gene disorder represents one of the most robust diagnostic examples of “personalized medicine”, because the mutation conveys an almost 100% risk of developing the disease by a certain age. Whereas single-gene diseases are rare disorders, polygenic “risk alleles” are found in common adult-onset diseases. This review will discuss prominent renal single-gene kidney disorders and polygenic risk alleles of common disorders. We delineate how emerging techniques of total exome capture and large-scale sequencing will facilitate molecular genetic diagnosis, prognosis and specific therapy and lead to a better understanding of disease mechanisms, thus enabling development of new targeted drugs. PMID:20382325

  15. [Genetics of lupus erythematosus].

    PubMed

    Günther, Claudia

    2015-02-01

    Lupus erythematosus is a prototypic autoimmune disease that can be triggered in genetically predisposed individuals by environmental exposures. The disease is based on an uncontrolled activation of the immune system that recognizes self antigens and induces inflammatory disease flares. The multifactorial pathogenesis is based on a polygenic model of inheritance with multiple various susceptibility genes elevating the disease risk. Many of these polymorphisms have been recently identified by genome-wide association studies. Monogenic forms of lupus erythematosus are rare. The identification of their underlying pathogenesis is important for the recognition of main mechanistic pathways in lupus as demonstrated by the history of defects in the complement system. The monogenic, autosomal dominant inherited familial chilblain lupus is characterized by cold-induced infiltrates on acral locations occurring in early childhood. Molecular exploration of the disease pathogenesis revealed that autoimmunity and especially lupus erythematosus can be induced by defects in intracellular elimination of nucleic acids and the subsequent type I-IFN-dependent activation of the innate immune system. This mechanism extends the concept of lupus pathogenesis: both defects in the extra- and intracellular elimination of autoantigens can lead to activation of the innate and adaptive immune system. PMID:25659384

  16. Pancreatic Cancer Genetics

    PubMed Central

    Amundadottir, Laufey T.

    2016-01-01

    Although relatively rare, pancreatic tumors are highly lethal [1]. In the United States, an estimated 48,960 individuals will be diagnosed with pancreatic cancer and 40,560 will die from this disease in 2015 [1]. Globally, 337,872 new pancreatic cancer cases and 330,391 deaths were estimated in 2012 [2]. In contrast to most other cancers, mortality rates for pancreatic cancer are not improving; in the US, it is predicted to become the second leading cause of cancer related deaths by 2030 [3, 4]. The vast majority of tumors arise in the exocrine pancreas, with pancreatic ductal adenocarcinoma (PDAC) accounting for approximately 95% of tumors. Tumors arising in the endocrine pancreas (pancreatic neuroendocrine tumors) represent less than 5% of all pancreatic tumors [5]. Smoking, type 2 diabetes mellitus (T2D), obesity and pancreatitis are the most consistent epidemiological risk factors for pancreatic cancer [5]. Family history is also a risk factor for developing pancreatic cancer with odds ratios (OR) ranging from 1.7-2.3 for first-degree relatives in most studies, indicating that shared genetic factors may play a role in the etiology of this disease [6-9]. This review summarizes the current knowledge of germline pancreatic cancer risk variants with a special emphasis on common susceptibility alleles identified through Genome Wide Association Studies (GWAS). PMID:26929738

  17. Genetics of proteasome diseases.

    PubMed

    Gomes, Aldrin V

    2013-01-01

    The proteasome is a large, multiple subunit complex that is capable of degrading most intracellular proteins. Polymorphisms in proteasome subunits are associated with cardiovascular diseases, diabetes, neurological diseases, and cancer. One polymorphism in the proteasome gene PSMA6 (-8C/G) is associated with three different diseases: type 2 diabetes, myocardial infarction, and coronary artery disease. One type of proteasome, the immunoproteasome, which contains inducible catalytic subunits, is adapted to generate peptides for antigen presentation. It has recently been shown that mutations and polymorphisms in the immunoproteasome catalytic subunit PSMB8 are associated with several inflammatory and autoinflammatory diseases including Nakajo-Nishimura syndrome, CANDLE syndrome, and intestinal M. tuberculosis infection. This comprehensive review describes the disease-related polymorphisms in proteasome genes associated with human diseases and the physiological modulation of proteasome function by these polymorphisms. Given the large number of subunits and the central importance of the proteasome in human physiology as well as the fast pace of detection of proteasome polymorphisms associated with human diseases, it is likely that other polymorphisms in proteasome genes associated with diseases will be detected in the near future. While disease-associated polymorphisms are now readily discovered, the challenge will be to use this genetic information for clinical benefit. PMID:24490108

