The 'central dogma 'of molecular biology indicated that the direction of the genetic information flow is from DNA - RNA - protein. However, up to now, the central dogma has not obtained a sufficient theoretica...The 'central dogma 'of molecular biology indicated that the direction of the genetic information flow is from DNA - RNA - protein. However, up to now, the central dogma has not obtained a sufficient theoretical support from cybernetics and information theory. In addition, some special cases in biology, such as, although the scrapie prion is irreversibly inactivated by alkali, five procedures with more specificity for modifying nucleic acids failed to cause inactivation and when a resting cell is activated by some factors and division occurs, protein synthesis has begun before DNA synthesis etc., are also very difficult to explain clearly by the central dogma. A broad outline of a mechanism for reverse translation can easily be 'designed', based on the normal translation process, and this serves both to prove that there is no fundamental theoretical reason for the central dogma, and to illustrate why the redundancy of genetic code is not a problem.This paper, based on some previous research work of authors, from the view of cybernetics, information theory and theoretical biology, explored the possibility of protein as a genetic information carrier, the probable pairing ways between ammo acids-codons, and the direction of genetic information flows etc., at theory, by comparing and analyzing theoretically the characteristics of information carriers existing in DNA and protein. The authors inferred that perhaps protein may join the informational transferring as a genetic information carrier; the direction of genetic information flows, besides the way described by the central dogma, seem also to have another type, that is, genetic information flowing from protein - DNA (RNA) - protein, which also includes the genetic information flow in the central dogma. Undoubtedly, the research on problems about the position and roles of protein during the genetic information transferring will have an important effect on the investigation and development of molecular biology, molecular genetics and gene engineering.展开更多
A questionnaire research in ethics was conducted to get the view of students of medical universities in Shanghai on genomics and genetic discrimination. We find that 66% respondents indicated their willingness to unde...A questionnaire research in ethics was conducted to get the view of students of medical universities in Shanghai on genomics and genetic discrimination. We find that 66% respondents indicated their willingness to understand the genetic information and 79% of respondents mind their own genetic information be aware of by other people. In contrast, 77% of the respondents believe that medical organization are not able to protect personal genetic information from disclose. Hence, it is significant to take some measures to preserve citizen's genetic information privacy. Depending on our results, we put forward our suggestion to this problem.展开更多
In this paper it is analyzed from the informational perspective the relation between mind and body, an ancientphilosophic issue defined as a problem, which still did not receive up to date an adequate solution. Byintr...In this paper it is analyzed from the informational perspective the relation between mind and body, an ancientphilosophic issue defined as a problem, which still did not receive up to date an adequate solution. Byintroducing/using the concept of information, it is shown that this concept includes two facets, one of themreferring to the common communications and another one referring to a hidden/structuring matter-relatedinformation, effectively acting in the human body and in the living systems, which determines the dynamicinter-change of information between specific structures of the organism by electric/electronic/chemical agents andgenetic/epigenetic processes. It is shown that the maintenance of body, permanently and obligatory depending onthe external matter (foods, air, water) resources, needed to provide both the structuring/restructuring basic materialand energy, determines the necessary existence of an info-managing system, administrating the internalmechano-chemical/physical processes. As a natural consequence, such a system should organize and assure ownsurvival by an effective informational operability to detect the external food resources, to select the appropriateinterest information and to decide as a function of circumstances. One important component in such aninformational system is memory, allowing to dispose of the reference informational data for analysis/comparisonand the selection between good and bad binary possible decisions. The memory receives and stores thereforesignals from external reality and from the body itself, referring to the emotional reaction, digestion status, creation,and inherited predilections, within specific info-neural communication circuits between the brain and bodyexecution/sensitive organs, the human body appearing as an integrated info-matter self-managed dynamic system.The specific body components memorize information with different degrees of info-integration: short/long-termintegration, emotive/action reaction, info-abilities, culminating with the integration in the chromosomal structuresby epigenetic processes. The new acquired information is transgenerationally transmissible, and is manifested asnew traits, showing the adaptation capability of the human and close relation between mind and body. Analyzingthe results of such a mind-body informational model in comparison with the earlier assumed/proposed/assertedarchaic, Greek and Occidental philosophies, which represent only partial aspects of this relation, it is shown thatthis informational model, elaborated in terms of information on the basis of scientific reasons and arguments,constitutes a general, realist, and coherent model of the mind-body relation, able to integrate and/or explain most ofthe others.展开更多
