Dysregulated CRMP Mediates Circadian Deficits in a Drosophila Model of Fragile X Syndrome / 神经科学通报·英文版

Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability, resulting from the lack of functional fragile X mental retardation protein (FMRP), an mRNA binding protein mainly serving as a translational regulator. Loss of FMRP leads to dysregulation of target mRNAs. The Drosophila model of FXS show an abnormal circadian rhythm with disruption of the output pathway downstream of the clock network. Yet the FMRP targets involved in circadian regulation have not been identified. Here, we identified collapsing response mediator protein (CRMP) mRNA as a target of FMRP. Knockdown of pan-neuronal CRMP expression ameliorated the circadian defects and abnormal axonal structures of clock neurons (ventral lateral neurons) in dfmr1 mutant flies. Furthermore, specific reduction of CRMP in the downstream output insulin-producing cells attenuated the aberrant circadian behaviors. Molecular analyses revealed that FMRP binds with CRMP mRNA and negatively regulates its translation. Our results indicate that CRMP is an FMRP target and establish an essential role for CRMP in the circadian output in FXS Drosophila.

Prenatal diagnosis for 30 women carrying a FMR1 mutation / 中华医学遗传学杂志

Objective@#To determine the CGG repeat number and methylation status of FMR1 gene for fetuses whose mothers have carried a FMR1 mutation.@*Methods@#For 30 pregnant women, the fetal CGG repeat number was determined with a GC-rich PCR system by using chorionic villus, amniotic fluid or umbilical blood samples. The methylation status of the FMR1 gene was confirmed with Southern blotting.@*Results@#In total 30 prenatal diagnoses were performed for 29 carriers of FMR1 gene mutations and 1 with FMR1 gene deletion mosaicism. Three fetuses were found to carry premutations, 9 were with full mutations and 1 with mosaicism of premutation and full mutations. Eighteen fetuses were normal.@*Conclusion@#Considering the genetic complexity of Fragile X syndrome (FXS), single method may not suffice accurate determination of their genetic status. The pitfalls and technical limitations of protocols requires adoption of personalized strategy for its prenatal diagnosis.

Prenatal diagnosis for 30 women carrying a FMR1 mutation / 中华医学遗传学杂志

OBJECTIVE@#To determine the CGG repeat number and methylation status of FMR1 gene for fetuses whose mothers have carried a FMR1 mutation.@*METHODS@#For 30 pregnant women, the fetal CGG repeat number was determined with a GC-rich PCR system by using chorionic villus, amniotic fluid or umbilical blood samples. The methylation status of the FMR1 gene was confirmed with Southern blotting.@*RESULTS@#In total 30 prenatal diagnoses were performed for 29 carriers of FMR1 gene mutations and 1 with FMR1 gene deletion mosaicism. Three fetuses were found to carry premutations, 9 were with full mutations and 1 with mosaicism of premutation and full mutations. Eighteen fetuses were normal.@*CONCLUSION@#Considering the genetic complexity of Fragile X syndrome (FXS), single method may not suffice accurate determination of their genetic status. The pitfalls and technical limitations of protocols requires adoption of personalized strategy for its prenatal diagnosis.

Genetic screening and prenatal diagnosis for high risk families of Fragile X syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the value of genetic testing for Fragile X syndrome (FXS).</p><p><b>METHODS</b>A domestically made diagnostic kit based Tri-primer-PCR method was used to detect mutations of the FMR1 gene among 6 pedigrees with unexplained intellectual disability. The results were verified by methylation PCR and Southern blotting.</p><p><b>RESULTS</b>Pedigrees 1 and 6 were positive for the screening. In pedigree 1, a full-mutation allele with methylation was identified in the proband and his mother, which was passed on to the fetus. In pedigree 6, the proband was mosaic for a full-mutation allele and a pre-mutation allele. His sister was asymptomatic with a full-mutation. His mother carried pre-mutation allele, while his father and sister's baby were normal. The number of CGG repeats of the pedigrees 2 to 5 were in the normal range.</p><p><b>CONCLUSION</b>Genetic testing can provide an effective way to prevent FXS caused by FMR1 mutations and enable prenatal diagnosis for families with a high risk for the disease.</p>

The induction, purification, whole genome sequencing and comparative genome analysis of a novel staphylococcus haemolyticus bacteriophage IME-SA4 / 中国医师杂志

Objective To induce a novel temperate bacteriophage from staphylococcus haemolyticus strain SA98,observe the morphology and size,complete the whole genome sequencing,analyse the structure of genome and evolutionary relationship.Methods The mitomycin C was used to induce the temperate phage from staphylococcushaemolyticus strain SA98,the induced phage was observed by transmission electron microscopy after be concentrated and purified.The genome DNA was extracted and high through sequenced.The feature of whole genome and evolutionary relationship was analyzed.Results A temperate phage IME-SA4 was successfully induced from staphylococcus haemolyticus strain SA98.Transmission electron microscopy analysis indicated that IME-SA4 had an isometric head and a non-contractile long tail.The whole genome of IME-SA4 was long as 41 843 bp,and the whole genome blast result indicated IME-SA4 shared only 13％ homology with most related strain phiRS7.Conclusions A novel staphylococcus haemolyticus temperate phage with low homology with other staphylococcusphages was successfully induced from staphylococcus haemolyticus strain SA98.The research of its morphology,whole genome sequencing and comparative genome analysis make the foundation for further study of staphylococcus phages' properties and practical application.

Determination of three oligosaccharide esters in Polygalae Radix and its three processed products by HPLC / 中成药

AIM To determine the contents of arillanin A,tenuifoliside A and tenuifoliside C in raw Polygalae Radix (root barks),Polygalae Radix duramen,Glycyrrhizae Radix et Rhizoma-processed Polygalae Radix,waterboiling Polygalae Radix and honey-processed Polygalae Radix.METHODS The analyses of 50％ methanol extracts from samples were performed on a 30 ℃ thermostatic Kromasil C18 column (250 mm ×4.6 mm,5 μm),with the mobile phase comprising of acetonitrile-0.1％ formic acid flowing at 1.0 mL/min in a gradient elution manner,and the detection wavelength was set at 330 nm.RESULTS The contents of three oligosaccharide esters were the highest in raw Polygalae Radix,followed by those in honey-processed Polygalae Radix,and those in water-boiling Polygalae Radix were the lowest.These constituents also existed in Polygalae Radix duramen,but their contents were lower than those in root barks.CONCLUSION The ester bonds of oligosaccharide esters in Polygalae Radix may be hydrolyzed during processing,followed by the generation of small molecular organic acids.The medication of whole Polygalae Radix (root barks and duramen) can be taken into consideration in clinical practice to reduce toxicity and enhance efficacy.