89 research outputs found
Röntgenbeugungsdaten für "Die Bildung nukleophiler Allylborane aus molekularem Wasserstoff und Allenen katalysiert durch ein Pyridonatboran, das die Reaktivität eines frustrierten Lewis‐Paares zeigt"
No full textRaw X-ray diffraction images for the publication M. Hasenbeck, S. Ahles, A. Averdunk, J. Becker, U. Gellrich, Angew. Chem. Int. Ed. 2020, 59, 23885 "Formation of Nucleophilic Allylboranes from Molecular Hydrogen and Allenes Catalyzed by a Pyridonate Borane that Displays Frustrated Lewis Pair Reactivity" https://doi.org/10.1002/anie.202011790.
File format is the Bruker sfrm frame format. The data can be processed with the SAINT program by BRUKER AXS or using alternative and/or open source tools as XDS ( http://xds.mpimf-heidelberg.mpg.de/ ) together with sfrmtools ( https://homepage.univie.ac.at/tim.gruene/research/programs/conv/sfrmtools/ ) or FabIO ( Knudsen, E. B., Sorensen, H. O., Wright, J. P., Goret, G. & Kieffer, J. (2013). J. Appl. Cryst. 46, 537-539. ). FabIO provides the following information about the file format: "The bruker format uses 80 char lines in key : value format. In the first 512*5 bytes of the header there should be a HDRBLKS key, whose value denotes how many 512 byte blocks are in the total header. The header is always n*5*512 bytes, otherwise it wont contain whole key: value pairs. Data is stored in three blocks: 1. data (uint8) 2. overflow (uint32) 3. underflow (int32). The blocks are zero padded to a multiple of 16 bits.FCIDF
Comparison of estimated breeding values, daughter yield deviations and de-regressed proofs within a whole genome scan for QTL
No full textThe definitive version is available at www.blackwell-synergy.comAn important issue in quantitative trait loci (QTL) detection is the use of phenotypic measurement as a dependent variable. Daughter yield deviations (DYDs) as the unit of choice are not available for all traits of interest. The use of de-regressed proofs (DRPFs) of estimated breeding values (EBVs) is an alternative to using daughter yield deviations. The objective of this study was to examine possible differences between DYDs and DRPFs within the use of QTL detection. The pedigree used was part of the granddaughter design of the German QTL effort. Consisting marker maps for livestock species were derived from all available data of 16 German Holstein paternal half-sib families with a total of 872 sires. The number of progeny ranged from 19 to 127. A whole genome scan was performed using weighted and unweighted multimarker regression with DYDs, DRPFs and EBVs as dependent variables for the traits milk, fat and protein yields. Results were compared with respect to the number of QTL detected. A similar number of QTL was detected with DRPFs and DYDs. Also, when dependent variables were weighted according to the variance of the trait, a higher number of QTL was detected at the desired level of significance as compared to using unweighted variables.H Thomsen, N Reinsch, N Xu, C Looft, S Grupe, C Kühn, G. A Brockmann, M Schwerin, B Leyhe-Horn, S Hiendleder, G Erhardt, I Medjugorac, I Russ, M Förster, B Brenig, F Reinhardt, R Reents, J Blümel, G Averdunk, E Kal
Quantitative trait loci mapping of functional traits in the German Holstein cattle population
No full textCopyright © 2003 American Dairy Science AssociationA whole-genome scan to detect quantitative trait loci (QTL) for functional traits was performed in the German Holstein cattle population. For this purpose, 263 genetic markers across all autosomes and the pseudoautosomal region of the sex chromosomes were genotyped in 16 granddaughter-design families with 872 sons. The traits investigated were deregressed breeding values for maternal and direct effects on dystocia (DYSm, DYSd) and stillbirth (STIm, STId) as well as maternal and paternal effects on nonreturn rates of 90 d (NR90m, NR90p). Furthermore, deregressed breeding values for functional herd life (FHL) and daughter yield deviation for somatic cell count (SCC) were investigated. Weighted multimarker regression analyses across families and permutation tests were applied for the detection of QTL and the calculation of statistical significance. A ten percent genomewise significant QTL was localized for DYSm on chromosome 8 and for SCC on chromosome 18. A further 24 putative QTL exceeding the 5% chromosomewise threshold were detected. On chromosomes 7, 8, 10, 18, and X/Yps, coincidence of QTL for several traits was observed. Our results suggest that loci with influence on udder health may also contribute to genetic variance of longevity. Prior to implementation of these QTL in marker assisted selection programs for functional traits, information about direct and correlated effects of these QTL as well as fine mapping of their chromosomal positions is required.Ch. Kühn, J. Bennewitz, N. Reinsch, N. Xu, H. Thomsen, C. Looft, G. A. Brockmann, M. Schwerin, C. Weimann, S. Hiendleder, G. Erhardt, I. Medjugorac, M. Förster, B. Brenig, F. Reinhardt, R. Reents, I. Russ, G. Averdunk, J. Blümel and E. Kal
A whole genome scan for differences in recombination rates among three Bos taurus breeds
