Evaluation of genetic risk of apparently balanced chromosomal rearrangement carriers by breakpoint characterization.

PURPOSE: To report genetic characteristics and associated risk of chromosomal breaks due to chromosomal rearrangements in large samples. METHODS: MicroSeq, a technique that combines chromosome microdissection and next-generation sequencing, was used to identify chromosomal breakpoints. Long-range PCR and Sanger sequencing were used to precisely characterize 100 breakpoints in 50 ABCR carriers. RESULTS: In addition to the recurrent regions of balanced rearrangement breaks in 8q24.13, 11q11.23, and 22q11.21 that had been documented, we have discovered a 10-Mb region of 12q24.13-q24.3 that could potentially be a sparse region of balanced rearrangement breaks. We found that 898 breakpoints caused gene disruption and a total of 188 breakpoints interrupted genes recorded in OMIM. The percentage of breakpoints that disrupted autosomal dominant genes recorded in OMIM was 25.53% (48/188). Fifty-four of the precisely characterized breakpoints had 1-8-bp microhomologous sequences. CONCLUSION: Our findings provide a reference for the evaluation of the pathogenicity of mutations in related genes that cause protein truncation in clinical practice. According to the characteristics of breakpoints, non-homologous end joining and microhomology-mediated break-induced replication may be the main mechanism for ABCRs formation.

Changes in sensory characteristics, chemical composition and microbial succession during fermentation of ancient plants Pu-erh tea.

"Ancient tea plants" are defined as tea trees > 100 years old, or with a trunk diameter > 25 cm; their leaves are manufactured to high - quality, valuable ancient plants pu-erh tea (APPT). In this study, a fermentation of APPT were developed, and outstanding sweetness of APPT infusion was observed. During fermentation, the content of soluble sugars, theabrownins (p < 0.05), as well as 41 metabolites were increased [Variable importance in projection (VIP) > 1.0; p < 0.05 and Fold-change (FC) FC > 2]; While relative levels of 72 metabolites were decreased (VIP > 1.0, p < 0.05 and FC < 0.5. Staphylococcus, Achromobacter, Sphingomonas, Thermomyces, Rasamsonia, Blastobotrys, Aspergillus and Cladosporium were identified as dominant genera, and their relative levels were correlated with contents of characteristic components (p < 0.05). Together, changes in sensory characteristics, chemical composition and microbial succession during APPT fermentation were investigated, and advanced the formation mechanism of its unique quality.

The dynamics of microbial community and flavor metabolites during the acetic acid fermentation of Hongqu aromatic vinegar.

In this study, we investigated the dynamics of microbial community and flavor metabolites during the traditional fermentation of Hongqu aromatic vinegar (HAV) and subsequently explored the potential relationship between microbiota and flavor metabolites. The microbiome analysis based on high-throughput sequencing (HTS) of amplicons demonstrated that Lactobacillus, Acetobacter and Clostridium were the dominant bacterial genera, while Alternaria, Candida, Aspergillus and Issatchenkia were the dominant fungal genera during the acetic acid fermentation (AAF) of HAV. A total of 101 volatile flavor compounds were identified through gas chromatography-mass spectrometry (GC-MS) during HAV fermentation, including esters (35), alcohols (17), aldehydes (11), acids (11), ketones (7), phenols (10), and others (10). Redundancy analysis (RDA) was used to reveal the correlation between microbiota and volatile flavor compounds. Lactobacillus and Acetobacter were the two bacterial genera that have the great influence on the production of volatile flavor components in HAV. Among them, Lactobacillus was positively correlated with a variety of ethyl esters, while Acetobacter positively contributed to the formation of several organic acids. Furthermore, the non-volatile metabolites were detected by ultra-high-performance liquid chromatography with quadrupole time-of-flight mass spectrometry (UPLC-QTOF/MS). A total of 41 dipeptides were identified during HAV fermentation, and most of them may have sensory characteristics and biological activities. RDA showed that Aspergillus, Epicoccum, Issatchenkia, Candida and Malassezia were the most influential fungal genera on non-volatile metabolites. In particular, Epicoccum was first reported in Hongqu vinegar and showed a positive correlation with the production of various organic acids. In conclusion, this study provides a scientific basis for understanding the flavor generation mechanism of HAV, and may be valuable for developing effective techniques to select suitable strains to improve the flavor quality of HAV.

