A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9

Otosclerosis is a common disorder of the otic capsule resulting in hearing impairment in 0.3–0.4% of the Caucasian population. The aetiology of the disease remains unclear. In most cases, otosclerosis can be considered as a complex disease. In some cases, the disease is inherited as an autosomal dominant trait, sometimes with reduced penetrance. To date, seven autosomal dominant loci have been reported, but none of the disease-causing genes has been identified. In this study, we present the results of a genome-wide linkage analysis in a large Tunisian family segregating autosomal dominant otosclerosis. Linkage analysis localised the responsible gene to chromosome 9p13.1-9q21.11 with a maximal LOD score of 4.13, and this locus was named OTSC8. Using newly generated short tandem repeat polymorphism markers, we mapped this new otosclerosis locus to a 34.16 Mb interval between the markers D9S970 and D9S1799. This region comprises the pericentromeric region on both arms of chromosome 9, a highly complex region containing many duplicated sequences. Electronic supplementary material  The online version of this article (doi:) contains supplementary material, which is available to authorized users.     

Exclusion of five subunits of cGMP phosphodiesterase in Leber’s congenital amaurosis

Leber’s congenital amaurosis (LCA) is the earliest and most severe of all inherited retinal dystrophies. Recently, we mapped an LCA gene to chromosome 17p13.1 (LCA1) and ascribed the disease to mutations of the retinal guanylate cyclase (ret GC) gene in a subset of families of North African ancestry. Owing to the genetic heterogeneity of LCA and considering that LCA1 results from an impaired production of cGMP in the retina (with permanent closure of cGMP-gated cation channels), we hypothesized that the activation of the cGMP phosphodiesterase (PDE) could trigger the disease by lowering the intracellular cGMP level in the retina. The rod and cone cGMP-PDE inhibitory subunits were regarded therefore as candidate genes in LCA. Here, we report the exclusion of five rod and cone cGMP-PDE subunits in LCA families unlinked to chromosome 17p13. Received: 7 April 1997 / Accepted: 3 November 1997     

Cross-transferability and Polymorphic Potential of Genomic STMS Markers of Brassica Species

The present study was carried out with the objective of evaluating genomic STMS markers developed earlier in Brassica napus, B. oleracea, B. rapa and B. nigra for their use in Brassica juncea and B. carinata. Ninety-six of the 100 STMS markers used under standardized annealing temperatures and gel concentrations produced clear reproducible amplification pattern. For majority of the markers 60 °C annealing temperature and 3.5% metaphor agarose gel were found suitable. High cross-transferability of STMS markers to related Brassica species including B. carinata (91.6%) and B. juncea (87.5%) suggested the possibility of utilizing these markers for genome analysis in the species where no such markers are available. The ‘B’ genome derived markers showed lower level of transferability to the ‘A’ and ‘C’ genome Brassica species. The potential of STMS markers to detect polymorphism among Brassica species and genera was 98.9%. The level of inter-specific polymorphism was much higher than the intea-specific polymorphism. The markers capable of revealing polymorphism among Brassica species and genera would be useful in Brassica introgression breeding programme. The polymorphic markers were found efficient in establishing the expected evolutionary relationships among the six different Brassica species and two related genera. Low level of intra-specific polymorphism revealed by these markers suggested use of a large set of such markers for various applications in Brassica genetics, genomics and breeding.     

Behavior of Enzyme Activities Exposed to Contamination by Heavy Metals and Dissolved Organic Carbon in Calcareous Agricultural Soils

To investigate the relevance of biochemical parameters in biogeochemical mechanisms of the soil, it is important to gather data related to different soil types under different pedogeoclimatic conditions. In this study, we investigated on the calcareous agricultural soils in the Saiss plain (North Morocco). Four agricultural soils exposed to multi-metal (Cr, Cu, Zn, and Ni) and organic matter (OM) contamination as a result of irrigation with Oued Fez and Oued Sebou waters that are affected by urban and industrial activities around the city of Fez were studied and compared to a reference site irrigated with uncontaminated water. The study concerned soil physicochemical properties and the activity of a range of enzymes [phosphatase (PHOS), arylsulfatase (SULF), urease (UREA), arylamidase (AMID), β-galactosidase (GALA), glucosidase (GLUC), and laccase (LACA)] related to nutrients cycles. Pearson's correlations between these parameters showed that soil enzymatic activities (PHOS, SULF, UREA, GALA, GLUC, and LACA) were correlated positively with heavy metals (Cu, Zn, and Cr) concentrations in the soil and also with dissolved organic carbon (DOC), and negatively with the aromaticity (AROM) of these compounds. Interestingly, analysis of intra-site correlations showed strong relationships among enzyme activities in the reference soil, while in contaminated soils, these activities were largely unrelated to each other. It was concluded that soil irrigation with heavy-metal- and OM-contaminated watercourses over decades has resulted in soils with high enzymatic activities function and nutrient turnover but altered relationships among geochemical cycles.     