The introduction of next-generation sequencing(NGS) technology in testing for hereditary cancer susceptibility allows testing of multiple cancer susceptibility genes simultaneously. While there are many potential bene...The introduction of next-generation sequencing(NGS) technology in testing for hereditary cancer susceptibility allows testing of multiple cancer susceptibility genes simultaneously. While there are many potential benefits to utilizing this technology in the hereditary cancer clinic, including efficiency of time and cost, there are also important limitations that must be considered. The best panel for the given clinical situation should be selected to minimize the number of variants of unknown significance. The inclusion in panels of low penetrance or newly identified genes without specific actionability can be problematic for interpretation.Genetic counselors are an essential part of the hereditary cancer risk assessment team, helping the medical team select the most appropriate test and interpret the often complex results. Genetic counselors obtain an extended family history, counsel patients on the available tests and the potential implications of results for themselves and their family members(pre-test counseling), explain to patients the implications of the test results(post-test counseling), and assist in testing family members at risk.展开更多
Aim: There is increasing demand for individualized health advice. The aim of this study was to assess the effects on cardiovascular risk markers of receiving personal genetic health information, using apoE genotypes a...Aim: There is increasing demand for individualized health advice. The aim of this study was to assess the effects on cardiovascular risk markers of receiving personal genetic health information, using apoE genotypes as a tool for promoting lifestyle changes. ApoE was chosen because it had a significant impact on lipid metabolism and cholesterol absorption, all factors for CVD. Methods: This study was a one-year explanatory intervention study for healthy adults, aged between 20 - 67 years old (n = 106). Their clinical markers (serum lipids, blood glucose, blood pressure, Body Mass Index, body fat percentage and waist circumference) were measured three times during the intervention. The clinical effects were assessed for three groups: a high risk group (ε 4+, n = 16);a low-risk group (ε?4-, n = 35);and a control group (n = 55). Results: The triglyceride values and waist circumference lowered more in ε?4+ compared with the control group (p < 0.05;alpha value 0.005) during the intervention. Conclusion: The personal genetic information, based on apoE, may have positive effects on cardiovascular risk markers (e.g., improvement in triglyceride values). The individual health information, based on genotyping could be a potential option in the prevention of CVD. More research is required on how to utilize genotype-based health information in the prevention of lifestyle-related diseases.展开更多
RNA polymerases(RNAPs)are the enzymes responsible for transcribing genetic information from DNA into RNA.Gene transcription can be divided into three stages:initiation,elongation,and termination(Cramer et al.,2008;Roe...RNA polymerases(RNAPs)are the enzymes responsible for transcribing genetic information from DNA into RNA.Gene transcription can be divided into three stages:initiation,elongation,and termination(Cramer et al.,2008;Roeder,2019).Transcription initiation is the first and most-regulated stage.During gene transcription,RNAPs.展开更多
RNA editing is a posttranscriptional process that alters genetic information encoded in genomic DNA.While most known RNA editing occurs in organellar RNAs,adenosine-to-inosine(A-to-I)editing is one of the few types th...RNA editing is a posttranscriptional process that alters genetic information encoded in genomic DNA.While most known RNA editing occurs in organellar RNAs,adenosine-to-inosine(A-to-I)editing is one of the few types that modify nuclear-encoded mRNAs1,2.Since inosine is interpreted as guanosine(G)during translation,A-to-I editing can recode proteins,adding a regulatory layer beyond the central dogma.This raises a key question:What evolutionary advantage does RNA editing provide?Current hypotheses suggest that RNA editing allows regulated production of multiple protein isoforms from a single gene,helping resolve fitness trade-offs from pleiotropy or genetic conflict3,4.展开更多
All extant cellular organisms derive from a common ancestor,which can be illustrated by the universality of many pivotal metabolic traits,including the utilization of ATP as an energy currency and multiple mechanisms ...All extant cellular organisms derive from a common ancestor,which can be illustrated by the universality of many pivotal metabolic traits,including the utilization of ATP as an energy currency and multiple mechanisms processing the genetic information flow as demonstrated by the Central Dogma of biology(Theobald,2010;Hug et al.,2016).展开更多
