Summary
Flower and fruit colors are important agronomic traits. To date, there is no forward genetic evidence that the glutathione S‐transferase (GST) gene is responsible for the white flower color in peach (Prunus persica). In this study, genetic analysis indicated that the white‐flower trait is monogenetic, is recessive to the non‐white allele, and shows pleiotropic effects with non‐white‐flowered types. The genetic locus underpinning this trait was mapped onto chromosome 3 between 0.421951 and 3.227115 Mb by using bulked segregant analysis in conjunction with whole‐genome sequencing, and was further mapped between 0 and 1.178149 Mb by using the backcross 1 (BC1) population. Finally, the locus was fine‐mapped within 535.974‐ and 552.027‐kb intervals by using 151 F2 individuals and 75 individuals from a BC1 self‐pollinated (BC1S1) population, respectively. Pp3G013600, encoding a GST that is known to transport anthocyanin, was identified within the mapping interval. The analysis of genome sequence data showed Pp3G013600 in white flowers has a 2‐bp insertion or a 5‐bp deletion in the third exon. These variants likely render the GST non‐functional because of early stop codons that reduce the protein length from 215 amino acids to 167 and 175 amino acids, respectively. Genetic markers based on these variants validated a complete correlation between the GST loss‐of‐function alleles and white flower in 128 peach accessions. This correlation was further confirmed by silencing of Pp3G013600 using virus‐induced gene silencing technology, which reduced anthocyanin accumulation in peach fruit. The new knowledge from this study is useful for designing peach breeding programs to generate cultivars with white flower and fruit skin.
Mutations in neuroblastoma amplified sequence (NBAS) cause infantile liver failure syndrome-2 (ILFS2). NBAS is a protein involved in Golgi-to-endoplasmic reticulum retrograde transport. Exon capture in combination with high-throughput sequencing was used to detect NBAS mutations. Via targeted sequencing, two causative mutations were identified from 358 selected genes associated with growth and development diseases; one was a missense mutation, c.3596G>A (p.C1199Y), detected in the coding region of NBAS (NM_015909.3), and the other a splice site mutation, c.209+1G>A. Both of these were heterozygous. The SEC39 structure of the wild-type NBAS protein was compared with a model of the mutated protein. The overall structure of the SEC39 after mutation did not change; however, steric hindrance did increase. In conclusion, two novel NBAS mutations were identified in a 4-year-old Chinese girl with ILFS2.
BackgroundThe relationship between non-fasting remnant cholesterol and cardiovascular outcome in the era of potent statin therapy remained to be elucidated.MethodsA cohort study of three hundred and twenty eight diabetics diagnosed with new-onset stable coronary artery disease (CAD) by coronary angiography were enrolled. All cases were followed up for an average duration of twelve months. The association between baseline remnant cholesterol levels and major cardiovascular outcomes were evaluated using the receivers operating characteristic (ROC) curves and Cox proportional hazards regression analysis.ResultsDuring a period of 12-month’s follow-up, 14.3% patients (47/328) underwent pre-specified adverse outcomes. The remnant cholesterol associated with high sensitivity C-reactive protein, neutrophil count and fibrinogen (R
2 = 0.20, 0.12 and 0.14; P = 0.000, 0.036 and 0.010 respectively). Area under the ROC curves (AUC) indicated discriminatory power of the remnant cholesterol to predict the adverse outcomes for this population (AUC = 0.64, P < 0.005). Kaplan-Meier curve suggested that the lower levels of remnant cholesterol showed relatively lower cardiac events for diabetic patients with stable CAD (Log rank X
2 = 8.94, P = 0.04). However, according to multivariate Cox proportional hazards regression, apart from hemoglobin A1C (Hazard ratio [H.R.] =1.38, 95% CI: 1.14–1.66, P = 0.001) and Gensini scores (H.R. = 1.00, 95% CI: 1.00–1.02; P = 0.035), remnant cholesterol did not qualify as an independent predictor of adverse prognosis in these settings (H.R. = 1.05, 95% CI: 0.46–2.37, P = 0.909).ConclusionsNon-fasting remnant cholesterol was associated with inflammatory biomarkers and high incidence of revascularization, but not qualified as an independent predictor for short-term prognosis of diabetics with new-onset stable coronary artery disease.
Plasma Hcy levels are associated with early recurrence of atrial tachyarrhythmia after catheter ablation in persistent atrial fibrillation patients, thus it should be taken into account in prediction of early recurrence.
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