Search results for "GENOMICS"
showing 10 items of 1255 documents
The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects
2010
Contains fulltext : 96400.pdf (Publisher’s version ) (Closed access) Intelligence is a highly heritable trait for which it has proven difficult to identify the actual genes. In the past decade, five whole-genome linkage scans have suggested genomic regions important to human intelligence; however, so far none of the responsible genes or variants in those regions have been identified. Apart from these regions, a handful of candidate genes have been identified, although most of these are in need of replication. The recent growth in publicly available data sets that contain both whole genome association data and a wealth of phenotypic data, serves as an excellent resource for fine mapping and …
Genetic and Chemical Modifiers Of A CUG Toxicity Model in Drosophila
2007
Non-coding CUG repeat expansions interfere with the activity of human Muscleblind-like (MBNL) proteins contributing to myotonic dystrophy 1 (DM1). To understand this toxic RNA gain-of-function mechanism we developed a Drosophila model expressing 60 pure and 480 interrupted CUG repeats in the context of a non-translatable RNA. These flies reproduced aspects of the DM1 pathology, most notably nuclear accumulation of CUG transcripts, muscle degeneration, splicing misregulation, and diminished Muscleblind function in vivo. Reduced Muscleblind activity was evident from the sensitivity of CUG-induced phenotypes to a decrease in muscleblind genetic dosage and rescue by MBNL1 expression, and furthe…
Cyclobutane Pyrimidine Photodimerization of DNA/RNA Nucleobases in the Triplet State
2010
The photoinduced formation of cyclobutane pyrimidine dimers in the triplet excited state of the DNA/RNA pyrimidine nucleobases pairs has been studied at the CASPT2 level of theory. A stepwise mechanism through the triplet state of the homodimer is proposed for the pairs of nucleobases cytosine, thymine, and uracil involving a singlet−triplet crossing intermediary structure of biradical character representing the most favorable triplet state conformation of the nucleobases as found in the DNA environment. The efficiency of the mechanism will be modulated by two factors: the effectiveness of the triplet−triplet energy transfer process from a donor photosensitizer molecule, which relates to th…
A deterministic simulation study of embryo marker-assisted selection for age at first calving in Nellore (Bos indicus) beef cattle
2007
Submitted by Guilherme Lemeszenski (guilherme@nead.unesp.br) on 2013-08-22T19:04:58Z No. of bitstreams: 1 S1415-47572007000400008.pdf: 85300 bytes, checksum: 7422029b120457123fb366c1bd71e758 (MD5) Made available in DSpace on 2013-08-22T19:04:58Z (GMT). No. of bitstreams: 1 S1415-47572007000400008.pdf: 85300 bytes, checksum: 7422029b120457123fb366c1bd71e758 (MD5) Previous issue date: 2007-01-01 Made available in DSpace on 2013-09-30T20:08:32Z (GMT). No. of bitstreams: 2 S1415-47572007000400008.pdf: 85300 bytes, checksum: 7422029b120457123fb366c1bd71e758 (MD5) S1415-47572007000400008.pdf.txt: 39461 bytes, checksum: 2796161439379a834535eeaff8aac2ba (MD5) Previous issue date: 2007-01-01 Submitt…
CoproID predicts the source of coprolites and paleofeces using microbiome composition and host DNA content
2020
Shotgun metagenomics applied to archaeological feces (paleofeces) can bring new insights into the composition and functions of human and animal gut microbiota from the past. However, paleofeces often undergo physical distortions in archaeological sediments, making their source species difficult to identify on the basis of fecal morphology or microscopic features alone. Here we present a reproducible and scalable pipeline using both host and microbial DNA to infer the host source of fecal material. We apply this pipeline to newly sequenced archaeological specimens and show that we are able to distinguish morphologically similar human and canine paleofeces, as well as non-fecal sediments, fro…
Decoding tuberculosis transmission and drug resistance in Valencia Region using whole genome sequencing
2020
La tuberculosis (TB) es una enfermedad infecciosa causada y transmitida por miembros patógenos que pertenecen al complejo de Mycobacterium tuberculosis (MTBC). En el 2018, la Organización Mundial de la Salud (OMS) estimó que 10 millones de personas se infectaron de TB, de los cuales, 1,45 millones de casos murieron a causa de esta. Con estos números, la TB es una de las diez principales causas de muerte en todo el mundo. La TB se transmite por el aire a través de gotas en aerosol generadas al toser por una persona contagiada, por lo que, el sitio de infección más común es el sistema respiratorio. La transmisión es la causa principal de TB en países de alta y baja incidencia. Por este motivo…
Spine and test skeletal matrices of the Mediterranean sea urchinArbacia lixula- a comparative characterization of their sugar signature
2015
15 pages; International audience; Calcified structures of sea urchins are biocomposite materials that comprise a minor fraction of organic macromolecules, such as proteins, glycoproteins and polysaccharides. These macromolecules are thought to collectively regulate mineral deposition during the process of calcification. When occluded, they modify the properties of the mineral. In the present study, the organic matrices (both soluble and insoluble in acetic acid) of spines and tests from the Mediterranean black sea urchin Arbacia lixula were extracted and characterized, in order to determine whether they exhibit similar biochemical signatures. Bulk characterizations were performed by mono-di…
Analysing gene flow in heterogeneous landscapes: why and how to use genetic graphs?
2019
International audience; In heterogeneous landscapes, when species occupy discrete habitat patches, ecological connectivity is influenced by populations’ topology. Graph-theoretic methods constitute a relevant tool to reveal this topology and better analyse gene flow. Despite growing interest in genetic graphs, a better understanding of when and how to use them is lacking.To fill this gap, we simulated gene flow between 50 populations in different landscape configurations and constructed genetic graphs using various genetic distances and pruning (link selection) methods. We then compared metrics derived from these graphs to analogous metrics describing the topology and connectivity of the di…
The role of the European Society of Human Genetics in delivering genomic education
2021
The European Society of Human Genetics (ESHG) was founded in 1967 as a professional organisation for members working in genetics in clinical practice, research and education. The Society seeks the integration of scientific research and its implementation into clinical practice and the education of specialists and the public in all areas of medical and human genetics. The Society works to do this through many approaches, including educational sessions at the annual conference; training courses in general and specialist areas of genetics; an online resource of educational materials (EuroGEMS); and a mentorship scheme. The ESHG Education Committee is implementing new approaches to expand the r…
The Population Genomics of Anopheles gambiae Species Complex: Progress and Prospects
2021
Anopheles gambiae sensu lato is a species complex containing principal malaria vectors such as An. gambiae sensu stricto, An. coluzzii, and An. arabiensis. Numerous studies have shown dynamic species hybridization among member of this complex makes them an ideal model for studying evolution and speciation as well as for applied vector biology. Applying a population genomics approach to the An. gambiae and An. coluzzii species group has led to a number of important and epidemiologically relevant insights including: (1) organization of genomic divergence into “islands of speciation”; (2) competing models of population origin of An. gambiae and An. Coluzzii; (3) description of asymmetric intro…