Bone Marrow Failure
... are all features associated with dyskeratosis congenita. To date, all the genes associated with dyskeratosis congenita involve either components of telomerase or affect telomere length through the shelterin complex. The familial pattern here suggests an autosomal-dominant pattern, while Fanconi anem ...
... are all features associated with dyskeratosis congenita. To date, all the genes associated with dyskeratosis congenita involve either components of telomerase or affect telomere length through the shelterin complex. The familial pattern here suggests an autosomal-dominant pattern, while Fanconi anem ...
Charge Transport in DNA - Insights from
... based on thermodynamic observations.[26] Since then, reports have been constantly appearing against,[27] as well as in favor of the thermally induced melting.[28] Importantly, the nature of the overstretched state of DNA probably depends on the rate of stretching. A dsDNA oligomer was reported to de ...
... based on thermodynamic observations.[26] Since then, reports have been constantly appearing against,[27] as well as in favor of the thermally induced melting.[28] Importantly, the nature of the overstretched state of DNA probably depends on the rate of stretching. A dsDNA oligomer was reported to de ...
Atlas of Genetics and Cytogenetics in Oncology and Haematology Scope
... (infections, haemorrhages), leukaemia, or solid cancer. It has recently been shown that significant phenotypic differences were found between the various complementation groups. In FA group A, patients homozygous for null mutations had an earlier onset of anemia and a higher incidence of leukemia th ...
... (infections, haemorrhages), leukaemia, or solid cancer. It has recently been shown that significant phenotypic differences were found between the various complementation groups. In FA group A, patients homozygous for null mutations had an earlier onset of anemia and a higher incidence of leukemia th ...
14 Chromosomes
... to distinguish it from the other human chromosomes. Another representation of human chromosomes is called an ideogram. Ideograms are schematic representations of chromosomes that show their relative sizes and the distinctive banding pattern of each chromosome (see figure 14.9). These banding pattern ...
... to distinguish it from the other human chromosomes. Another representation of human chromosomes is called an ideogram. Ideograms are schematic representations of chromosomes that show their relative sizes and the distinctive banding pattern of each chromosome (see figure 14.9). These banding pattern ...
Synapsis-Mediated Fusion of Free DNA Ends Forms Inverted Dimer Plasmids in Yeast.
... plasmid DNA mixture in closed circular form, single selection for Leu+ transformants (and also for Ura+ transformants, not shown) reveals a first order concentrationdependence, while double selection for Ura+ Leu+ transformants results in a second order dependence. These outcomes are expectedon the ...
... plasmid DNA mixture in closed circular form, single selection for Leu+ transformants (and also for Ura+ transformants, not shown) reveals a first order concentrationdependence, while double selection for Ura+ Leu+ transformants results in a second order dependence. These outcomes are expectedon the ...
Collaborative coupling between polymerase and helicase for
... holoenzyme (Figure 1B). We have studied the activity of four holoenzymes including the wild-type T4 holoenzyme (gp43 polymerase and gp45 trimeric clamp) from polymerase family B; a mutant T4 holoenzyme (gp43exo polymerase and gp45 trimeric clamp), which lacks the exonuclease activity; the wild-type ...
... holoenzyme (Figure 1B). We have studied the activity of four holoenzymes including the wild-type T4 holoenzyme (gp43 polymerase and gp45 trimeric clamp) from polymerase family B; a mutant T4 holoenzyme (gp43exo polymerase and gp45 trimeric clamp), which lacks the exonuclease activity; the wild-type ...
Cystic fibrosis and infertility caused by congenital
... including the AF508 mutation, result in the production of a protein that fails to traffic to the correct cellular location, the apical membrane. The mechanism for this failure is unknown, but it has been suggested that these mutations prevent CFTR from adopting its correct conformation, necessary fo ...
... including the AF508 mutation, result in the production of a protein that fails to traffic to the correct cellular location, the apical membrane. The mechanism for this failure is unknown, but it has been suggested that these mutations prevent CFTR from adopting its correct conformation, necessary fo ...
Control of Lysogenization by Phage P22. II. Mutations (clyA) in the c1 Gene that Cause Increased Lysogenization
... FIG:. I. Fine structure map of the P22 cl gene. All mutations were mapped by 4-factor reciprocal crosses (see text). The genes O-O, cl and 1X are expressed rightward from the p, promoter, as are the genes I;! and 24 (not shown, see Susskind AZBotstein. 1978). The r2 gene is normally expressed leftwa ...
... FIG:. I. Fine structure map of the P22 cl gene. All mutations were mapped by 4-factor reciprocal crosses (see text). The genes O-O, cl and 1X are expressed rightward from the p, promoter, as are the genes I;! and 24 (not shown, see Susskind AZBotstein. 1978). The r2 gene is normally expressed leftwa ...
Chapter 29 Slides
... Immunoglobulin Genes • Immunoglobulin genes maximize protein diversity with a limited amount of genetic information • DNA rearrangement (genetic recombination) during assembly of IG genes accounts for this diversity • Three separate genes are combined to form the L-chain gene • Four genes combine to ...
... Immunoglobulin Genes • Immunoglobulin genes maximize protein diversity with a limited amount of genetic information • DNA rearrangement (genetic recombination) during assembly of IG genes accounts for this diversity • Three separate genes are combined to form the L-chain gene • Four genes combine to ...
Trichothiodystrophy: Update on the sulfur
... of the XPD gene. Rarely, mutated XPB gene or an unidentified TTD-A gene may result in TTD. In UVsensitive TTD, the TFIIH transcription factor containing XPB and XPD helicase activities necessary for both transcription initiation and DNA repair is damaged. Beyond deficiency in the NER pathway, it is ...
... of the XPD gene. Rarely, mutated XPB gene or an unidentified TTD-A gene may result in TTD. In UVsensitive TTD, the TFIIH transcription factor containing XPB and XPD helicase activities necessary for both transcription initiation and DNA repair is damaged. Beyond deficiency in the NER pathway, it is ...
Bottleneck Effect on Genetic Variance: A Theoretical
... what extent the observed results can be accounted for by dominance alone. We will also investigate the proportional contributions of different genes with different classes of additive and dominance effect to the observed increase in genetic variance following bottlenecks. Since most empirical inform ...
... what extent the observed results can be accounted for by dominance alone. We will also investigate the proportional contributions of different genes with different classes of additive and dominance effect to the observed increase in genetic variance following bottlenecks. Since most empirical inform ...
Recombinant DNA technology and molecular cloning
... living cells. When these two DNAs of different origin are combined, the result is a recombinant DNA molecule. Although genetic processes such as crossing-over technically produce recombinant DNA, the term is generally reserved for DNA molecules produced by joining segments derived from different bio ...
... living cells. When these two DNAs of different origin are combined, the result is a recombinant DNA molecule. Although genetic processes such as crossing-over technically produce recombinant DNA, the term is generally reserved for DNA molecules produced by joining segments derived from different bio ...
Gene Section USP1 (ubiquitin specific peptidase 1) Atlas of Genetics and Cytogenetics
... substrate ID2. This observation is consistent with the finding that USP1 deubiquitinates and stabilizes ID proteins, contributing to preserve the undifferentiated state of osteosarcoma cells. ...
... substrate ID2. This observation is consistent with the finding that USP1 deubiquitinates and stabilizes ID proteins, contributing to preserve the undifferentiated state of osteosarcoma cells. ...
Crystal structures of -[Ru(phen)2dppz]2+ 1 with oligonucleotides
... This self-complementary sequence crystallizes to give a symmetrical duplex with a stoichiometry of three cations of 1 per duplex, or 1.5 cations of 1 per decamer strand. All the nucleic acid strands are equivalent in the crystal lattice, with the packing shown in Figure 1a. The conformation of a sin ...
... This self-complementary sequence crystallizes to give a symmetrical duplex with a stoichiometry of three cations of 1 per duplex, or 1.5 cations of 1 per decamer strand. All the nucleic acid strands are equivalent in the crystal lattice, with the packing shown in Figure 1a. The conformation of a sin ...
Sporadic Hypertrophic Cardiomyopathy Due to De Novo Myosin
... an autosomal dominant trait (5, 11-14). Thus, individuals with familial hypertrophic cardiomyopathy frequently have multiple affected relatives, and must have one affected parent. Sporadic occurrence of hypertrophic cardiomyopathy is defined by similar anatomical and clinical features in an individu ...
... an autosomal dominant trait (5, 11-14). Thus, individuals with familial hypertrophic cardiomyopathy frequently have multiple affected relatives, and must have one affected parent. Sporadic occurrence of hypertrophic cardiomyopathy is defined by similar anatomical and clinical features in an individu ...
View/Open
... time, their inversion structure prevents the formation of new complexes. Supergenes, therefore, have evolutionary advantages and disadvantages. Chapter 21 discusses these evolutionary topics in more detail. Sometimes the inversion process produces a record of the evolutionary history of a group of s ...
... time, their inversion structure prevents the formation of new complexes. Supergenes, therefore, have evolutionary advantages and disadvantages. Chapter 21 discusses these evolutionary topics in more detail. Sometimes the inversion process produces a record of the evolutionary history of a group of s ...
DNA breathing dynamics distinguish binding from nonbinding
... based on our extended Peyrard–Bishop–Dauxois model (EPBD) related Langevin molecular dynamics (LMDs) simulations (6,9) of the local DNA breathing dynamics of YY1 binding sites, together with genomic site-specific chromatin immunoprecipitation (ssChIP) and gel shift experimental tests of these predict ...
... based on our extended Peyrard–Bishop–Dauxois model (EPBD) related Langevin molecular dynamics (LMDs) simulations (6,9) of the local DNA breathing dynamics of YY1 binding sites, together with genomic site-specific chromatin immunoprecipitation (ssChIP) and gel shift experimental tests of these predict ...
Down syndrome: characterisation of a case with partial trisomy of
... features of DS map to 21q21.3, as suggested by Korenberg et al,5 but also 21q22. One of the difficulties in the construction of a phenotypic map, based on cases of partial trisomy, is that a large proportion of these cases have in addition other chromosomal abnormalities, which may also contribute t ...
... features of DS map to 21q21.3, as suggested by Korenberg et al,5 but also 21q22. One of the difficulties in the construction of a phenotypic map, based on cases of partial trisomy, is that a large proportion of these cases have in addition other chromosomal abnormalities, which may also contribute t ...
Equilibrium Statistics of Channel-confined DNA
... (a polymer) that is confined to a channel which is much narrower than the size of the molecule. The primary motivation is recent experiments where DNA molecules are inserted into channels with a width of about 100 nm. The research in this thesis attempts to explain the observations of these experime ...
... (a polymer) that is confined to a channel which is much narrower than the size of the molecule. The primary motivation is recent experiments where DNA molecules are inserted into channels with a width of about 100 nm. The research in this thesis attempts to explain the observations of these experime ...
Meiosis - Myersbiology
... by parasites (AIDS, syphillis, etc.) • Genetic costs: in sex, we pass on only half of genes to offspring. • Males are an expensive luxury - in most species they contribute little to rearing offspring. ...
... by parasites (AIDS, syphillis, etc.) • Genetic costs: in sex, we pass on only half of genes to offspring. • Males are an expensive luxury - in most species they contribute little to rearing offspring. ...
x-linked female-sterile loci in drosophzla melanogaster
... per locus from the two independent screens are similar (Figure 1). Using the data from these mutagenesis screens, the number of loci on the X chromosome has been estimated to be about 100 (KING and MOHLER 1975) (however, see DISCUSSION for a modification of this estimate). If this estimate reflects ...
... per locus from the two independent screens are similar (Figure 1). Using the data from these mutagenesis screens, the number of loci on the X chromosome has been estimated to be about 100 (KING and MOHLER 1975) (however, see DISCUSSION for a modification of this estimate). If this estimate reflects ...
7nQ Jj I f NO "7^07 - UNT Digital Library
... technology, population genetics, and much more. The text is very well written and easy to understand. It offers a detailed look at all the components of genetics. It contains study questions as well as summaries for each chapter to provide an even better way to retain the knowledge from my lectures ...
... technology, population genetics, and much more. The text is very well written and easy to understand. It offers a detailed look at all the components of genetics. It contains study questions as well as summaries for each chapter to provide an even better way to retain the knowledge from my lectures ...
Differentiated thyroid cancer: growth factors, oncogenes
... Germany and Italy of 5% to 8% (7). This is also true for mortality due to thyroid cancer, which ranges between 4 to 8 cases/100.000 inhabitants (8). The distribution of thyroid histology in thyroid cancer is iodine dependent: 70%-85% papillary thyroid cancer, 12%-18% follicular and 1%-3% anaplastic ...
... Germany and Italy of 5% to 8% (7). This is also true for mortality due to thyroid cancer, which ranges between 4 to 8 cases/100.000 inhabitants (8). The distribution of thyroid histology in thyroid cancer is iodine dependent: 70%-85% papillary thyroid cancer, 12%-18% follicular and 1%-3% anaplastic ...
(F193L) in the KCNQ1 gene associated with long
... degree of IKs dysfunction caused by many KCNQ1 gene mutations does not always correlate with that of QT prolongation or of other cardiac symptoms. In addition, the autosomal recessive LQTS (JLNS) in allelic diseases results from mutations in the KCNQ1 and KCNE1 genes. A significant proportion of pat ...
... degree of IKs dysfunction caused by many KCNQ1 gene mutations does not always correlate with that of QT prolongation or of other cardiac symptoms. In addition, the autosomal recessive LQTS (JLNS) in allelic diseases results from mutations in the KCNQ1 and KCNE1 genes. A significant proportion of pat ...
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.