Copy number variants (CNVs) are pieces of genomic DNA of 1000 base pairs or longer which occur in a given genome at a different frequency than in a reference genome. Their importance as a source for phenotypic variabi...Copy number variants (CNVs) are pieces of genomic DNA of 1000 base pairs or longer which occur in a given genome at a different frequency than in a reference genome. Their importance as a source for phenotypic variability has been recognized only in the last couple of years. Chromosomal deletions can be seen as a special case of CNVs where stretches of DNA are missing in certain lines when compared to the reference genome of the mouse line C57BL/6, for example. Based upon more than 8 million single nucleotide polymorphisms (SNPs) in the fifteen inbred mouse lines which were determined in a whole genome chip based resequencing project by Perlegen Sciences, we detected 20166 such long chromosomal deletions. They cover altogether between 4.4 million and 8.8 million base pairs, depending on the mouse line. Thus, their extent is comparable to that of SNPs. The chromosomal deletions were found by searching for clusters of missing values in the genotyping data by applying bioinformatics and biostatistical methods. In contrast to isolated missing values, clusters are likely the consequence of missing DNA probe rather than of a failed hybridization or deficient oligos. We analyzed these deletion sites in various ways. Twenty-two percent of these deletion sites overlap with exons; they could therefore affect a gene's functioning. The corresponding genes seem to exist in alternative forms, a phenomenon that reminds of the alternative forms of mRNA generated during gene splicing. We furthermore detected statistically significant association between hundreds of deletion sites and fat weight at the age of eight weeks.展开更多
The dependence of starting materials and their initial grain sizes on the formation of gases （H2, CH4, C2H6 and C3Hs） during serpentinization was investigated by conducting hydrothermal experiments at 311℃ and 3 kb...The dependence of starting materials and their initial grain sizes on the formation of gases （H2, CH4, C2H6 and C3Hs） during serpentinization was investigated by conducting hydrothermal experiments at 311℃ and 3 kbar on olivine and peridotite with initial grain sizes ranging from 〈30 to 177 μm. Hydrocarbons （CH4, C2H6 and C3H8） were produced from reaction between dissolved CO2 in the starting fluids and HE formed during serpentinization, which were analyzed by Gas Chromatography. It was found that olivine serpentinization produced much less H2 and CH4 compared with those after peridotite alteration, while their C2H6 and C3H8 were identical. For example, for olivine with initial grain sizes of 〈30 μm, the amounts of HE and CH4 were 79.6 mmol/kg and 460 μmol/kg after 27 days, respectively. By contrast, the quantities of H2 and CH4 produced in experiment on peridotite with the same run duration were much larger, 119 mmol/kg and 1300 μmol/kg, respectively. This indicates that spinel and pyroxene in peridotite may increase the amounts of HE and hydrocarbons, possibly due to the catalytic effect of aluminum released by spinel and pyroxene during serpentinization. Moreover, the production of H2 and hydrocarbons is negatively correlated with initial grain sizes of the starting material, with smaller amounts of HE and hydrocarbons for larger initial grain sizes, indicating that the kinetics of serpentinization influences the formation of HE and hydrocarbons, possibly because of the lack of catalytic minerals for the starting material with larger grain sizes. This study suggests that olivine cannot completely represent peridotite during serpentinization, and that H2 and hydrocarbons in hydrothermal fields near the mid-ocean ridge may be produced in a very long period of serpentinization or the presence of catalytic minerals due to large grain sizes of ultramafic rocks.展开更多
基金Project supported by the German Ministry of Education and Research (BMBF) through the National Genome Research Network(NGFN) (Nos. 01GS0486 and 01GR0460)the DeutscheForschungsgemeinschaft (DFG) for a Travel Grant to Armin O.Schmitt
文摘Copy number variants (CNVs) are pieces of genomic DNA of 1000 base pairs or longer which occur in a given genome at a different frequency than in a reference genome. Their importance as a source for phenotypic variability has been recognized only in the last couple of years. Chromosomal deletions can be seen as a special case of CNVs where stretches of DNA are missing in certain lines when compared to the reference genome of the mouse line C57BL/6, for example. Based upon more than 8 million single nucleotide polymorphisms (SNPs) in the fifteen inbred mouse lines which were determined in a whole genome chip based resequencing project by Perlegen Sciences, we detected 20166 such long chromosomal deletions. They cover altogether between 4.4 million and 8.8 million base pairs, depending on the mouse line. Thus, their extent is comparable to that of SNPs. The chromosomal deletions were found by searching for clusters of missing values in the genotyping data by applying bioinformatics and biostatistical methods. In contrast to isolated missing values, clusters are likely the consequence of missing DNA probe rather than of a failed hybridization or deficient oligos. We analyzed these deletion sites in various ways. Twenty-two percent of these deletion sites overlap with exons; they could therefore affect a gene's functioning. The corresponding genes seem to exist in alternative forms, a phenomenon that reminds of the alternative forms of mRNA generated during gene splicing. We furthermore detected statistically significant association between hundreds of deletion sites and fat weight at the age of eight weeks.
基金financially supported by the National Natural Science Foundation of China(Grant Nos.4109037341121002+2 种基金41103012 and 41173069)the Strategic Priority Research Program of the Chinese Academy of Sciences(Grant No.XDB06030100)also by Postdoctoral Science Foundation of China(Grant No.2015M570735)
文摘The dependence of starting materials and their initial grain sizes on the formation of gases （H2, CH4, C2H6 and C3Hs） during serpentinization was investigated by conducting hydrothermal experiments at 311℃ and 3 kbar on olivine and peridotite with initial grain sizes ranging from 〈30 to 177 μm. Hydrocarbons （CH4, C2H6 and C3H8） were produced from reaction between dissolved CO2 in the starting fluids and HE formed during serpentinization, which were analyzed by Gas Chromatography. It was found that olivine serpentinization produced much less H2 and CH4 compared with those after peridotite alteration, while their C2H6 and C3H8 were identical. For example, for olivine with initial grain sizes of 〈30 μm, the amounts of HE and CH4 were 79.6 mmol/kg and 460 μmol/kg after 27 days, respectively. By contrast, the quantities of H2 and CH4 produced in experiment on peridotite with the same run duration were much larger, 119 mmol/kg and 1300 μmol/kg, respectively. This indicates that spinel and pyroxene in peridotite may increase the amounts of HE and hydrocarbons, possibly due to the catalytic effect of aluminum released by spinel and pyroxene during serpentinization. Moreover, the production of H2 and hydrocarbons is negatively correlated with initial grain sizes of the starting material, with smaller amounts of HE and hydrocarbons for larger initial grain sizes, indicating that the kinetics of serpentinization influences the formation of HE and hydrocarbons, possibly because of the lack of catalytic minerals for the starting material with larger grain sizes. This study suggests that olivine cannot completely represent peridotite during serpentinization, and that H2 and hydrocarbons in hydrothermal fields near the mid-ocean ridge may be produced in a very long period of serpentinization or the presence of catalytic minerals due to large grain sizes of ultramafic rocks.