Functional expression of the PorAH channel from Corynebacterium glutamicum in cell-free expression systems: implications for the role of the naturally occurring mycolic acid modification

PorA and PorH are two small membrane proteins from the outer membrane of Corynebacterium glutamicum, which have been shown to form heteromeric ion channels and to be post-translationally modified by mycolic acids. Any structural details of the channel could not be analyzed so far due to tremendous difficulties in the production of sufficient amounts of protein samples. Cell-free (CF) expression is a new and remarkably successful strategy for the production of membrane proteins for which toxicity, membrane targeting, and degradation are key issues. In addition, reaction conditions can easily be modified to modulate the quality of synthesized protein samples. We developed an efficient CF expression strategy to produce the channel subunits devoid of post-translational modifications. (15)N-labeled PorA and PorH samples were furthermore characterized by NMR and gave well resolved spectra, opening the way for structural studies. The comparison of ion channel activities of CF-expressed proteins with channels isolated from C. glutamicum gave clear insights on the influence of the mycolic acid modification of the two subunits on their functional properties.     

The Effect of Different Levels of Organic and Inorganic Chromium Supplementation on Production Performance, Carcass Traits and Some Blood Parameters of Broiler Chicken Under Heat Stress Condition

A total of 250 broilers in a completely randomized design selected to evaluate the effect of different levels of chromium (Cr) supplementation on performance, carcass traits and some blood parameters of heat-stressed broiler chicks. All birds were kept under heat stress temperature (33?±?3°C) and divided into five treatments groups. Each treatment consisted of five pens with 10 birds in each pen. The basal diets were supplemented with 0?ppb (control), 800?ppb Cr-L-Met (T(1)), 1,200?ppb Cr-L-Met (T(2)) or 800?ppb CrCl(3) (T(3)), and 1,200?ppb CrCl(3) (T(4)). The feed intake and body mass were measured at 10, 21, and 42?days of age. Blood samples were collected from two birds in each replicates to determine biological and hematological values at 28 and 42?days of age. There were no significant difference in mass gain and feed conversion of broilers that received Cr supplementations compared with controls. The serum glucose concentration decreased in broilers received organic chromium methionine supplements compared with other treatments groups. Slight but not significant increases were observed in serum high-density lipoprotein (HDL) concentration of treated groups than controls while the mean serum HDL concentration was significantly higher in T(2) group compared with control group. Serum low-density lipoprotein level decreased in broiler received organic Cr supplements (p?相似文献   

Age‐specific reference intervals for routine biochemical parameters in healthy neonates,infants, and young children in Iran

Age and sex need to be considered in the establishment of reference intervals (RIs), especially in early life when there are dynamic physiological changes. Since data for important biomarkers in healthy neonates and infants are limited, particularly in Iranian populations, we have determined age‐specific RIs for 7 laboratory biochemical parameters. This cross‐sectional study comprised a total of 344 paediatric participants (males: 158, females: 186) between the ages of 3 days and 30 months (mean age: 12.91 ± 7.15 months). Serum levels of creatinine, urea, uric acid, calcium, phosphate, vitamin D and high‐sensitivity C‐reactive protein (hs‐CRP) were measured using an Alpha classic‐AT plus auto‐analyser. We determined age‐specific RIs using CLSI Ep28‐A3 and C28‐A3 guidelines. No sex partitioning was required for any of the biomarkers. Age partitioning was required for kidney function tests and phosphate. The serum concentration of urea and creatinine increased with age, while phosphate and uric acid decreased with age. Age partitioning was not required for serum calcium, vitamin D, and hs‐CRP, which remained relatively constant throughout the age range. Age‐specific RIs for 7 routine biochemical markers were determined to address critical gaps in RIs in early life to help improve clinical interpretation of blood test results in young children, including neonates. Established age partitions demonstrate the biochemical changes that take place during child growth and development. These novel data will ultimately better disease management in the Iranian paediatric population and can be of value to clinical and hospital laboratories with similar populations.