A SHOX géndeletio előfordulása idiopathiás alacsonynövésben

INTRODUCTION: The isolated haploinsufficiency of the SHOX gene is one of the most common cause of short stature determined by monogenic mutations. The heterozygous deviation of the gene can be detected in 2-15% of patients with idiopathic short stature (ISS), in 50-90% of patients with Leri-Weill dyschondrosteosis syndrome (LWS), and in almost 100% of patients with Turner syndrome. AIM: The aim of our study was to evaluate the frequency of SHOX gene haploinsufficiency in children with ISS, LWS and in patients having Turner syndrome phenotype (TF), but normal karyotype, and to identify the dysmorphic signs characteristic for SHOX gene deficiency. METHOD: A total of 144 patients were included in the study. Multiplex Ligation-dependent Probe Amplification (MLPA) method was used to identify the SHOX gene haploinsufficiency. The relationships between clinical data (axiological parameters, skeletal disorders, dysmorphic signs) and genotype were analyzed by statistical methods. RESULTS: 11 (7.6%) of the 144 patients showed SHOX gene deficiency with female dominance (8/11, 81% female). The SHOX positive patients had a significantly higher BMI (in 5/11 vs. 20/133 cases, p<0.02) and presented more frequent dysmorphic signs (9/11vs 62/133, p = 0.02). Madelung deformity of the upper limbs was also significantly more frequent among the SHOX positive patients (4/11, i.e. 36%, vs. 14/133, i.e. 10%, p = 0.0066). There were no statistically significant differences between the mean age, mean height and auxological measurements (sitting height/height, arm span/height) between the two groups of patients. CONCLUSIONS: The occurrence of SHOX gene haploinsufficiency observed in our population corresponds to the literature data. In SHOX positive patients, in addition to short stature, the dysmorphic signs have a positive predictive value for SHOX gene alterations. However, the SHOX deletion detected in a patient with idiopathic short stature without dysmorphic signs suggest that SHOX deletion analysis can be recommended in patients with ISS. Orv Hetil. 2017; 158(34): 1351-1356

Preference for novel faces in male infant monkeys predicts cerebrospinal fluid oxytocin concentrations later in life

The ability to recognize individuals is a critical skill acquired early in life for group living species. In primates, individual recognition occurs predominantly through face discrimination. Despite the essential adaptive value of this ability, robust individual differences in conspecific face recognition exist, yet its associated biology remains unknown. Although pharmacological administration of oxytocin has implicated this neuropeptide in face perception and social memory, no prior research has tested the relationship between individual differences in face recognition and endogenous oxytocin concentrations. Here we show in a male rhesus monkey cohort (N = 60) that infant performance in a task used to determine face recognition ability (specifically, the ability of animals to show a preference for a novel face) robustly predicts cerebrospinal fluid, but not blood, oxytocin concentrations up to five years after behavioural assessment. These results argue that central oxytocin biology may be related to individual face perceptual abilities necessary for group living, and that these differences are stable traits

Gene expression clines reveal local adaptation and associated trade-offs at a continental scale

Local adaptation, where fitness in one environment comes at a cost in another, should lead to spatial variation in trade-offs between life history traits and may be critical for population persistence. Recent studies have sought genomic signals of local adaptation, but often have been limited to laboratory populations representing two environmentally different locations of a species' distribution. We measured gene expression, as a proxy for fitness, in males of Drosophila subobscura, occupying a 20° latitudinal and 11 °C thermal range. Uniquely, we sampled six populations and studied both common garden and semi-natural responses to identify signals of local adaptation. We found contrasting patterns of investment: transcripts with expression positively correlated to latitude were enriched for metabolic processes, expressed across all tissues whereas negatively correlated transcripts were enriched for reproductive processes, expressed primarily in testes. When using only the end populations, to compare our results to previous studies, we found that locally adaptive patterns were obscured. While phenotypic trade-offs between metabolic and reproductive functions across widespread species are well-known, our results identify underlying genetic and tissue responses at a continental scale that may be responsible for this. This may contribute to understanding population persistence under environmental change

