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
Neurodegenerative diseases are collective diseases that affect different parts of the brain with common or distinct disease phenotype. In almost all of the Prion diseases, motor impairments that are characterized by m...Neurodegenerative diseases are collective diseases that affect different parts of the brain with common or distinct disease phenotype. In almost all of the Prion diseases, motor impairments that are characterized by motor derangement, apathy, ataxia, and myoclonus are documented and again are shared by motor neuron diseases (MND). Proteins such as;B-Cell lymphoma 2 (BCL2), Copper chaperone for superoxide dismutase (CCS), Amyloid beta precursor protein (APP), Amyloid Precursor-Like Protein1/2 (APLP1/2), Catalase (CAT), and Stress induced phosphoprotein 1 (STIP1), are common interactomes of Prion and superoxide dismutase 1 (SOD1). Although there is no strong evidence to show the interaction of SOD1 and Prion, the implicated common interacting proteins indicate the potential bilateral interaction of those proteins in health and disease. For example, down-regulation of Heat shock protein A (HSPA5), a Prion interactome, increases accumulation of misfolded SOD1 leading to MND. Loss of Cu uptake function disturbs normal function of CCS. Over-expressed proteasome subunit alpha 3 (PSMA3) could fatigue its normal function of removing misfolded proteins. Studies showed the increase in CAT and lipid oxidation both in Prion-knocked out animal and in catalase deficiency cases. Up regulation, down regulation or direct interaction with their interactomes are predicted molecular mechanisms by which Prion and SOD exert their effect. The loss of protective function or the gain of a novel toxic property by the principal proteins is shared in Prion and MND. Thus, it might be possible to conclude that the interplay of proteins displayed in both diseases could be a key phenomenon in motor dysfunction development.展开更多
Copy number variations (CNVs) that are frequent in genome influence on susceptibility of various diseases including cancers. The present mini-review focuses on CNVs associated with susceptibility to the cancers. Since...Copy number variations (CNVs) that are frequent in genome influence on susceptibility of various diseases including cancers. The present mini-review focuses on CNVs associated with susceptibility to the cancers. Since CNVs are different between cancer types, the analysis of the specific CNV makes it possible to estimate the susceptibility to the cancers of interest in individuals. Although it is true that available data on CNVs associated with cancer susceptibility are limited at present, accumulation of the data is accelerated with the research progression of CNVs in near future. Information on CNVs associated with cancer susceptibility is useful for not only cancer research but also personalized healthcare including cancer prevention.展开更多
Two Chinese domestic yak populations representing the Plateau type and the Huanhu Alpine type were analysed with 12 bovine microsatellite primers.All primer pairs functioned in the yak genome and polymorphism was foun...Two Chinese domestic yak populations representing the Plateau type and the Huanhu Alpine type were analysed with 12 bovine microsatellite primers.All primer pairs functioned in the yak genome and polymorphism was found at all loci.The allele size ranges and frequencies of the two yak populations were similar and there was considerable overlap with the allele size ranges observed in cattle.Data for European cattle breeds was obtained from the Cattle Diversity Database(CaDBase)to interpret the heterozygosity and genetic distance estimates in yak populations.Heterozygosity estimated for the two yak populations was comparable to that of European cattle while Nei's Genetic Distance DA between the two yak populations was less than distances between the most closely related German cattle breeds.Bovine microsatellite primers proved to be a valuable tool for characterization of yak populations.展开更多
Feeding systems for dairy ruminants need to ensure high intake of energy to achieve maximum milk production potential. This might be accomplished by raising the dietary concentration of cereal grain. Increasing the co...Feeding systems for dairy ruminants need to ensure high intake of energy to achieve maximum milk production potential. This might be accomplished by raising the dietary concentration of cereal grain. Increasing the concentration of starch in diets can lead to undesirable ruminal fermentation, and to prevent it, the partial replacement of cereal grain with low starch by-product feeds is recommended. The purpose of the present study was to compare the effect of fed two mixed diets to dairy goats differing in the type of carbohydrate (starch vs. easily degradable fiber). Energy and nitrogen balance, short chain fatty acids in rumen liquor and milk performance in dairy goats during mid lactation were determined. Enteric methane (CH4) emissions and CH4 production from manure were determined as well. Ten multiparous Muciano-Granadina goats were assigned to two isoenergetic and isoproteic diets (19.1 MJ/kg dry matter (DM) and 18.1% of CP, DM basis) in a crossover design. One group was fed a mixed ration with 21.9% of starch (HS diet) and the other (LS diet) with 7.0% of starch. HS diet had 36% of barley (as source of starch) and it was replaced with soy hulls and corn gluten feed in LS diet (as potentially digestible fiber). No differences were observed for dry matter intake in both diets (2.05 kg/d, on average). A significant increase of ruminal acetic acid was found for low starch diet (66.4 and 56.6 mol/100 mol for LS and HS diet, respectively). No significant effect was found among diets for enteric CH4 emissions (28.5 g/d, on average). Manure derived maximum potential yield was (Bo) higher in HS diet, with 5.9 L CH4/kg OM vs. 0.28 L CH4/kg OM for LS diet, probably associated with the low ADF digestibility. Differences among diets were found for milk production (2.4 vs. 2.2 kg/d for HS and LS, respectively), and greater milk fat was observed with LS diet compared with HS (6.4% vs. 5.5%, respectively).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.
