Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population

Background: Dentin phosphoprotein ( DPP) is the most abundant non-collagenous protein in dentin, which is highly phosphorylated and plays key roles in dentin biomineralisation. The aetiology of isolated hereditary dentin disorders in most affected familie

Positive Darwinian selection in human population: A review

This paper reviews a large number of genes under positive Darwinian selection in modern human populations, such as brain development genes, immunity genes, reproductive related genes, perception receptors. The research on the evolutionary property of thes

First Identification of the Hepatotoxic Microcystins in the Serum of a Chronically Exposed Human Population Together with Indication of Hepatocellular Damage

Hepatotoxic microcystins (MCs) are the most commonly reported cyanotoxins in eutrophic freshwaters. In 1996, human intoxications by MCs caused deaths of 76 patients at Caruaru dialysis centers in Brazil. So far, there have been no direct evidences of MC occurrence in human tissue in consequence of exposure to MC. In this study, we improved cleanup procedures for detecting MCs in serum sample using liquid chromatographymass spectrometry, and confirmed for the first time the presence of MCs in serum samples (average 0.39 ng/ml, which amounts to ca. 1/87 of the concentrations found in tissue samples of the Caruaru victims) of fishermen at Lake Chaohu. Daily intake by the fishermen was estimated to be in the range of 2.2-3.9 mu g MC-LReq, whereas the provisional World Health Organization tolerable daily intake (TDI) for daily lifetime exposure is 0.04 mu g/kg or 2-3 mu g per person. Moreover, statistical analysis showed closer positive relationships between MC serum concentrations and concentrations of alanine aminotransferase, aspartate aminotransferase, alkaline phosphatase, and lactate dehydrogenase than between the MC concentrations and other biochemical indicators. Thus, the data raise the question whether extended exposure in the range of the TDI or up to a factor of 10 above it may already lead to indication of liver damage. The results also demonstrate a risk of health effects from chronic exposure to MCs at least for populations with high levels of exposure, like these fishermen.

A critical reassessment of the role of mitochondria in tumorigenesis

Background Mitochondrial DNA (mtDNA) is being analyzed by an increasing number of laboratories in order to investigate its potential role as an active marker of tumorigenesis in various types of cancer. Here we question the conclusions drawn in most of these investigations, especially those published in high-rank cancer research journals, under the evidence that a significant number of these medical mtDNA studies are based on obviously flawed sequencing results. Methods and Findings In our analyses, we take a phylogenetic approach and employ thorough database searches, which together have proven successful for detecting erroneous sequences in the fields of human population genetics and forensics. Apart from conceptual problems concerning the interpretation of mtDNA variation in tumorigenesis, in most cases, blocks of seemingly somatic mutations clearly point to contamination or sample mix-up and, therefore, have nothing to do with tumorigenesis. Conclusion The role of mitochondria in tumorigenesis remains unclarified. Our findings of laboratory errors in many contributions would represent only the tip of the iceberg since most published studies do not provide the raw sequence data for inspection, thus hindering a posteriori evaluation of the results. There is no precedent for such a concatenation of errors and misconceptions affecting a whole subfield of medical research.

Bird and mammal conservation in Gaoligongshan Region and Jingdong County, Yunnan, China: patterns of species richness and nature reserves

Elevational and latitudinal patterns of species richness for birds and mammals were compared with human population density in relation to nature reserve designation in two areas of Yunnan Province, China. Results suggest that species richness is not the same for the two areas. In Gaoligongshan Region, species richness is inversely correlated with elevation and altitude, while reserve designation is positively correlated with elevation and latitude. In Jingdong County, reserve designations are positively correlated with elevation, but species richness shows no clear trends. In general, the present situation is strongly influenced by human activities. It appears that reserve designation is mismatched with species richness in Gaoligongshan Region, while there is a better fit between the two in Jingdong County. In both areas, however, it appeared that reserves were located primarily in order to reduce conflict with humans rather than to maximize conservation of biodiversity, probably because humans were responsible for forest-especially primary forest-destruction and degradation in the low-lying areas.