Occupancy maps of 208 chromatin-associated proteins in one human cell type

Transcription factors are DNA-binding proteins that have key roles in gene regulation. Genome-wide occupancy maps of transcriptional regulators are important for understanding gene regulation and its effects on diverse biological processes. However, only a minority of the more than 1,600 transcription factors encoded in the human genome has been assayed. Here we present, as part of the ENCODE (Encyclopedia of DNA Elements) project, data and analyses from chromatin immunoprecipitation followed by high-throughput sequencing (ChIP–seq) experiments using the human HepG2 cell line for 208 chromatin-associated proteins (CAPs). These comprise 171 transcription factors and 37 transcriptional cofactors and chromatin regulator proteins, and represent nearly one-quarter of CAPs expressed in HepG2 cells. The binding profiles of these CAPs form major groups associated predominantly with promoters or enhancers, or with both. We confirm and expand the current catalogue of DNA sequence motifs for transcription factors, and describe motifs that correspond to other transcription factors that are co-enriched with the primary ChIP target. For example, FOX family motifs are enriched in ChIP–seq peaks of 37 other CAPs. We show that motif content and occupancy patterns can distinguish between promoters and enhancers. This catalogue reveals high-occupancy target regions at which many CAPs associate, although each contains motifs for only a minority of the numerous associated transcription factors. These analyses provide a more complete overview of the gene regulatory networks that define this cell type, and demonstrate the usefulness of the large-scale production efforts of the ENCODE Consortium

Autumn roost site selection by the Common Crane Grus grus in the Hortobágy National Park, Hungary, between 1995–2000

One of the largest migration routes of the Common Crane Grus grus leads across the Hortobágy National Park in Hungary, where more than 60 thousand cranes - a considerable part of the European (mostly Finnish) breeding population - stage for more than two months. The aim of this study was to investigate factors that may attract the Common Crane to roost sites in the Hortobágy and the surrounding non-protected areas of Eastern Hungary during the autumn migrations from 1995 to 2000. We found that two types of wetlands were used by cranes for roosting: drained fishponds with shallow water, and shallow marshes with open stretches of water. Most cranes were observed between mid October and early November (31 600-64 000 birds). The cranes selected 23.8% of all possible roost sites. Although 84% of marshlands were selected, and only 2.9% of fishponds drained at least once during the investigation were chosen for roosting, 74.5-79.4% of the total population roosted in a single drained fishpond. The peak number of roosting cranes correlated positively with the size of roost site, its distance from human settlements and roads. The effect of the distance between feeding and roosting sites was significant (negatively) only when differentiating between roost sites used only for one year and roost sites used for several years. Although the Common Crane preferred drained fishponds to marshes over the whole area, marshes and drained fishponds were equally selected in protected areas. We suggest that all important roost sites should be protected, wildfowl hunting should not be permitted and fishing activities should be reduced in wetlands suitable for roosting during migration

The radio structure of the peculiar narrow-line Seyfert 1 galaxy candidate J1100+4421

10.1093/mnras/stx2449Narrow-line Seyfert 1 galaxies (NLS1) are an intriguing subclass of active galactic nuclei. Their observed properties indicate low central black hole mass and high accretion rate. The extremely radio-loud NLS1 sources often show relativistic beaming and are usually regarded as younger counterparts of blazars. Recently, the object SDSS J110006.07+442144.3 was reported as a candidate NLS1 source. The characteristics of its dramatic optical flare indicated its jet-related origin. The spectral energy distribution of the object was similar to that of the γ-ray detected radio-loud NLS1, PMN J0948+0022. Our high-resolution European very long baseline interferometry network observations at 1.7 and 5 GHz revealed a compact core feature with a brightness temperature of ≳1010 K. Using the lowest brightness temperature value and assuming a moderate Lorentz factor of ∼9, the jet viewing angle is ≲26°. Archival Very Large Array data show a large-scale radio structure with a projected linear size of ∼150 kpc reminiscent of double-sided morphology.Peer reviewe