Repair of Site-Specific DNA Double-Strand Breaks in
... 1999), as postulated for yeast (Saccharomyces cerevisiae), has not yet been proven for higher eukaryotes (Schubert et al., 2011). Genetic transformation represents an outcome of erroneous DSB repair. Gene targeting (GT) on the basis of sequence homology between the transgene and the target locus is ...
... 1999), as postulated for yeast (Saccharomyces cerevisiae), has not yet been proven for higher eukaryotes (Schubert et al., 2011). Genetic transformation represents an outcome of erroneous DSB repair. Gene targeting (GT) on the basis of sequence homology between the transgene and the target locus is ...
Fruit Fly Dihybrid Cross (EXERCISE)
... laws state that when organisms are crossed and offspring are produced, the offspring receive one gene from each parent for a particular trait and all traits are inherited independently of one another (modern genetics has found that in some cases genes are linked). Mendel saw these laws at work in hi ...
... laws state that when organisms are crossed and offspring are produced, the offspring receive one gene from each parent for a particular trait and all traits are inherited independently of one another (modern genetics has found that in some cases genes are linked). Mendel saw these laws at work in hi ...
animal genetics
... independently. However, advances in genetics have shown that an abnormal situation, called crossing-over, can occur between genes for different traits. ...
... independently. However, advances in genetics have shown that an abnormal situation, called crossing-over, can occur between genes for different traits. ...
Power Point
... independently. However, advances in genetics have shown that an abnormal situation, called crossing-over, can occur between genes for different traits. ...
... independently. However, advances in genetics have shown that an abnormal situation, called crossing-over, can occur between genes for different traits. ...
Mutations in FUS, an RNA Processing Protein, Cause Familial
... (tables S1 and S2). After our detection of mutations in TARDBP, we prioritized six genes containing similar domains within the linked region. A single base-pair change was identified in exon 15 of FUS (also known as translocation in liposarcoma or TLS) in the proband from the F1 kindred (fig. S2A). ...
... (tables S1 and S2). After our detection of mutations in TARDBP, we prioritized six genes containing similar domains within the linked region. A single base-pair change was identified in exon 15 of FUS (also known as translocation in liposarcoma or TLS) in the proband from the F1 kindred (fig. S2A). ...
Engineered Cpf1 Enzymes with Altered PAM Specificities
... locations, the requirement of a TTTV PAM may limit the availability of suitable target sites, reducing the practical utility of Cpf1. To address this limitation, we aimed to engineer variants of Cpf1 that can recognize alternative PAM sequences in order to increase its targeting range. Previous work ...
... locations, the requirement of a TTTV PAM may limit the availability of suitable target sites, reducing the practical utility of Cpf1. To address this limitation, we aimed to engineer variants of Cpf1 that can recognize alternative PAM sequences in order to increase its targeting range. Previous work ...
Solid Tumour Section Liver: Intrahepatic cholangiocarcinoma Atlas of Genetics and Cytogenetics
... cholangiocarcinoma are primarily governed by its anatomical location and growth pattern. Biliary obstructive symptoms are rare. Generally, early stages of intrahepatic cholangiocarcinoma do not produce specific clinical symptoms that are recognized by affected persons, and there is no specific or pr ...
... cholangiocarcinoma are primarily governed by its anatomical location and growth pattern. Biliary obstructive symptoms are rare. Generally, early stages of intrahepatic cholangiocarcinoma do not produce specific clinical symptoms that are recognized by affected persons, and there is no specific or pr ...
Non-invasive prenatal assessment of trisomy 21 by multiplexed
... The advantages and disadvantages of these approaches have been reviewed in detail.20 An alternative approach for non-invasive prenatal diagnosis of fetal trisomy 21 is to show the presence of an elevated amount of chromosome 21 sequences in maternal blood, because there are three rather than two cop ...
... The advantages and disadvantages of these approaches have been reviewed in detail.20 An alternative approach for non-invasive prenatal diagnosis of fetal trisomy 21 is to show the presence of an elevated amount of chromosome 21 sequences in maternal blood, because there are three rather than two cop ...
Explaining the Likelihood Ratio in DNA Mixture
... evidence in favor of or against a particular hypothesis (or proposition) (1). The LR is also the match statistic that is used in DNA reporting (2-4). The LR's good legal and scientific standing underlies forensic science's credibility in court. Importantly, the LR quantifies how our belief in a hypo ...
... evidence in favor of or against a particular hypothesis (or proposition) (1). The LR is also the match statistic that is used in DNA reporting (2-4). The LR's good legal and scientific standing underlies forensic science's credibility in court. Importantly, the LR quantifies how our belief in a hypo ...