  18. Genetic aspects of pheochromocytoma.

    PubMed

    Kolačkov, Katarzyna; Tupikowski, Krzysztof; Bednarek-Tupikowska, Grażyna

    2012-01-01

    Pheochromocytomas are derived from chromaffin cells of the adrenal medulla which synthesize and secrete catecholamines, thus affecting the cardiovascular system and metabolic processes. Pheochromocytoma is a tumor of the following multicarcinoma hereditary syndromes: type 2 multiple endocrine neoplasia, von Hippel-Lindau disease, type 1 neurofibromatosis and the pheochromocytomas/paragangliomas syndrome. Pheochromocytomas are relatively rare, and because of non-specific manifestation of these tumors and the possible lack of signs and symptoms for extended periods of time, the diagnosis may be delayed, which may, in turn, lead to death. Pheochromocytomas may occur sporadically. However, due to the frequent incidence of hereditary forms of these cancers, the presymptomatic genetic testing of family members with a positive family history is indicated, thus allowing for selecting people with higher risk of cancer. Early detection of the syndrome and the coexisting tumors (which may be malignant) may lead to a correct diagnosis, regular surveillance, preventive examinations and implementation of appropriate early treatment. Recent examinations have shown significant involvement of RET, VHL, NF1, SDHB and SDHD as well as the newly discovered KIF1Bβ, TMEM127 and MAX genes in pathogenesis of these tumors. The microarray-gene expression studies, based on the analysis of cellular pathways, have revealed two distinct clusters indicating two different routes of tumorgenesis. The genotype-phenotype correlations are still being studied and future research can give us clearer information about the function of these genes, which may prove crucial from the clinical point of view. PMID:23457139

  19. Genetic susceptibility to radiation

    NASA Astrophysics Data System (ADS)

    Hall, E. J.; Brenner, D. J.; Worgul, B.; Smilenov, L.

    In the context of space radiation, it is important to know whether the human population includes genetically predisposed radiosensitive subsets. One possibility is that haploinsufficiency for ATM confers radiosensitivity, and this defect involves 1 3% of the population. Using knock-out mice we chose to study cataractogenesis in the lens and oncogenic transformation in mouse embryo fibroblasts to assay for effects of ATM deficiency. Radiation induced cataracts appeared earlier in the heterozygous versus wild-type animals following exposure to either gamma rays or 1 GeV/nucleon iron ions. In addition, it was found that embryo fibroblasts of Atm heterozygotes showed an increased incidence of oncogenic transformation compared with their normal litter-matched counterparts. From these data we suggest that Ataxia Telangiectasia heterozygotes could indeed represent a societally significant radiosensitive subpopulation. Knock-out mice are now available for other genes including BRCA1 and 2, and Mrad9. An exciting possibility is the creation of double heterozygotes for pairs of mutated genes that function in the same signal transduction pathway, and consequently confer even greater radiosensitivity.

  20. Imaging genetics and psychiatric disorders.

    PubMed

    Hashimoto, R; Ohi, K; Yamamori, H; Yasuda, Y; Fujimoto, M; Umeda-Yano, S; Watanabe, Y; Fukunaga, M; Takeda, M

    2015-01-01

    Imaging genetics is an integrated research method that uses neuroimaging and genetics to assess the impact of genetic variation on brain function and structure. Imaging genetics is both a tool for the discovery of risk genes for psychiatric disorders and a strategy for characterizing the neural systems affected by risk gene variants to elucidate quantitative and mechanistic aspects of brain function implicated in psychiatric disease. Early studies of imaging genetics included association analyses between brain morphology and single nucleotide polymorphisms whose function is well known, such as catechol-Omethyltransferase (COMT) and brain-derived neurotrophic factor (BDNF). GWAS of psychiatric disorders have identified genes with unknown functions, such as ZNF804A, and imaging genetics has been used to investigate clues of the biological function of these genes. The difficulty in replicating the findings of studies with small sample sizes has motivated the creation of largescale collaborative consortiums, such as ENIGMA, CHARGE and IMAGEN, to collect thousands of images. In a genome-wide association study, the ENIGMA consortium successfully identified common variants in the genome associated with hippocampal volume at 12q24, and the CHARGE consortium replicated this finding. The new era of imaging genetics has just begun, and the next challenge we face is the discovery of small effect size signals from large data sets obtained from genetics and neuroimaging. New methods and technologies for data reduction with appropriate statistical thresholds, such as polygenic analysis and parallel independent component analysis (ICA), are warranted. Future advances in imaging genetics will aid in the discovery of genes and provide mechanistic insight into psychiatric disorders. PMID:25732148