Early-onset progressive retinal atrophy associated with an IQCB1 variant in African black-footed cats (Felis nigripes)

African black-footed cats (Felis nigripes) are endangered wild felids. One male and full-sibling female African black-footed cat developed vision deficits and mydriasis as early as 3 months of age. The diagnosis of early-onset progressive retinal atrophy (PRA) was supported by reduced direct and consensual pupillary light reflexes, phenotypic presence of retinal degeneration, and a non-recordable electroretinogram with negligible amplitudes in both eyes. Whole genome sequencing, conducted on two unaffected parents and one affected offspring was compared to a variant database from 51 domestic cats and a Pallas cat, revealed 50 candidate variants that segregated concordantly with the PRA phenotype. Testing in additional affected cats confirmed that cats homozygous for a 2 base pair (bp) deletion within IQ calmodulin-binding motif-containing protein-1 (IQCB1), the gene that encodes for nephrocystin-5 (NPHP5), had vision loss. The variant segregated concordantly in other related individuals within the pedigree supporting the identification of a recessively inherited early-onset feline PRA. Analysis of the black-footed cat studbook suggests additional captive cats are at risk. Genetic testing for IQCB1 and avoidance of matings between carriers should be added to the species survival plan for captive management

Nature of the Magnetic Order and Origin of Induced Ferroelectricity in TbMnO3

The magnetic structures which endow TbMnO3 with its multiferroic properties have been reassessed on the basis of a comprehensive soft x-ray resonant scattering (XRS) study. The selectivity of XRS facilitated separation of the various contributions (Mn L-2 edge, Mn 3d moments; Tb M-4 edge, Tb 4f moments), while its variation with azimuth provided information on the moment direction of distinct Fourier components. When the data are combined with a detailed group theory analysis, a new picture emerges of the ferroelectric transition at 28 K. Instead of being driven by the transition from a collinear to a noncollinear magnetic structure, as has previously been supposed, it is shown to occur between two noncollinear structures

A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats

British shorthair (BSH) kittens in multiple litters died as a result of a severe non-neoplastic lymphoproliferative disease that showed many similarities with human autoimmune lymphoproliferative syndrome (ALPS). Human ALPS is caused by inherited defects in FAS-mediated lymphocyte apoptosis and the possibility of similar defects was investigated in BSH cats. The whole genomes of two affected kittens were sequenced and compared to 82 existing cat genomes. Both BSH kittens had homozygous insertions of an adenine within exon 3 of the FAS-ligand gene. The resultant frameshift and premature stop codon were predicted to result in a severely truncated protein that is unlikely to be able to activate FAS. Three additional affected BSH kittens were homozygous for the variant, while 11 of 16 unaffected, but closely related, BSH cats were heterozygous for the variant. All BSH cats in the study were from a population with significant inbreeding. The variant was not identified in a further survey of 510 non-BSH cats. Identification of a genetic defect in the FAS-mediated apoptosis pathway confirms that the lymphoproliferative disease in BSH cats fulfills the diagnostic criteria for ALPS in humans. These results will enable the development of a genetic test to detect BSH carrier animals

REXS contribution to electronic ordering investigation in solids

Resonant Elastic X-Ray Scattering (REXS) has played a fundamental role in understanding electronic properties and in revealing hidden order, local symmetries and exotic states realized in correlated solids. This article reports on some of the relevant scientific contributions and technical advances over the last 20 years, by providing a list of related publications produced by various groups all around the world. The given perspective is that of a group of young scientists involved at various times in the investigation of the beauty of electronic ordering by the REXS technique. © 2012 EDP Sciences, Springer-Verlag

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

[[sponsorship]]生物化學研究所[[note]]已出版;[SCI];有審查制度;具代表性[[note]]http://gateway.isiknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=Drexel&SrcApp=hagerty_opac&KeyRecord=1554-8627&DestApp=JCR&RQ=IF_CAT_BOXPLO