Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy

Inherited optic neuropathies (IONs) are rare genetic diseases characterized by progressive visual loss due the atrophy of optic nerves. The standard diagnostic workup involving next-generation sequencing panels has a diagnostic yield of about forty percent. In the other 60% of the patients with a clinical diagnosis of ION, the underlying genetic variants remain unknown. In this case study, we describe a potentially new disease-associated gene, NSUN3, for IONs. The proband was a young woman with consanguineous parents. She presented with bilateral optic atrophy and nystagmus at the age of seven years. Genetic testing revealed the homozygous variant c.349_352dup p.(Ala118Glufs*45) in NSUN3, with a segregation in the family compatible with autosomal recessive inheritance. Additional functional analysis showed decreased NSUN3 mRNA levels, slightly diminished mitochondrial complex IV levels, and decreased cell respiration rates in patient fibroblasts compared to healthy controls. In conclusion, pathogenic variants in NSUN3 can cause optic neuropathy. Trio whole-exome sequencing should be considered as a diagnostic strategy in ION cases where standard diagnostic analysis does not reveal disease-causing variants

Search for heavy resonances decaying to two Higgs bosons in final states containing four b quarks

A search is presented for narrow heavy resonances X decaying into pairs of Higgs bosons (H) in proton-proton collisions collected by the CMS experiment at the LHC at root s = 8 TeV. The data correspond to an integrated luminosity of 19.7 fb(-1). The search considers HH resonances with masses between 1 and 3 TeV, having final states of two b quark pairs. Each Higgs boson is produced with large momentum, and the hadronization products of the pair of b quarks can usually be reconstructed as single large jets. The background from multijet and t (t) over bar events is significantly reduced by applying requirements related to the flavor of the jet, its mass, and its substructure. The signal would be identified as a peak on top of the dijet invariant mass spectrum of the remaining background events. No evidence is observed for such a signal. Upper limits obtained at 95 confidence level for the product of the production cross section and branching fraction sigma(gg -> X) B(X -> HH -> b (b) over barb (b) over bar) range from 10 to 1.5 fb for the mass of X from 1.15 to 2.0 TeV, significantly extending previous searches. For a warped extra dimension theory with amass scale Lambda(R) = 1 TeV, the data exclude radion scalar masses between 1.15 and 1.55 TeV

Measurement of the top quark mass using charged particles in pp collisions at root s=8 TeV

Peer reviewe

To flower or not to flower, a temperature-sensitive decision : Characterization of flowering responses at high ambient temperature in Arabidopsis thaliana

To maximize fitness, plants use environmental cues to optimize growth processes. One of the processes under strong environmental regulation is flowering. Multiple environmental factors influence flowering, including temperature. Both a continuously increased ambient temperature as well as temporary increases in temperature affect flowering time. Like most plant species, a majority of Arabidopsis accessions shows accelerated flowering at high ambient temperatures. We identified a floral pathway integrator gene to be involved in floral signal integration at warm temperatures. Furthermore several genes are found to be important for the floral response to both continuous and temporary high ambient temperature in LDs.A huge variation in thermosensory flowering responses, including delay in flowering at warmer temperatures, was observed in natural occurring accessions of Arabidopsis thaliana. A Genome-Wide Association study was followed to identify the genetic variation underlying this phenotypic variation. This led to the identification of several candidate genes. Via genome-wide transcriptome analyses on plants exposed to 24h of increased temperatures we, once more, identified the same floral pathway integrator gene as an important integrator in temperature-mediated flowering. Control of flowering time is of great importance to the plant breeding industry. On the one hand, early flowering of plants might considerably speed up the production process and reduce costs, on the other hand shortening of the growth time can result in yield loss. Average growing season temperatures in the next century will exceed the warmest temperatures from the past century. Detailed knowledge of mechanisms underlying the regulation of flowering time by ambient temperature is essential to be able to breed for crops with improved responses to a warmer environment. In many crops, both seed and vegetable crops, a prolonged vegetative phase at increased ambient temperature is a desired trait. The information found in this study has great potential value to the breeding industry

The Dual-Purpose Hen as a Chance: Avoiding Injurious Pecking in Modern Laying Hen Husbandry

