A complete and accurate genome sequence provides a fundamental tool for functional genomics and DNA-informed breeding. Here, we assemble a high-quality genome (contig N50 of 6.99 Mb) of the apple anther-derived homozygous line HFTH1, including 22 telomere sequences, using a combination of PacBio single-molecule real-time (SMRT) sequencing, chromosome conformation capture (Hi-C) sequencing, and optical mapping. In comparison to the Golden Delicious reference genome, we identify 18,047 deletions, 12,101 insertions and 14 large inversions. We reveal that these extensive genomic variations are largely attributable to activity of transposable elements. Interestingly, we find that a long terminal repeat (LTR) retrotransposon insertion upstream of MdMYB1 , a core transcriptional activator of anthocyanin biosynthesis, is associated with red-skinned phenotype. This finding provides insights into the molecular mechanisms underlying red fruit coloration, and highlights the utility of this high-quality genome assembly in deciphering agriculturally important trait in apple.

In order to perform their normal physiological functions, it is important that cells maintain the intracellular pH within the physiological range. Intracellular enzyme activity, cytoskeleton component integration, and cellular growth and differentiation rates are all closely associated with the intracellular pH. It has been demonstrated that in nervous system diseases, such as ischemic stroke, traumatic brain injury, epilepsy, Parkinson's disease, and Alzheimer's disease (AD), the common characteristics are decreased pH or acidosis at both tissular and cellular levels. Particularly, some AD-associated enzymes will have altered activities under acidic conditions. We inferred that aging or ischemia may cause intracellular acidification. This acidification not only induces apoptosis but also substantially alters enzyme activities and promotes the development of AD or vascular dementia. The hypothesis of an intracellular pH role in sporadic AD or vascular dementia will be discussed in this paper. If confirmed, this hypothesis may lead to the formulation of new pathogenesis and new therapeutic approaches to AD or vascular dementia.

ABSTRACT.Purpose: To evaluate the biomechanical properties of the cornea using Corneal Visualization Scheimpflug Technology (CorVis ST, Oculus) in eyes with primary open-angle glaucoma (POAG) and normal control eyes. Methods: A comparative cross-sectional study that included 42 patients with POAG and 60 normal control subjects matched for intraocular pressure (IOP) and central corneal thickness (CCT). IOP was measured with a Goldmann applanation tonometer (GAT). Corneal tomography and biomechanical parameters were measured with Pentacam (Oculus) and CorVis ST, respectively. Corneal biomechanical properties were compared between groups, and the associations between corneal biomechanical parameters and ocular characteristics were evaluated. Receiver operating characteristic (ROC) curves were used to establish a cut-off value for the biomechanical parameters. Results: The following parameters of the CorVis ST showed a significant difference between eyes with POAG and normal eyes: first applanation velocity (V in ), second applanation time (A-time 2 ), peak distance (PD) and deformation amplitude (DA). In the univariate analysis, DA was negatively correlated with IOP in both groups. For all biomechanical parameters, the areas under the ROC curve were <0.80 and thus did not reach a good level of predictive accuracy for detecting POAG. Conclusion: CorVis ST offers an alternative method for measuring corneal biomechanical properties. Eyes with POAG exhibit a faster V in , longer A-time 2 , lower DA and longer PD than do IOP-and CCT-matched normal control eyes. The biomechanical parameters of the CorVis ST cannot readily be used for diagnosis of POAG in the individual patient.

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PurposeTo investigate whether differences exist in lens position and other lens parameters among major ethnic groups with cataractous eyes, which may help explain racial differences in angle closure risk.MethodsThis retrospective, cross-sectional study included 807 adult patients who had cataract surgery between years 2014 and 2016 at the University of California, San Francisco (UCSF). Adult patients of white, Asian, Hispanic and African-American ethnicity were included. Lens position (LP), defined as anterior chamber depth (ACD) + 1/2 lens thickness (LT), was assessed using measurements from optical biometry. Other assessed biometric parameters included axial length (AL), relative lens position (RLP) (defined as LP/AL), and anterior chamber depth (ACD).ResultsA total of 807 patients and 1361 eyes were included in this study from a database of patients having cataract surgery. Mean age was 69.2 years (age range from 18 to 101 years old), and 60.3% of patients were women. The mean LP measurements were 5.54±0.32 mm for white, 5.38±0.32 mm for Asian, 5.32±0.30 mm for Hispanic, and 5.40±0.28 mm for African-American participants. After adjusting for age, sex, and AL, significant differences were found when comparing LP in paired comparisons among White cohort with Asians (P<0.001), Hispanics (P<0.001) and African-Americans (P = 0.003). Additionally, when comparing RLP, similar significant results were found when comparing Whites with Asians (P<0.001), Hispanics (P<0.001) and African-Americans (P = 0.002). Lastly, pair-wise comparison of LT between ethnic groups showed significant differences while comparing Asians with Whites (P = 0.001) and Asians with African-Americans (P<0.001).ConclusionThe results of this study suggest that the LP of Hispanic, Asian, and African-American patients are significantly smaller than that of White patients, and among all ethnic groups, Hispanics and after Asians have the smallest LP (P<0.001) and RLP (P<0.001). These findings may have implications for the relative risk of angle closure and the potential IOP response after cataract surgery among different ethnic groups.