Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family

In this study, we have performed autozygosity mapping on a large consanguineous Pakistani family segregating with intellectual disability. We identified two large regions of homozygosity-by-descent (HBD) on 16q12.2–q21 and 16q24.1–q24.3. Whole exome sequencing (WES) was performed on an affected individual from the family, but initially, no obvious mutation was detected. However, three genes within the HBD regions that were not fully captured during the WES were Sanger sequenced and we identified a five base pair deletion (actually six base pairs deleted plus one base pair inserted) in exon 7 of the gene FBXO31. The variant segregated completely in the family, in recessive fashion giving a LOD score of 3.95. This variant leads to a frameshift and a premature stop codon and truncation of the FBXO31 protein, p.(Cys283Asnfs*81). Quantification of mRNA and protein expression suggests that nonsense-mediated mRNA decay also contributes to the loss of FBXO31 protein in affected individuals. FBXO31 functions as a centrosomal E3 ubiquitin ligase, in association with SKP1 and Cullin-1, involved in ubiquitination of proteins targeted for degradation. The FBXO31/SKP1/Cullin1 complex is important for neuronal morphogenesis and axonal identity. FBXO31 also plays a role in dendrite growth and neuronal migration in developing cerebellar cortex. Our finding adds further evidence of the involvement of disruption of the protein ubiquitination pathway in intellectual disability.     

Data on the spider fauna (Arachnida,Aranei) at the White Sea Biological Station,Moscow State University

As a result of preliminary study, the spider fauna at the White Sea Biological Station, Moscow State University, 36 new spider species belonging to 10 families, comprising approximately 20% of the whole species diversity of this locality, have been found.     

Near-magnetic-axis geometry of a closely quasi-isodynamic stellarator

It is shown that the condition of stationary second adiabatic invariant at the magnetic axis of a stellarator configuration can be satisfied to good accuracy for all reflected particles.     

Improvement of collisionless particle confinement in a non-quasi-symmetric stellarator vacuum magnetic field

A non-quasi-symmetric stellarator vacuum magnetic field with an aspect ratio of about 11 is found in which collisionless particles are confined up to about 2/5 of the minor radius.     

Study of Microcirculation and Blood Rheology in Persons with Different Levels of Maximum Oxygen Consumption

Human Physiology - Oxygen delivery to cellular microdistricts is ensured by the coordinated work of systemic hemodynamics, microcirculation, and effective blood flow. However, the contribution of...     

Detection of protein interactions based on GFP fragment complementation by fluorescence microscopy and spectrofluorometry

We have developed a set of simple modifications of the green fluorescent protein (GFP)fragment reassembly assay in bacteria that permits: (i)fluorescent microscopy visualization of GFP reassembly only 1-2 h after induction of protein expression, thus approximating the detection of GFP reassembly to the real-time dynamics of protein complex formation in living cells; (ii) spectrofluorometric detection of reassembled GFP fluorescent signals directly in lysates from cell suspension thereby avoiding, in many cases, the need for tag-affinity isolation of protein complexes; and (iii) comparative quantification of signal intensity in numerous cell-sample lysates using a Bio-Rad IQ5 spectrofluorometric detection system (Bio-Rad Laboratories, Madrid, Spain). Collectively, the results demonstrate that the combination of microscopic and spectrofluorometric detection provides a time-saving and sensitive alternative to existing methods of fluorescence complementation analysis.