文摘Neurodegenerative diseases are collective diseases that affect different parts of the brain with common or distinct disease phenotype. In almost all of the Prion diseases, motor impairments that are characterized by motor derangement, apathy, ataxia, and myoclonus are documented and again are shared by motor neuron diseases (MND). Proteins such as;B-Cell lymphoma 2 (BCL2), Copper chaperone for superoxide dismutase (CCS), Amyloid beta precursor protein (APP), Amyloid Precursor-Like Protein1/2 (APLP1/2), Catalase (CAT), and Stress induced phosphoprotein 1 (STIP1), are common interactomes of Prion and superoxide dismutase 1 (SOD1). Although there is no strong evidence to show the interaction of SOD1 and Prion, the implicated common interacting proteins indicate the potential bilateral interaction of those proteins in health and disease. For example, down-regulation of Heat shock protein A (HSPA5), a Prion interactome, increases accumulation of misfolded SOD1 leading to MND. Loss of Cu uptake function disturbs normal function of CCS. Over-expressed proteasome subunit alpha 3 (PSMA3) could fatigue its normal function of removing misfolded proteins. Studies showed the increase in CAT and lipid oxidation both in Prion-knocked out animal and in catalase deficiency cases. Up regulation, down regulation or direct interaction with their interactomes are predicted molecular mechanisms by which Prion and SOD exert their effect. The loss of protective function or the gain of a novel toxic property by the principal proteins is shared in Prion and MND. Thus, it might be possible to conclude that the interplay of proteins displayed in both diseases could be a key phenomenon in motor dysfunction development.
文摘Copy number variations (CNVs) that are frequent in genome influence on susceptibility of various diseases including cancers. The present mini-review focuses on CNVs associated with susceptibility to the cancers. Since CNVs are different between cancer types, the analysis of the specific CNV makes it possible to estimate the susceptibility to the cancers of interest in individuals. Although it is true that available data on CNVs associated with cancer susceptibility are limited at present, accumulation of the data is accelerated with the research progression of CNVs in near future. Information on CNVs associated with cancer susceptibility is useful for not only cancer research but also personalized healthcare including cancer prevention.
文摘Two Chinese domestic yak populations representing the Plateau type and the Huanhu Alpine type were analysed with 12 bovine microsatellite primers.All primer pairs functioned in the yak genome and polymorphism was found at all loci.The allele size ranges and frequencies of the two yak populations were similar and there was considerable overlap with the allele size ranges observed in cattle.Data for European cattle breeds was obtained from the Cattle Diversity Database(CaDBase)to interpret the heterozygosity and genetic distance estimates in yak populations.Heterozygosity estimated for the two yak populations was comparable to that of European cattle while Nei's Genetic Distance DA between the two yak populations was less than distances between the most closely related German cattle breeds.Bovine microsatellite primers proved to be a valuable tool for characterization of yak populations.
基金supported by INIA Project,Spain(ref.RTA2011-00107-C02).
文摘Feeding systems for dairy ruminants need to ensure high intake of energy to achieve maximum milk production potential. This might be accomplished by raising the dietary concentration of cereal grain. Increasing the concentration of starch in diets can lead to undesirable ruminal fermentation, and to prevent it, the partial replacement of cereal grain with low starch by-product feeds is recommended. The purpose of the present study was to compare the effect of fed two mixed diets to dairy goats differing in the type of carbohydrate (starch vs. easily degradable fiber). Energy and nitrogen balance, short chain fatty acids in rumen liquor and milk performance in dairy goats during mid lactation were determined. Enteric methane (CH4) emissions and CH4 production from manure were determined as well. Ten multiparous Muciano-Granadina goats were assigned to two isoenergetic and isoproteic diets (19.1 MJ/kg dry matter (DM) and 18.1% of CP, DM basis) in a crossover design. One group was fed a mixed ration with 21.9% of starch (HS diet) and the other (LS diet) with 7.0% of starch. HS diet had 36% of barley (as source of starch) and it was replaced with soy hulls and corn gluten feed in LS diet (as potentially digestible fiber). No differences were observed for dry matter intake in both diets (2.05 kg/d, on average). A significant increase of ruminal acetic acid was found for low starch diet (66.4 and 56.6 mol/100 mol for LS and HS diet, respectively). No significant effect was found among diets for enteric CH4 emissions (28.5 g/d, on average). Manure derived maximum potential yield was (Bo) higher in HS diet, with 5.9 L CH4/kg OM vs. 0.28 L CH4/kg OM for LS diet, probably associated with the low ADF digestibility. Differences among diets were found for milk production (2.4 vs. 2.2 kg/d for HS and LS, respectively), and greater milk fat was observed with LS diet compared with HS (6.4% vs. 5.5%, respectively).