Habitat degradation of Rhinopithecus bieti in Yunnan, China

Black-and-white snub-nosed monkeys (Rhinopithecus bieti) are endemic to the Trans-Himalayas in Northwest Yunnan and Southeast Tibet between the upper Yangtze and Mekong Rivers. Based on field surveys and previous reports, we identified the dark-coniferous forest, the mixed coniferous and broadleaf forest, and oak patches as suitable habitats (SH) for the monkeys. Summer grazing lands (SGL), which were made by local people cutting and burning the dark-coniferous forest at the high altitude belt, replaced SH. To have a general view of the status of the SH in Yunnan, we estimated the areas of SH and SGL from satellite images in 1997, and compared with areas estimated from aerial photo-based maps (ca. 1958). The work resulted in: 1) the area of SH was 4,169 km(2) in 1997; 2) SGL was 1,923 km(2); 3) during the past 40 years, the area of SH decreased by 31% (1,887 km(2)), and SGL increased by 204% (1,291 km(2)); and 4) the mean size of forest patches decreased from 15.6 to 5.4 km(2). In addition, the area of SGL is positively correlated to local human population (R-2 greater than or equal to0.53), implying that the reduction and fragmentation of habitat for Rhinopithecus bieti is a result of population growth of humans, who mostly employ traditional modes of production. Only 11 monkey groups remained in the changing habitat. Considering that forests at lower elevation were also encroached upon by farmlands in a similar way, the forest ecosystem is highly threatened. The destruction will continue unless there is a change in the mode of production in the region.

Radiosensitivity to high energy iron ions is influenced by heterozygosity for Atm, Rad9 and Brca1

Loss of function of DNA repair genes has been implicated in the development of many types of cancer. In the last several years, heterozygosity leading to haploinsufficiency for proteins involved in DNA repair was shown to play a role in genomic instability and carcinogenesis after DNA damage is induced, for example by ionizing radiation. Since the effect of heterozygosity for one gene is relatively small, we hypothesize that predisposition to cancer could be a result of the additive effect of heterozygosity for two or more genes critical to pathways that control DNA damage signaling, repair or apoptosis. We investigated the role of heterozygosity for Aim, Rad9 and Brad on cell oncogenic transformation and cell survival induced by 1 GeV/n Fe-56 ions. Our results show that cells heterozygous for both Aim and Rad9 or A tin and Brca1 have high survival rates and are more sensitive to transformation by high energy iron ions when compared with wild-type controls or cells haploinsufficient for only one of these proteins. Since mutations or polymorphisms for similar genes exist in a small percentage of the human population, we have identified a radiosensitive sub-population. This finding has several implications. First, the existence of a radiosensitive sub-population may distort the shape of the dose response relationship. Second, it would not be ethical to put exceptionally radiosensitive individuals into a setting where they may potentially be exposed to substantial doses of radiation. (C) 2010 COSPAR. Published by Elsevier Ltd. All rights reserved.

A Global Crisis for Seagrass Ecosystems

Seagrasses, marine flowering plants, have a long evolutionary history but are now challenged with rapid environmental changes as a result of coastal human population pressures. Seagrasses provide key ecological services, including organic carbon production and export, nutrient cycling, sediment stabilization, enhanced biodiversity, and trophic transfers to adjacent habitats in tropical and temperate regions. They also serve as “coastal canaries,” global biological sentinels of increasing anthropogenic influences in coastal ecosystems, with large-scale losses reported worldwide. Multiple stressors, including sediment and nutrient runoff, physical disturbance, invasive species, disease, commercial fishing practices, aquaculture, overgrazing, algal blooms, and global warming, cause seagrass declines at scales of square meters to hundreds of square kilometers. Reported seagrass losses have led to increased awareness of the need for seagrass protection, monitoring, management, and restoration. However, seagrass science, which has rapidly grown, is disconnected from public awareness of seagrasses, which has lagged behind awareness of other coastal ecosystems. There is a critical need for a targeted global conservation effort that includes a reduction of watershed nutrient and sediment inputs to seagrass habitats and a targeted educational program informing regulators and the public of the value of seagrass meadows.

Dinoflagellate Cysts as Indicators of Cultural Eutrophication in the Oslofjord, Norway

Dinoflagellate cyst records were analysed from four sediment cores from the inner Oslofjord. The cores covered the pre-industrial period, and the most important period of human population growth associated with industrial development of the region, from the mid-1800s to the present, including the reported development of cultural eutrophication. Comparisons between the cyst records and the known history of eutrophication suggest cyst signals that should prove useful for tracing the development of eutrophication. The eutrophication signal consisted of a doubling of total cyst concentration, and a marked increase in one species in particular,Lingulodinium machaerophorum(from <5 to around 50% of the assemblages) with increased eutrophication. In the core considered most representative of general water quality in the inner fjord, these trends reversed back to pre-industrial levels during the 1980s and 1990s when improved sewage treatment took effect.

