Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

An isolated defect of respiratory chain complex I activity is a frequent biochemical abnormality in mitochondrial disorders. Despite intensive investigation in recent years, in most instances, the molecular basis underpinning complex I defects remains unknown. We report whole-exome sequencing of a single individual with severe, isolated complex I deficiency. This analysis, followed by filtering with a prioritization of mitochondrial proteins, led us to identify compound heterozygous mutations in ACAD9, which encodes a poorly understood member of the mitochondrial acyl-CoA dehydrogenase protein family. We demonstrated the pathogenic role of the ACAD9 variants by the correction of the complex I defect on expression of the wildtype ACAD9 protein in fibroblasts derived from affected individuals. ACAD9 screening of 120 additional complex I-defective index cases led us to identify two additional unrelated cases and a total of five pathogenic ACAD9 alleles.     

地面光伏阵列的风洞测试探析

本文介绍了地面光伏陈列的风洞测试方法,包括试验用比例模型的制作、参数的选用、测试结果分析和相关的设计计算。传统的地面光伏阵列系统的设计依据的是单一部件或独立结构的理论分析计算,而通过风洞测试可以获得实际的测试数据支持。风洞测试的首要目标是获得风栽荷作用于光伏阵列各个组成的效果。     

不同亚属果蝇的热刺激基因5′-区域的顺序同源

对果蝇Virilis 所编码70,000道尔顿的热刺激蛋白的基因进行了克隆;测定了其5′—区域顺序。对两种不同亚属果蝇(Melanogaster 和Virils)的热刺激基因(Hsp70)顺序的比较,我们发现邻近RNA 起始位点的顺序,在进化上是很保守的。TATA 盒和Felham 相同顺序都在其中,并含有数处同源顺序。     

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

3MC syndrome has been proposed as a unifying term encompassing the overlapping Carnevale, Mingarelli, Malpuech and Michels syndromes. These rare autosomal recessive disorders exhibit a spectrum of developmental features, including characteristic facial dysmorphism, cleft lip and/or palate, craniosynostosis, learning disability and genital, limb and vesicorenal anomalies. Here we studied 11 families with 3MC syndrome and identified two mutated genes, COLEC11 and MASP1, both of which encode proteins in the lectin complement pathway (collectin kidney 1 (CL-K1) and MASP-1 and MASP-3, respectively). CL-K1 is highly expressed in embryonic murine craniofacial cartilage, heart, bronchi, kidney and vertebral bodies. Zebrafish morphants for either gene develop pigmentary defects and severe craniofacial abnormalities. Finally, we show that CL-K1 serves as a guidance cue for neural crest cell migration. Together, these findings demonstrate a role for complement pathway factors in fundamental developmental processes and in the etiology of 3MC syndrome.