No full textThe original publication can be found at www.springerlink.comTwenty paternal half-sib families of a granddaughter design were genotyped for 265 genetic markers, most of them microsatellites. These were 16 Holstein families, 3 Simmental families, and 1 Brown Swiss family. The number of sires per breed was 872, 170, and 32, respectively. Two-point recombination rates were estimated both jointly for all breeds and each single breed separately. Of 1168 marker intervals, 865 provided estimates for at least two breeds. Differences between breeds were tested by likelihood ratio tests. Four marker intervals, representing three genomic regions on BTA19, BTA24, and BTA27, show a significant impact of the breed at a false discovery rate of 0.23 and indicate a genetic component of observed heterogeneity of recombination. The variability of recombination rates between cattle breeds might not be a common feature of the whole genome, but rather might be restricted to certain chromosomal segments. Thus, attention should be paid to heterogeneities when pooling data of such regions from different breeds.Hauke Thomsen, Norbert Reinsch, Ningying Xu, Jörn Bennewitz, Christian Looft, Sven Grupe, Christa Kühn, Gudrun A. Brockmann, Manfred Schwerin, Birgit Leyhe-Horn, Stefan Hiendleder, Georg Erhardt, Ivica Medjugorac, Ingolp Russ, Martin Förster, Bertram Brenig, Fritz Reinhardt, Reinhard Reents, Jürgen Blümel, Gottfried Averdunk, Ernst Kal
Recognizable pattern of arthrogryposis and congenital myopathy caused by the recurrent TTN metatranscript-only c.39974-11T>G splice variant
No full textIntroduction:Arthrogryposis is characterized by the presence of multiple contractures at birth and can be caused by pathogenic variants in TTN (Titin). Exons and variants that are not expressed in one of the three major isoforms of titin are referred to as “metatranscript-only” and have been considered to be only expressed during fetal development. Recently, the metatranscript-only variant (c.39974-11T>G) in TTN with a second truncating TTN variant has been linked to arthrogryposis multiplex congenita and myopathy. Methods: Via exome sequencing we identified the TTN c.39974-11T>G splice variant in trans with one of three truncating variants (p.Arg8922 , p.Lys32998Asnfs 63), p.Tyr10345 ) in five individuals from three families. Clinical presentation and muscle ultrasound as well as MRI images were analyzed. Results: All five patients presented with generalized muscular hypotonia, reduced muscle bulk and congenital contractures most prominently affecting the upper limbs and distal joints. Muscular hypotonia persisted and contractures improved over time. One individual, the recipient twin in the setting of twin-to-twin transfusion syndrome, died from severe cardiac hypertrophy one day after birth. Ultrasound and MRI imaging studies revealed a recognizable pattern of muscle involvement with striking fibrofatty involvement in the hamstrings and calves, and relative sparing of the femoral adductors and anterior segment of the thighs. Conclusion:The recurrent TTN c.39974-11T>G variant consistently causes congenital arthrogryposis and persisting myopathy providing evidence that the metatranscript-only 213-217 exons impact muscle elasticity during early development and beyond. There is a recognizable pattern of muscle involvement, which is distinct from other myopathies and provides valuable clues for diagnostic work
Combined analysis of data from two granddaughter designs: A simple strategy for QTL confirmation and increasing experimental power in dairy cattle
No full textA joint analysis of five paternal half-sib Holstein families that were part of two different granddaughter designs (ADR- or Inra-design) was carried out for five milk production traits and somatic cell score in order to conduct a QTL confirmation study and to increase the experimental power. Data were exchanged in a coded and standardised form. The combined data set (JOINT-design) consisted of on average 231 sires per grandsire. Genetic maps were calculated for 133 markers distributed over nine chromosomes. QTL analyses were performed separately for each design and each trait. The results revealed QTL for milk production on chromosome 14, for milk yield on chromosome 5, and for fat content on chromosome 19 in both the ADR- and the Inra-design (confirmed within this study). Some QTL could only be mapped in either the ADR- or in the Inra-design (not confirmed within this study). Additional QTL previously undetected in the single designs were mapped in the JOINT-design for fat yield (chromosome 19 and 26), protein yield (chromosome 26), protein content (chromosome 5), and somatic cell score (chromosome 2 and 19) with genomewide significance. This study demonstrated the potential benefits of a combined analysis of data from different granddaughter designs.Jörn Bennewitz, Norbert Reinsch, Cécile Grohs, Hubert Levéziel, Alain Malafosse, Hauke Thomsen, Ningying Xu, Christian Looft, Christa Kühn, Gudrun A. Brockmann, Manfred Schwerin, Christina Weimann, Stefan Hiendleder, Georg Erhardt, Ivica Medjugorac, Ingolf Russ, Martin Förster, Bertram Brenig, Fritz Reinhardt, Reinhard Reents, Gottfried Averdunk, Jürgen Blümel, Didier Boichard and Ernst Kal
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