Unpruning improvement the quality of tea through increasing the levels of amino acids and reducing contents of flavonoids and caffeine.

Tea tree [Camellia sinensis var. sinensis or assamica (L.) O. Kuntze], an important crop worldwide, is usually pruned to heights of 70 to 80 cm, forming pruned tea tree (PTT) plantations. Currently, PTTs are transformed into unpruned tea tree (UPTT) plantations in Yunnan, China. This has improved the quality of tea products, but the underlying reasons have not been evaluated scientifically. Here, 12 samples of sun-dried green teas were manufactured using fresh leaves from an UPTT and the corresponding PTT. Using sensory evaluation, it was found that the change reduced the bitterness and astringency, while increasing sweetness and umami. Using high performance liquid chromatography detection showed that the contents of free amino acids (theanine, histidine, isoleucine and phenylalanine) and catechin gallate increased significantly (P < 0.05), whereas the content of alanine decreased significantly (P < 0.05). A liquid chromatography-mass spectrometry-based metabolomics analysis showed that the transformation to UPTT significantly decreased the relative levels of the majority of flavonols and tannins (P < 0.05), as well as γ-aminobutyric acid, caffeine and catechin (epigallocatechin, catechin, epigallocatechin gallate, gallocatechin gallate), while it significantly increased the relative contents of catechins (gallocatechin, epicatechin, epicatechin gallate and catechin gallate), phenolic acids and some amino acids (serine, oxidized glutathione, histidine, aspartic acid, glutamine, lysine, tryptophan, tyramine, pipecolic acid, and theanine) (P < 0.05). In summary, after transforming to UPTT, levels of amino acids, such as theanine increased significantly (P < 0.05), which enhanced the umami and sweetness of tea infusions, while the flavonoids (such as kaempferol, myricetin and glycosylated quercetin), and caffeine contents decreased significantly (P < 0.05), resulting in a reduction in the bitterness and astringency of tea infusions and an increase in tea quality.

[Pollution Characteristics and Risk Assessment of Antibiotics in Lianhua Reservoir].

Thirteen typical antibiotics in surface water of the Lianhua Reservoir were analyzed using HPLC/MS/MS to assess the pollution characteristics and risk levels. Ten antibiotics except for erythromycin, sulfadiazine, and sulfamethoxazole were detected in surface water and the total concentration of antibiotics varied between non-detectable (n.d.) and 925.26 ng ·L-1. Azithromycin had the highest concentration (n.d.-232.61 ng ·L-1) with the detection frequency of 75%, followed by enrofloxacin (n.d.-187.69 ng ·L-1), tetracycline (n.d.-155.05 ng ·L-1), and ciprofloxacin (n.d.-83.66 ng ·L-1) with the detection frequencies over 60%. The spatial distribution of antibiotics was as follows: total concentration of upstream (sampling point 1) > Aoxi River stream tributary (sampling point 2) > reservoir downstream (sampling point 3) > reservoir entrance (sampling point 4) > reservoir area (sampling point 5). The seasonal variations in the concentrations of antibiotics were evident; total concentrations in the dry season were significantly higher than those in the wet and normal seasons. The results of the environmental risk assessment indicated that ofloxacin, enrofloxacin, and ciprofloxacin pose significant risks to the environment. In the Lianhua Reservoir, ciprofloxacin showed high potential risk to the ecological environment, while the environmental risks of other antibiotics in the reservoir were below the medium level. The combined risk value of the antibiotics in the dry season was higher than that in the wet and normal seasons.