Myopia is the most common ocular disorder worldwide, and high myopia in particular is one of the leading causes of blindness. Genetic factors play a critical role in the development of myopia, especially high myopia. Recently, the exome sequencing approach has been successfully used for the disease gene identification of Mendelian disorders. Here we show a successful application of exome sequencing to identify a gene for an autosomal dominant disorder, and we have identified a gene potentially responsible for high myopia in a monogenic form. We captured exomes of two affected individuals from a Han Chinese family with high myopia and performed sequencing analysis by a second-generation sequencer with a mean coverage of 30× and sufficient depth to call variants at ∼97% of each targeted exome. The shared genetic variants of these two affected individuals in the family being studied were filtered against the 1000 Genomes Project and the dbSNP131 database. A mutation A672G in zinc finger protein 644 isoform 1 (ZNF644) was identified as being related to the phenotype of this family. After we performed sequencing analysis of the exons in the ZNF644 gene in 300 sporadic cases of high myopia, we identified an additional five mutations (I587V, R680G, C699Y, 3′UTR+12 C>G, and 3′UTR+592 G>A) in 11 different patients. All these mutations were absent in 600 normal controls. The ZNF644 gene was expressed in human retinal and retinal pigment epithelium (RPE). Given that ZNF644 is predicted to be a transcription factor that may regulate genes involved in eye development, mutation may cause the axial elongation of eyeball found in high myopia patients. Our results suggest that ZNF644 might be a causal gene for high myopia in a monogenic form.
Ocular coloboma is a developmental defect of the eye and is due to abnormal or incomplete closure of the optic fissure. This disorder displays genetic and clinical heterogeneity. Using a positional cloning approach, we identified a mutation in the ATP-binding cassette (ABC) transporter ABCB6 in a Chinese family affected by autosomal-dominant coloboma. The Leu811Val mutation was identified in seven affected members of the family and was absent in six unaffected members from three generations. A LOD score of 3.2 at θ = 0 was calculated for the mutation identified in this family. Sequence analysis was performed on the ABCB6 exons from 116 sporadic cases of microphthalmia with coloboma (MAC), isolated coloboma, and aniridia, and an additional mutation (A57T) was identified in three patients with MAC. These two mutations were not present in the ethnically matched control populations. Immunostaining of transiently transfected, Myc-tagged ABCB6 in retinal pigment epithelial (RPE) cells showed that it localized to the endoplasmic reticulum and Golgi apparatus of RPE cells. RT-PCR of ABCB6 mRNA in human cell lines and tissue indicated that ABCB6 is expressed in the retinae and RPE cells. Using zebrafish, we show that abcb6 is expressed in the eye and CNS. Morpholino knockdown of abcb6 in zebrafish produces a phenotype characteristic of coloboma and replicates the clinical phenotype observed in our index cases. The knockdown phenotype can be corrected with coinjection of the wild-type, but not mutant, ABCB6 mRNA, suggesting that the phenotypes observed in zebrafish are due to insufficient abcb6 function. Our results demonstrate that ABCB6 mutations cause ocular coloboma.
High myopia, which is extremely prevalent in the Chinese population, is one of the leading causes of blindness in the world. Genetic factors play a critical role in the development of the condition. To identify the genetic variants associated with high myopia in the Han Chinese, we conducted a genome-wide association study (GWAS) of 493,947 SNPs in 1088 individuals (419 cases and 669 controls) from a Han Chinese cohort and followed up on signals that were associated with p < 1.0 × 10(-4) in three independent cohorts (combined, 2803 cases and 5642 controls). We identified a significant association between high myopia and a variant at 13q12.12 (rs9318086, combined p = 1.91 × 10(-16), heterozygous odds ratio = 1.32, and homozygous odds ratio = 1.64). Furthermore, five additional SNPs (rs9510902, rs3794338, rs1886970, rs7325450, and rs7331047) in the same linkage disequilibrium (LD) block with rs9318086 also proved to be significantly associated with high myopia in the Han Chinese population; p values ranged from 5.46 × 10(-11) to 6.16 × 10(-16). This associated locus contains three genes-MIPEP, C1QTNF9B-AS1, and C1QTNF9B. MIPEP and C1QTNF9B were found to be expressed in the retina and retinal pigment epithelium (RPE) and are more likely than C1QTNF9B-AS1 to be associated with high myopia given the evidence of retinal signaling that controls eye growth. Our results suggest that the variants at 13q12.12 are associated with high myopia.
This review paper describes the livestock production systems in China, their status and trends, driving factors, and major issues with profound impact. Three distinct livestock production systems are discussed; grazing, mixed farming, and industrial systems. The ‘grazing system’ is generally characterised by harsh climate, rangeland, and low livestock output. Market forces, biophysical constraints and environmental concerns are putting a ceiling on the potential for intensification of the grazing system except in some areas where the agro-ecological potential permits. This system needs to be re-oriented towards adding ecosystem service provision, rather than mere production or subsistence. The ‘mixed farming system’, with the highest share of most kinds of livestock commodities, forms the backbone of China’s agriculture and is undertaking a notable intensification and specialisation process. The ‘industrial system’ is geographically concentrated in areas close to densely populated demand centers. Although growing fast, the share of national livestock output remains relatively small. The past two decades have seen a rapid growth in both consumption and production of livestock food products in China. This new food revolution has been driven to a great extent by the rapid growing economy, personal income and urbanisation. Among the most important issues related to livestock production systems in China are severe rangeland degradation, caused mainly by overexploitation of these lands, increasing demand and competition for feed grain, and environmental and public health risks associated with industrialised livestock production. China will have to cope with such challenges through proper policy and technological interventions to sustain the livestock development and simultaneously secure the natural resources and environmental health.
A new air exchange rate (AER) monitoring method using continuous CO 2 sensors was developed and validated through both laboratory experiments and field studies. Controlled laboratory simulation tests were conducted in a 1-m 3 environmental chamber at different AERs (0.1-10.0 hr −1 ). AERs were determined using the decay method based on box model assumptions. Field tests were conducted in classrooms, dormitories, meeting rooms and apartments during 2-5 weekdays using CO 2 sensors coupled with data loggers. Indoor temperature, relative humidity (RH), and CO 2 concentrations were continuously monitored while outdoor parameters combined with on-site climate conditions were recorded. Statistical results indicated that good laboratory performance was achieved: duplicate precision was within 10%, and the measured AERs were 90%-120% of the real AERs. Average AERs were 1.22, 1.37, 1.10, 1.91 and 0.73 hr −1 in dormitories, air-conditioned classrooms, classrooms with an air circulation cooling system, reading rooms, and meeting rooms, respectively. In an elderly particulate matter exposure study, all the homes had AER values ranging from 0.29 to 3.46 hr −1 in fall, and 0.12 to 1.39 hr −1 in winter with a median AER of 1.15.
muscles from 3 goat species were assigned to high and low drip loss groups. Physio-chemical properties, sarcomere length, and proteome profiles were investigated. The high drip loss group had lower pH, higher brightness, and higher shear force values, and shorter sarcomere lengths than the low drip loss group. 22 differential proteins were identified between high and low loss groups. α-Enolase, NADH dehydrogenase, pyruvate dehydrogenase E1, HSP27, superoxide dismutase, peroxiredoxin-2, myosin, and the myosin light chain were among these proteins, which were metabolic enzymes, stress response factors, and structural proteins that affected glycolysis, oxidation, and muscle contraction. Drip loss was probably produced via proteins involved in glycolysis, oxidation, and muscle contraction.
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