Distinct mitochondrial retrograde signals control the G1-S cell cycle checkpoint

During electron transport, the mitochondrion generates ATP and reactive oxygen species (ROS), a group of partially reduced and highly reactive metabolites of oxygen. In this in vivo genetic analysis in Drosophila melanogaster, we establish that disruption of complex I of the mitochondrial electron transport chain specifically retards the cell cycle during the G1-S transition. The mechanism involves a specific signaling cascade initiated by ROS and transduced by ASK-1, JNK, FOXO and the Drosophila p27 homolog, Dacapo. On the basis of our data combined with previous analyses of the system, we conclude that mitochondrial dysfunction activates at least two retrograde signals to specifically enforce a G1-S cell cycle checkpoint. One such signal involves an increase in AMP production and downregulation of cyclin E protein; another independent pathway involves increased ROS and upregulation of Dacapo. Thus, our results indicate that the mitochondrion can use AMP and ROS at sublethal concentrations as independent signaling molecules to modulate cell cycle progression.     

Genome-wide association studies of 14 agronomic traits in rice landraces

Uncovering the genetic basis of agronomic traits in crop landraces that have adapted to various agro-climatic conditions is important to world food security. Here we have identified ～ 3.6 million SNPs by sequencing 517 rice landraces and constructed a high-density haplotype map of the rice genome using a novel data-imputation method. We performed genome-wide association studies (GWAS) for 14 agronomic traits in the population of Oryza sativa indica subspecies. The loci identified through GWAS explained ～ 36% of the phenotypic variance, on average. The peak signals at six loci were tied closely to previously identified genes. This study provides a fundamental resource for rice genetics research and breeding, and demonstrates that an approach integrating second-generation genome sequencing and GWAS can be used as a powerful complementary strategy to classical biparental cross-mapping for dissecting complex traits in rice.     

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

Attention deficit hyperactivity disorder (ADHD) is a common, heritable neuropsychiatric disorder of unknown etiology. We performed a whole-genome copy number variation (CNV) study on 1,013 cases with ADHD and 4,105 healthy children of European ancestry using 550,000 SNPs. We evaluated statistically significant findings in multiple independent cohorts, with a total of 2,493 cases with ADHD and 9,222 controls of European ancestry, using matched platforms. CNVs affecting metabotropic glutamate receptor genes were enriched across all cohorts (P = 2.1 × 10(-9)). We saw GRM5 (encoding glutamate receptor, metabotropic 5) deletions in ten cases and one control (P = 1.36 × 10(-6)). We saw GRM7 deletions in six cases, and we saw GRM8 deletions in eight cases and no controls. GRM1 was duplicated in eight cases. We experimentally validated the observed variants using quantitative RT-PCR. A gene network analysis showed that genes interacting with the genes in the GRM family are enriched for CNVs in ～10% of the cases (P = 4.38 × 10(-10)) after correction for occurrence in the controls. We identified rare recurrent CNVs affecting glutamatergic neurotransmission genes that were overrepresented in multiple ADHD cohorts.     

Genome-wide association study of leaf architecture in the maize nested association mapping population

US maize yield has increased eight-fold in the past 80 years, with half of the gain attributed to selection by breeders. During this time, changes in maize leaf angle and size have altered plant architecture, allowing more efficient light capture as planting density has increased. Through a genome-wide association study (GWAS) of the maize nested association mapping panel, we determined the genetic basis of important leaf architecture traits and identified some of the key genes. Overall, we demonstrate that the genetic architecture of the leaf traits is dominated by small effects, with little epistasis, environmental interaction or pleiotropy. In particular, GWAS results show that variations at the liguleless genes have contributed to more upright leaves. These results demonstrate that the use of GWAS with specially designed mapping populations is effective in uncovering the basis of key agronomic traits.     

"哲人石·科学史与科学文化系列"译丛简介

今年是中国科学院自然科学史研究所成立五十周年.五十年来该所取得了一大批在国内外学术界尤其是科学史界有重大影响的成果、开辟了一系列的研究领域、培养了许多学生,为科学史学在中国建制化与再建制化作出了应有的贡献.为庆贺中国科学院自然科学史研究所成立五十周年,本刊特请研究所研究人员就近期主持的研究方向或项目逐一介绍,以期学术界对中国科学院自然科学史研究所近期的学术动态有所了解,便于广泛地交流与合作.     

Petrological implication of wagnerite-Ma5bc in the quartzofeldspathic gneiss, Larsemann Hills, East Antarctica

Mg dominantmineralsofwagnerite triplite group,i.e.(Mg,Fe,Mn)2(PO4)(F,OH),arerelativelyrare,buthavebeenfoundinawidevariety ofgeologicenvironments,includingmetamorphic rocksofallgrades[1]suchasquartz carbonateveinsof hydrothermalorigin,pegmatites,kyanite quartzite,micaschist,sillimanitegneiss,andmagnetiteores.Uptonow,wagneriteispresentmainlyasthe Ma2bcpolytype,anaccessorymineralincalcium poorrocks[2,5]inwhichapatite,ifpresent,oftenoc cursasretrograderimaroundwagnerite.Henriques[6]reportedasma…     

The impact of surface-adsorbed phosphorus on phytoplankton Redfield stoichiometry

The Redfield ratio of 106 carbon:16 nitrogen:1 phosphorus in marine phytoplankton is one of the foundations of ocean biogeochemistry, with applications in algal physiology, palaeoclimatology and global climate change. However, this ratio varies substantially in response to changes in algal nutrient status and taxonomic affiliation. Here we report that Redfield ratios are also strongly affected by partitioning into surface-adsorbed and intracellular phosphorus pools. The C:N:surface-adsorbed P (80-105 C:15-18 N:1 P) and total (71-80 C:13-14 N:1 P) ratios in natural populations and cultures of Trichodesmium were close to Redfield values and not significantly different from each other. In contrast, intracellular ratios consistently exceeded the Redfield ratio (316-434 C:59-83 N:1 intracellular P). These high intracellular ratios were associated with reduced N2 fixation rates, suggestive of phosphorus deficiency. Other algal species also have substantial surface-adsorbed phosphorus pools, suggesting that our Trichodesmium results are generally applicable to all phytoplankton. Measurements of the distinct phytoplankton phosphorus pools may be required to assess nutrient limitation accurately from elemental composition. Deviations from Redfield stoichiometry may be attributable to surface adsorption of phosphorus rather than to biological processes, and this scavenging could affect the interpretation of marine nutrient inventories and ecosystem models.     

Pathology: whales, sonar and decompression sickness

We do not yet know why whales occasionally strand after sonar has been deployed nearby, but such information is important for both naval undersea activities and the protection of marine mammals. Jepson et al. suggest that a peculiar gas-forming disease afflicting some stranded cetaceans could be a type of decompression sickness (DCS) resulting from exposure to mid-range sonar. However, neither decompression theory nor observation support the existence of a naturally occurring DCS in whales that is characterized by encapsulated, gas-filled cavities in the liver. Although gas-bubble formation may be aggravated by acoustic energy, more rigorous investigation is needed before sonar can be firmly linked to bubble formation in whales.