When Dynamic Diselenide Bonds Meet Dynamic Imine Bonds in Polymeric Materials.

In both natural and artificial functional systems, the cooperation between different dynamic interactions is of vital importance for realizing complicated functions. Dynamic covalent bonds are one kind of relatively stable dynamic interactions and have shown synergistic effect in natural systems such as functional proteins. However, synergistic interactions between different dynamic covalent bonds in polymeric materials are still unclear. Herein, polymeric materials containing diselenide and imine bonds are prepared, and then the synergistic effect between the two dynamic covalent bonds is quantitatively evaluated in typical processes of dynamic materials. The results reveal that dynamic covalent bonds show weak synergistic effect in the degradation process and have strong synergistic effect in stress relaxation process. Therefore, introducing multiple dynamic covalent bonds in polymeric materials can extensively enhance their dynamic properties.

Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.

BACKGROUND: Joubert syndrome (JS, OMIM: 213300) is a recessive developmental disorder characterized by cerebellar vermis hypoplasia and a distinctive mid-hindbrain malformation called the "molar tooth sign" on axial magnetic resonance imaging. To date, more than 35 ciliary genes have been identified as the causative genes of JS. METHODS: Whole exome sequencing was performed to detect the causative gene mutations in a Chinese patient with JS followed by Sanger sequencing. RT-PCR and Sanger sequencing were used to confirm the abnormal transcript of centrosomal protein 104 (CEP104, OMIM: 616690). RESULTS: We identified two novel heterozygous mutations of CEP104 in the proband, which were c.2364+1G>A and c.414delC (p.Asn138Lysfs*11) (GenBank: NM_014704.3) and consistent with the autosomal recessive inheritance mode. CONCLUSION: Our study reported the fourth case of JS patients with CEP104 mutations, which expands the mutation spectrum of CEP104 and elucidates the clinical heterogeneity of JS.

Chlamydomonas (Chlorophyceae) colony PCR.

The ease and effectiveness of colony polymerase chain reaction (PCR) has allowed rapid amplification of DNA fragments and screening of large number of colonies of interest including transformants and mutants with genetic manipulations. Here, we evaluated colony PCR in Chlamydomonas. Individual colonies were treated with 10 mM ethylenediaminetetraacetic acid (EDTA) or Chelex-100 and the resulting clear cell lysate was used for PCR reaction. Either genomic DNA or plasmid DNA incorporated into the genome was equally amplified. We found that the Chelex method is superior to EDTA method in certain cases. This colony PCR technique will bypass the tedious process of isolating genomic DNA for PCR reaction and will make it possible for rapid amplification of genomic DNA fragments as well as rapid large-scale screening of transformants.