Dual-purpose strains, with hens housed for egg laying and roosters kept for meat production are one alternative to the killing of male day-old chickens. However, dual-purpose hens seem to have additional advantages compared to conventional layers, for instance, a lower tendency to develop behavioral disorders, such as feather pecking and cannibalism. In the present study, three batches of about 1850 conventional layers (Lohmann Brown plus, LB+) and 1850 dual-purpose hens (Lohmann Dual, LD) each, all of them with untrimmed beaks, were observed during production (20–71 (56) weeks of life) in a semi-commercial aviary system. The aim was to investigate whether the hybrid and batch affected the occurrence of injurious pecking, and to identify a detailed time course of the damage caused by this behavior. Therefore, the hens’ plumage and skin condition were assessed as an indicator by means of a visual scoring method. The LB+ hens had higher production performances and higher mortality rates compared to the LD hens. Plumage loss in the LB+ flocks started at 23 to 25 weeks of age, and deteriorated continuously. The LD hens showed only moderate feather loss on the head/neck region, which started at 34 to 41 weeks and remained almost constant until the end of the observations. Compared to feather loss, injuries occurred in the LB+ hens with a delay of several weeks, with a maximum of 8% to 12% of hens affected. In contrast, skin injuries were observed only sporadically in single LD hens. In all batches, hybrid had an effect on the occurrence of feather loss (p < 0.05). Within the LB+ strain, the proportions of hens affected by plumage loss and injuries differed among batches (p < 0.05), whereas this was not the case in the LD flocks. Thus, severe feather pecking and cannibalism seemed to occur in the conventional layer hybrids but not in the dual-purpose hens, though both genetic strains were raised and managed under the same semi-commercial conditions. Therefore, keeping dual-purpose hens should also be considered as an alternative approach to avoid injurious pecking in laying hen husbandry

The dual-purpose hen as a chance: avoiding injurious pecking in modern laying hen husbandry

Dual-purpose strains, with hens housed for egg laying and roosters kept for meat production are one alternative to the killing of male day-old chickens. However, dual-purpose hens seem to have additional advantages compared to conventional layers, for instance, a lower tendency to develop behavioral disorders, such as feather pecking and cannibalism. In the present study, three batches of about 1850 conventional layers (Lohmann Brown plus, LB+) and 1850 dual-purpose hens (Lohmann Dual, LD) each, all of them with untrimmed beaks, were observed during production (20–71 (56) weeks of life) in a semi-commercial aviary system. The aim was to investigate whether the hybrid and batch affected the occurrence of injurious pecking, and to identify a detailed time course of the damage caused by this behavior. Therefore, the hens’ plumage and skin condition were assessed as an indicator by means of a visual scoring method. The LB+ hens had higher production performances and higher mortality rates compared to the LD hens. Plumage loss in the LB+ flocks started at 23 to 25 weeks of age, and deteriorated continuously. The LD hens showed only moderate feather loss on the head/neck region, which started at 34 to 41 weeks and remained almost constant until the end of the observations. Compared to feather loss, injuries occurred in the LB+ hens with a delay of several weeks, with a maximum of 8% to 12% of hens affected. In contrast, skin injuries were observed only sporadically in single LD hens. In all batches, hybrid had an effect on the occurrence of feather loss (p < 0.05). Within the LB+ strain, the proportions of hens affected by plumage loss and injuries differed among batches (p < 0.05), whereas this was not the case in the LD flocks. Thus, severe feather pecking and cannibalism seemed to occur in the conventional layer hybrids but not in the dual-purpose hens, though both genetic strains were raised and managed under the same semi-commercial conditions. Therefore, keeping dual-purpose hens should also be considered as an alternative approach to avoid injurious pecking in laying hen husbandry

The dual-purpose hen as a chance: avoiding injurious pecking in modern laying hen husbandry

Dual-purpose strains, with hens housed for egg laying and roosters kept for meat production are one alternative to the killing of male day-old chickens. However, dual-purpose hens seem to have additional advantages compared to conventional layers, for instance, a lower tendency to develop behavioral disorders, such as feather pecking and cannibalism. In the present study, three batches of about 1850 conventional layers (Lohmann Brown plus, LB+) and 1850 dual-purpose hens (Lohmann Dual, LD) each, all of them with untrimmed beaks, were observed during production (20–71 (56) weeks of life) in a semi-commercial aviary system. The aim was to investigate whether the hybrid and batch affected the occurrence of injurious pecking, and to identify a detailed time course of the damage caused by this behavior. Therefore, the hens’ plumage and skin condition were assessed as an indicator by means of a visual scoring method. The LB+ hens had higher production performances and higher mortality rates compared to the LD hens. Plumage loss in the LB+ flocks started at 23 to 25 weeks of age, and deteriorated continuously. The LD hens showed only moderate feather loss on the head/neck region, which started at 34 to 41 weeks and remained almost constant until the end of the observations. Compared to feather loss, injuries occurred in the LB+ hens with a delay of several weeks, with a maximum of 8% to 12% of hens affected. In contrast, skin injuries were observed only sporadically in single LD hens. In all batches, hybrid had an effect on the occurrence of feather loss (p < 0.05). Within the LB+ strain, the proportions of hens affected by plumage loss and injuries differed among batches (p < 0.05), whereas this was not the case in the LD flocks. Thus, severe feather pecking and cannibalism seemed to occur in the conventional layer hybrids but not in the dual-purpose hens, though both genetic strains were raised and managed under the same semi-commercial conditions. Therefore, keeping dual-purpose hens should also be considered as an alternative approach to avoid injurious pecking in laying hen husbandry