Genome assembly is a fundamental step in decoding the genetic information of life.Its significance lies in constructing a complete DNA sequence map of organisms,providing the foundation for elucidating the mechanisms ...Genome assembly is a fundamental step in decoding the genetic information of life.Its significance lies in constructing a complete DNA sequence map of organisms,providing the foundation for elucidating the mechanisms of species evolution,exploring gene functions,and identifying disease-related variations.However,some of the repetitive DNA sequences remain“dark materials”in the genome as they are difficult to reveal by the second-generation sequencing approaches.In recent years,breakthroughs in third-generation sequencing technologies have significantly improved the accuracy and continuity of genome assemblies,therefore,being able to resolve the“last piece of the puzzle”in the genome.展开更多
Dear Editor,Transfer RNA(tRNA)is an indispensable adaptor molecule in the messenger RNA(mRNA)translation machinery,facilitating the conversion of genetic information encoded in mRNA into functional proteins.Numerous p...Dear Editor,Transfer RNA(tRNA)is an indispensable adaptor molecule in the messenger RNA(mRNA)translation machinery,facilitating the conversion of genetic information encoded in mRNA into functional proteins.Numerous posttranscriptional modifications in tRNA have been identified,which play significantroles in modulating tRNA folding,biochemical stability,amino-acylation,and codon–anticodon interaction(Suzuki,2021).TRMT10A,the mammalian homolog of Trm10,incorporates N1-methylguanosine modification at position 9(m^(1)G9)of various cytoplasmic tRNAs,including tRNAGln and tRNAIniMeth(Vilardo et al.,2020).Mutations in human TRMT10A,which is enriched in pancreatic islets and brain(Igoillo-Esteve et al.,2013),are often associated with microcephaly,intellectual disability,early-onset diabetes,and short stature(Igoillo-Esteve et al.,2013;Uçan Tokuçet al.,2024).展开更多
Human fetal germ cells(FGCs),referring to the embryonic precursors of oocytes and sperm,are crucial for the transmission of genetic and epigenetic information across generations.The finely orchestrated development of ...Human fetal germ cells(FGCs),referring to the embryonic precursors of oocytes and sperm,are crucial for the transmission of genetic and epigenetic information across generations.The finely orchestrated development of FGCs is of great importance for maintaining reproductive health.In the past several years,various omics techniques have been applied to human FGCs to reveal the global epigenetic reprogramming and transcriptional resetting processes during FGC development.Single-cell RNA sequencing(RNAseq)analysis of human FGCs unraveled the dynamic transcriptome,with simultaneous expression of both pluripotency genes and germline-specific genes(Guo et al.,2015;Li et al.,2017).展开更多
文摘The 'central dogma 'of molecular biology indicated that the direction of the genetic information flow is from DNA - RNA - protein. However, up to now, the central dogma has not obtained a sufficient theoretical support from cybernetics and information theory. In addition, some special cases in biology, such as, although the scrapie prion is irreversibly inactivated by alkali, five procedures with more specificity for modifying nucleic acids failed to cause inactivation and when a resting cell is activated by some factors and division occurs, protein synthesis has begun before DNA synthesis etc., are also very difficult to explain clearly by the central dogma. A broad outline of a mechanism for reverse translation can easily be 'designed', based on the normal translation process, and this serves both to prove that there is no fundamental theoretical reason for the central dogma, and to illustrate why the redundancy of genetic code is not a problem.This paper, based on some previous research work of authors, from the view of cybernetics, information theory and theoretical biology, explored the possibility of protein as a genetic information carrier, the probable pairing ways between ammo acids-codons, and the direction of genetic information flows etc., at theory, by comparing and analyzing theoretically the characteristics of information carriers existing in DNA and protein. The authors inferred that perhaps protein may join the informational transferring as a genetic information carrier; the direction of genetic information flows, besides the way described by the central dogma, seem also to have another type, that is, genetic information flowing from protein - DNA (RNA) - protein, which also includes the genetic information flow in the central dogma. Undoubtedly, the research on problems about the position and roles of protein during the genetic information transferring will have an important effect on the investigation and development of molecular biology, molecular genetics and gene engineering.
文摘A questionnaire research in ethics was conducted to get the view of students of medical universities in Shanghai on genomics and genetic discrimination. We find that 66% respondents indicated their willingness to understand the genetic information and 79% of respondents mind their own genetic information be aware of by other people. In contrast, 77% of the respondents believe that medical organization are not able to protect personal genetic information from disclose. Hence, it is significant to take some measures to preserve citizen's genetic information privacy. Depending on our results, we put forward our suggestion to this problem.
文摘In this paper it is analyzed from the informational perspective the relation between mind and body, an ancientphilosophic issue defined as a problem, which still did not receive up to date an adequate solution. Byintroducing/using the concept of information, it is shown that this concept includes two facets, one of themreferring to the common communications and another one referring to a hidden/structuring matter-relatedinformation, effectively acting in the human body and in the living systems, which determines the dynamicinter-change of information between specific structures of the organism by electric/electronic/chemical agents andgenetic/epigenetic processes. It is shown that the maintenance of body, permanently and obligatory depending onthe external matter (foods, air, water) resources, needed to provide both the structuring/restructuring basic materialand energy, determines the necessary existence of an info-managing system, administrating the internalmechano-chemical/physical processes. As a natural consequence, such a system should organize and assure ownsurvival by an effective informational operability to detect the external food resources, to select the appropriateinterest information and to decide as a function of circumstances. One important component in such aninformational system is memory, allowing to dispose of the reference informational data for analysis/comparisonand the selection between good and bad binary possible decisions. The memory receives and stores thereforesignals from external reality and from the body itself, referring to the emotional reaction, digestion status, creation,and inherited predilections, within specific info-neural communication circuits between the brain and bodyexecution/sensitive organs, the human body appearing as an integrated info-matter self-managed dynamic system.The specific body components memorize information with different degrees of info-integration: short/long-termintegration, emotive/action reaction, info-abilities, culminating with the integration in the chromosomal structuresby epigenetic processes. The new acquired information is transgenerationally transmissible, and is manifested asnew traits, showing the adaptation capability of the human and close relation between mind and body. Analyzingthe results of such a mind-body informational model in comparison with the earlier assumed/proposed/assertedarchaic, Greek and Occidental philosophies, which represent only partial aspects of this relation, it is shown thatthis informational model, elaborated in terms of information on the basis of scientific reasons and arguments,constitutes a general, realist, and coherent model of the mind-body relation, able to integrate and/or explain most ofthe others.
文摘The introduction of next-generation sequencing(NGS) technology in testing for hereditary cancer susceptibility allows testing of multiple cancer susceptibility genes simultaneously. While there are many potential benefits to utilizing this technology in the hereditary cancer clinic, including efficiency of time and cost, there are also important limitations that must be considered. The best panel for the given clinical situation should be selected to minimize the number of variants of unknown significance. The inclusion in panels of low penetrance or newly identified genes without specific actionability can be problematic for interpretation.Genetic counselors are an essential part of the hereditary cancer risk assessment team, helping the medical team select the most appropriate test and interpret the often complex results. Genetic counselors obtain an extended family history, counsel patients on the available tests and the potential implications of results for themselves and their family members(pre-test counseling), explain to patients the implications of the test results(post-test counseling), and assist in testing family members at risk.
文摘Aim: There is increasing demand for individualized health advice. The aim of this study was to assess the effects on cardiovascular risk markers of receiving personal genetic health information, using apoE genotypes as a tool for promoting lifestyle changes. ApoE was chosen because it had a significant impact on lipid metabolism and cholesterol absorption, all factors for CVD. Methods: This study was a one-year explanatory intervention study for healthy adults, aged between 20 - 67 years old (n = 106). Their clinical markers (serum lipids, blood glucose, blood pressure, Body Mass Index, body fat percentage and waist circumference) were measured three times during the intervention. The clinical effects were assessed for three groups: a high risk group (ε 4+, n = 16);a low-risk group (ε?4-, n = 35);and a control group (n = 55). Results: The triglyceride values and waist circumference lowered more in ε?4+ compared with the control group (p < 0.05;alpha value 0.005) during the intervention. Conclusion: The personal genetic information, based on apoE, may have positive effects on cardiovascular risk markers (e.g., improvement in triglyceride values). The individual health information, based on genotyping could be a potential option in the prevention of CVD. More research is required on how to utilize genotype-based health information in the prevention of lifestyle-related diseases.
文摘RNA polymerases(RNAPs)are the enzymes responsible for transcribing genetic information from DNA into RNA.Gene transcription can be divided into three stages:initiation,elongation,and termination(Cramer et al.,2008;Roeder,2019).Transcription initiation is the first and most-regulated stage.During gene transcription,RNAPs.
基金supported by the grants from the National Key R&D Program of China(2022YFA1304400)the National Natural Science Foundation of China(32472521).
文摘RNA editing is a posttranscriptional process that alters genetic information encoded in genomic DNA.While most known RNA editing occurs in organellar RNAs,adenosine-to-inosine(A-to-I)editing is one of the few types that modify nuclear-encoded mRNAs1,2.Since inosine is interpreted as guanosine(G)during translation,A-to-I editing can recode proteins,adding a regulatory layer beyond the central dogma.This raises a key question:What evolutionary advantage does RNA editing provide?Current hypotheses suggest that RNA editing allows regulated production of multiple protein isoforms from a single gene,helping resolve fitness trade-offs from pleiotropy or genetic conflict3,4.
基金supported by the National Natural Science Foundation of China(Grant Nos.92351301,32393974)the Science and Technology Innovation Committee of Shenzhen Municipality(Grant No.20200925173954005)。
文摘All extant cellular organisms derive from a common ancestor,which can be illustrated by the universality of many pivotal metabolic traits,including the utilization of ATP as an energy currency and multiple mechanisms processing the genetic information flow as demonstrated by the Central Dogma of biology(Theobald,2010;Hug et al.,2016).
基金supported by the National Natural Science Foundation of China(32090034)Zhejiang Provincial Natural Science Foundation of China(2022XHSJJ001)+3 种基金Hangzhou City Leading Innovation and Entrepreneurship Team(TD2020004)“Pioneer”and“Leading Goose”Research and Development Program of Zhejiang(2024SSYS0033)Westlake Education FoundationWestlake Laboratory of Life Sciences and Biomedicine.
文摘Genome assembly is a fundamental step in decoding the genetic information of life.Its significance lies in constructing a complete DNA sequence map of organisms,providing the foundation for elucidating the mechanisms of species evolution,exploring gene functions,and identifying disease-related variations.However,some of the repetitive DNA sequences remain“dark materials”in the genome as they are difficult to reveal by the second-generation sequencing approaches.In recent years,breakthroughs in third-generation sequencing technologies have significantly improved the accuracy and continuity of genome assemblies,therefore,being able to resolve the“last piece of the puzzle”in the genome.
基金Supplementary material is available at Journal of Molecular Cell Biology online.This study was supported by grants from the National Natural Science Foundation of China(82230075 to D.G.32270159 to J.W.)+2 种基金Guangdong Basic and Applied Basic Research Foundation(2023A1515012613 to J.W.)Shenzhen Science and Technology Program(JCYJ20200109142201695 and KQTD20180411143323605 to D.G.,JCYJ20220530145608018 to J.W.)Shenzhen Key Laboratory of Systems Medicine for Inflammatory Diseases(ZDSYS20220606100803007 to J.W.).
文摘Dear Editor,Transfer RNA(tRNA)is an indispensable adaptor molecule in the messenger RNA(mRNA)translation machinery,facilitating the conversion of genetic information encoded in mRNA into functional proteins.Numerous posttranscriptional modifications in tRNA have been identified,which play significantroles in modulating tRNA folding,biochemical stability,amino-acylation,and codon–anticodon interaction(Suzuki,2021).TRMT10A,the mammalian homolog of Trm10,incorporates N1-methylguanosine modification at position 9(m^(1)G9)of various cytoplasmic tRNAs,including tRNAGln and tRNAIniMeth(Vilardo et al.,2020).Mutations in human TRMT10A,which is enriched in pancreatic islets and brain(Igoillo-Esteve et al.,2013),are often associated with microcephaly,intellectual disability,early-onset diabetes,and short stature(Igoillo-Esteve et al.,2013;Uçan Tokuçet al.,2024).
基金supported by the National Natural Science Foundation of China(32288101,32200485,32270658)National Key R&D Program of China(2022YFC2703800)Shanghai Hospital Development Center Foundation(SHDC12023121).
文摘Human fetal germ cells(FGCs),referring to the embryonic precursors of oocytes and sperm,are crucial for the transmission of genetic and epigenetic information across generations.The finely orchestrated development of FGCs is of great importance for maintaining reproductive health.In the past several years,various omics techniques have been applied to human FGCs to reveal the global epigenetic reprogramming and transcriptional resetting processes during FGC development.Single-cell RNA sequencing(RNAseq)analysis of human FGCs unraveled the dynamic transcriptome,with simultaneous expression of both pluripotency genes and germline-specific genes(Guo et al.,2015;Li et al.,2017).