环境变迁在中国文明形成中的作用

The formation of civilization, one of great marks in the history of human's society development, has been remained one of the hottest topics in the world. Many theories have been put ford to explain its causes and mechanisms. Although more attentions have been paid to its development, the role of environmental change should not be ignored. In this paper, the level of ancient farming productivity was analyzed, the mechanisms and the process of Chinese ancient civilization formation was explored, and some causes why Chinese ancient civilization shows many different features from other 5 ancient civilizations of the world was analyzed. The main results and conclusions are presented as followed. 1. Compared with the productivity level of other five ancient civilizations, the productivity of ancient China characterized by a feature of extensive not intensive cultivation was lower than that of other five ancient civilizations whose agriculture were based on irrigation. 2. The 5 5000 a B.P. cold event may have facilitated the formation of Egypt and Mesopotamian ancient civilizations and also have had an influence on the development of Neolithic culture in China. 3. The 4 000 a B.P. cold event, which may be the coldest period since the Younger Dryas cold event and signifies the changes from the early Holocene Climate Optimum to late Holocene in many regions of the world, resulted in the great migration of the Indo-European peoples from north Europe to other part of the World and the collapses of ancient civilizations in Egypt, Indus and the Mesopotamian and the collapse of five Neolithic cultures around central China. More important than that is the emergence of Chinese civilization during the same period. Many theories have been put ford to explain why it was in Zhongyuan area not other places whose Neolithic cultures seem more advanced that gave rise to civilization. For now no theory could explain it satisfiedly. Archaeological evidence clearly demonstrate that war was prevailed the whole China especially during the late Longshan culture period, so it seemed war has played a very important role in the emergence of China ancient civilization. Carneiro sees two conditions as essential to the formation of complex societies in concert with warfare, i.e. population growth and environmental circumscription. It was generally through that China couldn't evolved into the environmental circumscription and population pressure because China has extensive areas to live, but that depends on situations. The environmental circumscription area was formed due to the 4000a B.P. cold event and companied flooding disasters, while the population pressure is formed due to three factors; 1) population grow rapidly because of the suitable environment provided by the Holocene Optimum and thus laid its foundations for the ancient human population; 2) population pressure is also related to the primitive agricultural level characterized by extensive not intensive cultivation; 3) population pressure was mainly related to the great migrations of people to the same areas; 4) population pressure was also related to productivity decrease due to the 4 000a B.P. cold event. 4. When population pressure is formed, war is the most possible way to solve the intensions between population and the limited cultivated land and then resulted in the formation of civilization. In this way the climate change during the 4 000a B.P. cold event may have facilitated the emergence of Chinese ancient civilization. Their detailed relations could also be further understood in this way: The first birth places of China ancient civilization could be in Changjiang areas or (and) Daihai area, Shandong province rather than in central China and the emergence time of ancient civilization formed in central China should be delayed if the 4 000a B.P. cold event and companied flooding disasters didn't occurred.

A common SNP of MCPH1 is associated with cranial volume variation in Chinese population

Microcephaly (MCPH) genes are informative in understanding the genetics and evolution of human brain volume. MCPH1 and abnormal spindle-like MCPH associated (ASPM) are the two known MCPH causing genes that were suggested undergone recent positive selectio

Mitochondrial DNA variation, effective female population size and population history of the endangered Chinese sturgeon, Acipenser sinensis

The anadromous Chinese sturgeon (Acipenser sinensis), mainly endemic to the Yangtze River in China, is an endangered fish species. The natural population has declined since the Gezhouba Dam blocked its migratory route to the spawning grounds in 1981. In the near future, the completion of the Three Gorges Dam, the world's largest hydroelectric project, may further impact this species by altering the water flow of the Yangtze River. Little is currently known about the population genetic structure of the Chinese sturgeon. In this study, DNA sequence data were determined from the control region (D-loop) of the mitochondrial genome of adult sturgeons (n = 106) that were collected between 1995-2000. The molecular data were used to investigate genetic variation, effective female population size and population history of the Chinese sturgeon in the Yangtze River. Our results indicate that the reduction in abundance did not change genetic variation of the Chinese sturgeon, and that the population underwent an expansion in the past. AMOVA analysis indicated that 98.7% of the genetic variability occurred within each year's spawning populations, the year of collection had little influence on the diversity of annual temporary samples. The relative large effective female population size (N-ef) indicates that good potential exists for the recovery of this species in the future. Strikingly, the ratio of N-ef to the census female population size (N-f) is unusually high (0.77-0.93). This may be the result of a current bottleneck in the population of the Chinese sturgeon that is likely caused by human intervention.

Insight into human sex ratio imbalance: the more boys born, the more infertile men

This study investigated, through large-scale statistical analysis of the global population, whether the human sex ratio is skewing worldwide, and if so, why and how it shifts, and the impact of any shift on human reproduction. A significant imbalance of t

Absence of association between SNPs in the promoter region of the insulin-like growth factor 1 (IGF-1) gene and longevity in the Han Chinese population

Previous studies have indicated that genetic variations in the factors of insulin/insulin-like growth factor 1 (IGF-1) signaling pathway could influence human life-span by affecting IGF-1 levels. The promoter region of the IGF-1 gene is an obvious candida