Explaining the Likelihood Ratio in DNA Mixture Interpretation
... evidence in favor of or against a particular hypothesis (or proposition) (1). The LR is also the match statistic that is used in DNA reporting (2-4). The LR's good legal and scientific standing underlies forensic science's credibility in court. Importantly, the LR quantifies how our belief in a hypo ...
... evidence in favor of or against a particular hypothesis (or proposition) (1). The LR is also the match statistic that is used in DNA reporting (2-4). The LR's good legal and scientific standing underlies forensic science's credibility in court. Importantly, the LR quantifies how our belief in a hypo ...
Preneoplastic lesions of the lung
... CIS, as well as in AAH. In this respect, DIP/NECH has not been studied. The changes might be sequential, and their frequency and number seem to increase with atypia in both the metaplasia-dysplasia-CIS sequence and the AAH-adenocarcinoma sequence. These changes can be seen both as proof of the prene ...
... CIS, as well as in AAH. In this respect, DIP/NECH has not been studied. The changes might be sequential, and their frequency and number seem to increase with atypia in both the metaplasia-dysplasia-CIS sequence and the AAH-adenocarcinoma sequence. These changes can be seen both as proof of the prene ...
Rates of Spontaneous Mutation
... tions are likely to be extinguished when their mutation rates are increased to a few-fold over 1. To be similarly jeopardized, the microbes in Table 4 would have to experience mutation-rate increases on the order of 103fold. However, they are to some extent buffered against immediate extinction in t ...
... tions are likely to be extinguished when their mutation rates are increased to a few-fold over 1. To be similarly jeopardized, the microbes in Table 4 would have to experience mutation-rate increases on the order of 103fold. However, they are to some extent buffered against immediate extinction in t ...
Introduction - bei DuEPublico
... 6) capacity to invade tissue and grow at metastatic sites The number of mutations required to gain these abilities varies. For example, in some cells mutation of the TP53 gene facilitates both cell proliferation and evasion of apoptosis whereas in other cancers, several mutations additional to tumou ...
... 6) capacity to invade tissue and grow at metastatic sites The number of mutations required to gain these abilities varies. For example, in some cells mutation of the TP53 gene facilitates both cell proliferation and evasion of apoptosis whereas in other cancers, several mutations additional to tumou ...
Clamp loader structure predicts the architecture of DNA polymerase
... in the absence of ATP [13]. ATP binding to γ may separate δ′ from δ, allowing δ to bind β and open the ring. How do the above observations fit with the γ complex structure? The β interactive element site on the δ subunit is contained within the amino-terminal domain (see Figure 3a). The β interactiv ...
... in the absence of ATP [13]. ATP binding to γ may separate δ′ from δ, allowing δ to bind β and open the ring. How do the above observations fit with the γ complex structure? The β interactive element site on the δ subunit is contained within the amino-terminal domain (see Figure 3a). The β interactiv ...
Families of SMA - Children with Spinal Muscular Atrophy
... Because each cell contains two of each kind of chromosome, each cell contains two copies of all the human genes, except the genes on the X and Y chromosomes in males There are ~25,000 human genes ...
... Because each cell contains two of each kind of chromosome, each cell contains two copies of all the human genes, except the genes on the X and Y chromosomes in males There are ~25,000 human genes ...
Genetic dissection of Helicobacter pylori AddAB role in homologous
... of the damage, they could partially complement each other. Unlike what was shown for E. coli (Lloyd et al., 1988), the inactivation of RecOR in H. pylori has a more dramatic effect on UV survival than the inactivation of AddAB (RecBCD in E. coli). A different picture emerges from the analysis of the ...
... of the damage, they could partially complement each other. Unlike what was shown for E. coli (Lloyd et al., 1988), the inactivation of RecOR in H. pylori has a more dramatic effect on UV survival than the inactivation of AddAB (RecBCD in E. coli). A different picture emerges from the analysis of the ...
Educational Items Section Chromosomal Disorders - Karyotype Indications in Oncology and Haematology
... - trisomy 21: 1,5/1000; other unbalanced autosomal disorders: 0,5/ 1000; - balanced chromosomal disorders with a normal phenotype 2/1000 - among 1000 known pregnancies 150 will abort spontaneously: among them 100 have an abnormal chromosomal complement: 20 Turner syndrome, 20 trisomies 16 and 20 tri ...
... - trisomy 21: 1,5/1000; other unbalanced autosomal disorders: 0,5/ 1000; - balanced chromosomal disorders with a normal phenotype 2/1000 - among 1000 known pregnancies 150 will abort spontaneously: among them 100 have an abnormal chromosomal complement: 20 Turner syndrome, 20 trisomies 16 and 20 tri ...
Unbalanced translocation, a major chromosome alteration
... chromosomal segregation at mitosis and also through genetic alterations that change chromosomal structures of the cell (Lasko et al., 1991; Weinberg, 2007). In fact, whole, terminal and interstitial chromosome deletions were shown to cause LOH on several chromosomal loci in human cancers (Naylor et ...
... chromosomal segregation at mitosis and also through genetic alterations that change chromosomal structures of the cell (Lasko et al., 1991; Weinberg, 2007). In fact, whole, terminal and interstitial chromosome deletions were shown to cause LOH on several chromosomal loci in human cancers (Naylor et ...
View - OhioLINK Electronic Theses and Dissertations Center
... 1.5 Drosophila melanogaster as a model organism The fruit fly, Drosophila melanogaster, has been used in basic biological studies for over 100 years, serving as an excellent model for many cellular processes and human diseases (Roote and Prokop, 2013). Drosophila has a short generation time of ten ...
... 1.5 Drosophila melanogaster as a model organism The fruit fly, Drosophila melanogaster, has been used in basic biological studies for over 100 years, serving as an excellent model for many cellular processes and human diseases (Roote and Prokop, 2013). Drosophila has a short generation time of ten ...
Genetic loads under fitness
... but it is closely approximated within several hundred generations. Therefore, each simulation was run for at least 300 generations or until the change in mean fitness between generations was less than 10)4, whichever took longer. In several cases, computer simulations were also run from an initial s ...
... but it is closely approximated within several hundred generations. Therefore, each simulation was run for at least 300 generations or until the change in mean fitness between generations was less than 10)4, whichever took longer. In several cases, computer simulations were also run from an initial s ...
Mechanistic Comparison of High-Fidelity and Error
... extensive studies in ours and other laboratories (see the review by Wilson1 in this issue) have revealed this enzyme to display moderately high fidelity, a consensus has not yet been reached regarding the mechanism by which this is accomplished. Drawing on both structural data and kinetic analyses, ...
... extensive studies in ours and other laboratories (see the review by Wilson1 in this issue) have revealed this enzyme to display moderately high fidelity, a consensus has not yet been reached regarding the mechanism by which this is accomplished. Drawing on both structural data and kinetic analyses, ...
Chromosomal Basis of Inheritance Final
... Each gene has a specific location on the chromosome. In humans, males have one X and one Y chromosome, and females have two X chromosomes. A specific gene on the Y chromosome is required for human embryos to develop as males. Unless they are located far from each other, genes on the same chromosome ...
... Each gene has a specific location on the chromosome. In humans, males have one X and one Y chromosome, and females have two X chromosomes. A specific gene on the Y chromosome is required for human embryos to develop as males. Unless they are located far from each other, genes on the same chromosome ...
The msh2 Gene of Schizosaccharomyces pombe Is
... determined by using plasmid pRU21 and synthesized oligonucleotides. Sequencing reactions on both DNA strands of msh21 were performed by the dideoxychain termination method, using a sequencing kit (United States Biochemical Sequenase kit). For sequencing the swi8-137 mutation, PCR was performed on ge ...
... determined by using plasmid pRU21 and synthesized oligonucleotides. Sequencing reactions on both DNA strands of msh21 were performed by the dideoxychain termination method, using a sequencing kit (United States Biochemical Sequenase kit). For sequencing the swi8-137 mutation, PCR was performed on ge ...
Evidence for Variable Selective Pressures at a
... Leeds, United Kingdom; §Medical Faculty, University of Porto, Porto, Portugal; and kVirginia Bioinformatics Institute, Virginia Polytechnic Institute and State University A combined effect of functional constraints and random mutational events is responsible for the sequence evolution of the human m ...
... Leeds, United Kingdom; §Medical Faculty, University of Porto, Porto, Portugal; and kVirginia Bioinformatics Institute, Virginia Polytechnic Institute and State University A combined effect of functional constraints and random mutational events is responsible for the sequence evolution of the human m ...
AnsteadSeniorHonorsThesis
... enhancer/suppressor screen for Mcm10 mutants in Drosophila melanogaster. A genetic screen will be useful in further studies on Mcm10, allowing the mutation to be more prominent. It will also shed light on possible non-essential processes Mcm10 may have a role in. A genetic enhancer screen identifie ...
... enhancer/suppressor screen for Mcm10 mutants in Drosophila melanogaster. A genetic screen will be useful in further studies on Mcm10, allowing the mutation to be more prominent. It will also shed light on possible non-essential processes Mcm10 may have a role in. A genetic enhancer screen identifie ...
Mutagen
In genetics, a mutagen is a physical or chemical agent that changes the genetic material, usually DNA, of an organism and thus increases the frequency of mutations above the natural background level. As many mutations can cause cancer, mutagens are therefore also likely to be carcinogens. Not all mutations are caused by mutagens: so-called ""spontaneous mutations"" occur due to spontaneous hydrolysis, errors in DNA replication, repair and recombination.