长沙市科技人才需求预测与高等教育发展战略研究

本文在分析长沙市科技人才及高等教育发展现状的基础上,结合未来长沙市科技人才需求的预测,提出了长沙市高等教育发展的战略目标及其具体途径.     

长江上游卫星反演与再分析降水数据的适用性评估

为评估不同降水数据在长江上游的适用性,基于气象站点观测数据,采用多种评价指标,定量评估了卫星反演降水数据(IMERG-Final、GSMaP-Gauge)及再分析降水数据(ERA5-Land)在长江上游的应用精度,并分析了各降水数据在不同等级降水的误差结构。结果表明:3套降水数据均能准确捕捉流域降水东高西低的空间格局,与观测降水有着良好的相关性,且2015—2019年表现平稳,有可长期应用的潜力;各降水数据时间分辨率越高,误差相对越大,在流域地形变化剧烈的中部误差更大;对弱降水易错报高估,对强降水的低估随降水强度上升而加剧;两套卫星反演降水数据总体误差较小,适用性良好,IMERG-Final有更好的误差控制能力,GSMaP-Gauge对降水发生的识别更为准确;ERA5-Land明显高估流域降水,尤其在西南部地区。     

Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis

We identified a SNP in the DPP6 gene that is consistently strongly associated with susceptibility to amyotrophic lateral sclerosis (ALS) in different populations of European ancestry, with an overall P value of 5.04 x 10(-8) in 1,767 cases and 1,916 healthy controls and with an odds ratio of 1.30 (95% confidence interval (CI) of 1.18-1.43). Our finding is the first report of a genome-wide significant association with sporadic ALS and may be a target for future functional studies.     

Dominant missense mutations in ABCC9 cause Cantú syndrome

Cantú syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the 16 individuals with Cantú syndrome examined. The ABCC9 protein is part of an ATP-dependent potassium (K(ATP)) channel that couples the metabolic state of a cell with its electrical activity. All mutations altered amino acids in or close to the transmembrane domains of ABCC9. Using electrophysiological measurements, we show that mutations in ABCC9 reduce the ATP-mediated potassium channel inhibition, resulting in channel opening. Moreover, similarities between the phenotype of individuals with Cantú syndrome and side effects from the K(ATP) channel agonist minoxidil indicate that the mutations in ABCC9 result in channel opening. Given the availability of ABCC9 antagonists, our findings may have direct implications for the treatment of individuals with Cantú syndrome.     

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

Cilia are essential for fertilization, respiratory clearance, cerebrospinal fluid circulation and establishing laterality. Cilia motility defects cause primary ciliary dyskinesia (PCD, MIM244400), a disorder affecting 1:15,000-30,000 births. Cilia motility requires the assembly of multisubunit dynein arms that drive ciliary bending. Despite progress in understanding the genetic basis of PCD, mutations remain to be identified for several PCD-linked loci. Here we show that the zebrafish cilia paralysis mutant schmalhans (smh(tn222)) encodes the coiled-coil domain containing 103 protein (Ccdc103), a foxj1a-regulated gene product. Screening 146 unrelated PCD families identified individuals in six families with reduced outer dynein arms who carried mutations in CCDC103. Dynein arm assembly in smh mutant zebrafish was rescued by wild-type but not mutant human CCDC103. Chlamydomonas Ccdc103/Pr46b functions as a tightly bound, axoneme-associated protein. These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated.