SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Grahn Bruce) "

Sökning: WFRF:(Grahn Bruce)

  • Resultat 1-3 av 3
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Tidskriftsartikel (refereegranskat)
  •  
2.
  • Bellone, Rebecca R, et al. (författare)
  • Fine-mapping and mutation analysis of TRPM1 : a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses
  • 2010
  • Ingår i: Briefings in Functional Genomics & Proteomics. - 1473-9550 .- 1477-4062. ; 9:3, s. 193-207
  • Tidskriftsartikel (refereegranskat)abstract
    • Leopard Complex spotting occurs in several breeds of horses and is caused by an incompletely dominant allele (LP). Homozygosity for LP is also associated with congenital stationary night blindness (CSNB) in Appaloosa horses. Previously, LP was mapped to a 6 cm region on ECA1 containing the candidate gene TRPM1 (Transient Receptor Potential Cation Channel, Subfamily M, Member 1) and decreased expression of this gene, measured by qRT-PCR, was identified as the likely cause of both spotting and ocular phenotypes. This study describes investigations for a mutation causing or associated with the Leopard Complex and CSNB phenotype in horses. Re-sequencing of the gene and associated splice sites within the 105 624 bp genomic region of TRPM1 led to the discovery of 18 SNPs. Most of the SNPs did not have a predictive value for the presence of LP. However, one SNP (ECA1:108,249,293 C>T) found within intron 11 had a strong (P < 0.0005), but not complete, association with LP and CSNB and thus is a good marker but unlikely to be causative. To further localize the association, 70 SNPs spanning over two Mb including the TRPM1 gene were genotyped in 192 horses from three different breeds segregating for LP. A single 173 kb haplotype associated with LP and CSNB (ECA1: 108,197,355- 108,370,150) was identified. Illumina sequencing of 300 kb surrounding this haplotype revealed 57 SNP variants. Based on their localization within expressed sequences or regions of high sequence conservation across mammals, six of these SNPs were considered to be the most likely candidate mutations. While the precise function of TRPM1 remains to be elucidated, this work solidifies its functional role in both pigmentation and night vision. Further, this work has identified several potential regulatory elements of the TRPM1 gene that should be investigated further in this and other species.
  •  
3.
  • Boso, A., et al. (författare)
  • Isospin dependence of electromagnetic transition strengths among an isobaric triplet
  • Ingår i: Physics Letters, Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier. - 0370-2693 .- 1873-2445. ; 797
  • Tidskriftsartikel (refereegranskat)abstract
    • Electric quadrupole matrix elements, Mp, for the Jπ=2+→0+, ΔT=0, T=1 transitions across the A=46 isobaric multiplet 46Cr-46V-46Ti have been measured at GSI with the FRS-LYCCA-AGATA setup. This allows direct insight into the isospin purity of the states of interest by testing the linearity of Mp with respect to Tz. Pairs of nuclei in the T=1 triplet were studied using identical reaction mechanisms in order to control systematic errors. The Mp values were obtained with two different methodologies: (i) a relativistic Coulomb excitation experiment was performed for 46Cr and 46Ti; (ii) a “stretched target” technique was adopted here, for the first time, for lifetime measurements in 46V and 46Ti. A constant value of Mp across the triplet has been observed. Shell-model calculations performed within the fp shell fail to reproduce this unexpected trend, pointing towards the need of a wider valence space. This result is confirmed by the good agreement with experimental data achieved with an interaction which allows excitations from the underlying sd shell. A test of the linearity rule for all published data on complete T=1 isospin triplets is presented.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-3 av 3
 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy