
Gill: Human Disease Genomics
... • There are 8,000 known rare Mendelian diseases • Each can cause over a dozen different phenotypes of 10,000 known disease phenotypes • Together rare Mendelian diseases affect 1 in 33 babies • There are over 20,000 genes in the human genome • Sequencing all genes is cheap, and getting cheaper • We n ...
... • There are 8,000 known rare Mendelian diseases • Each can cause over a dozen different phenotypes of 10,000 known disease phenotypes • Together rare Mendelian diseases affect 1 in 33 babies • There are over 20,000 genes in the human genome • Sequencing all genes is cheap, and getting cheaper • We n ...
Coupling of zygotic transcription to mitotic control at the Drosophila
... divisions, reduction of the DNA content by half in haploid embryos results in an extra cell cycle, with a corresponding delay of the MBT (Edgar et al., 1986). These observations have led to a model in which the exponential increase in DNA content during cleavage stages results in the titration and i ...
... divisions, reduction of the DNA content by half in haploid embryos results in an extra cell cycle, with a corresponding delay of the MBT (Edgar et al., 1986). These observations have led to a model in which the exponential increase in DNA content during cleavage stages results in the titration and i ...
Causes, consequences and solutions of
... Phylogenetic analysis is used to recover the evolutionary history of species, genes or proteins. Understanding phylogenetic relationships between organisms is a prerequisite of almost any evolutionary study, as contemporary species all share a common history through their ancestry. Moreover, it is i ...
... Phylogenetic analysis is used to recover the evolutionary history of species, genes or proteins. Understanding phylogenetic relationships between organisms is a prerequisite of almost any evolutionary study, as contemporary species all share a common history through their ancestry. Moreover, it is i ...
Mathematical Modeling: Hardy-Weinberg
... physician W. Weinberg, both suggested that gene frequencies were not dependent upon dominance or recessiveness but may remain unchanged from one generation to the next under a set of “idealized conditions.” These classic papers describe an equation which has come to be called the Hardy-Weinberg theo ...
... physician W. Weinberg, both suggested that gene frequencies were not dependent upon dominance or recessiveness but may remain unchanged from one generation to the next under a set of “idealized conditions.” These classic papers describe an equation which has come to be called the Hardy-Weinberg theo ...
paper
... await the results of future research. It is clear, even though the magnitude is in doubt, that the base substitution rate is much higher in males than in females and that the difference increases with paternal (or grandpaternal) age. This supports the view that base substitutions are associated with ...
... await the results of future research. It is clear, even though the magnitude is in doubt, that the base substitution rate is much higher in males than in females and that the difference increases with paternal (or grandpaternal) age. This supports the view that base substitutions are associated with ...
Supplemental Information
... uninduced P8.px cells and the anus in siblings. In contrast to the absence of a strict correlation between distance of the P8.px cells to the anus and the ectopic induction of vulval fates, all three of these ceh-10 mutants (animals 79, 74, 45) had severely foreshortened posterior CAN axons, with th ...
... uninduced P8.px cells and the anus in siblings. In contrast to the absence of a strict correlation between distance of the P8.px cells to the anus and the ectopic induction of vulval fates, all three of these ceh-10 mutants (animals 79, 74, 45) had severely foreshortened posterior CAN axons, with th ...
Identification of a novel duplication in the APC gene using multiple
... (V, Q and G) at the COOH end. The predicted protein should retain the N-terminus coil-coiled region, containing the oligomerization domain (amino acids 6e57) and two out of five nuclear export signals (NESs; amino acids 68e77 and 165e174) to shuttle the b-catenin-APC complex between nucleus and cyto ...
... (V, Q and G) at the COOH end. The predicted protein should retain the N-terminus coil-coiled region, containing the oligomerization domain (amino acids 6e57) and two out of five nuclear export signals (NESs; amino acids 68e77 and 165e174) to shuttle the b-catenin-APC complex between nucleus and cyto ...
GO2PUB - GenOuest
... annotations link genes products to the metabolic pathways in which these are involved. Genes annotated by a GO term concerning a pathway that interest us can be used as keywords for a PubMed query. Following the GO true path rule, it allows to query PubMed with many genes names from only a few numbe ...
... annotations link genes products to the metabolic pathways in which these are involved. Genes annotated by a GO term concerning a pathway that interest us can be used as keywords for a PubMed query. Following the GO true path rule, it allows to query PubMed with many genes names from only a few numbe ...
genetics_book
... 1. Why do living things need to reproduce and pass on their DNA? 2. Why do organisms that have Asexual Reproduction only need one parent? 3. What does each parent provide in Sexual Reproduction? ...
... 1. Why do living things need to reproduce and pass on their DNA? 2. Why do organisms that have Asexual Reproduction only need one parent? 3. What does each parent provide in Sexual Reproduction? ...
INHERITANCE GENES AND
... It is well known to historians that hemophilia was passed from generation to generation in the royal family of England. For example, in the 1800's, Queen Victoria and King Albert had a son, Prince Leopold who had' hemophilia. Neither the king nor the queen had hemophilia. What is Leopold's genotype ...
... It is well known to historians that hemophilia was passed from generation to generation in the royal family of England. For example, in the 1800's, Queen Victoria and King Albert had a son, Prince Leopold who had' hemophilia. Neither the king nor the queen had hemophilia. What is Leopold's genotype ...
lac
... Monod showed that Z+Y- mutants did not take up a radioactively labeled galactoside in the presence of inducer. He concluded that lacY must encode an enzyme responsible for transporting the galactoside into cells: called it galactoside permease. ...
... Monod showed that Z+Y- mutants did not take up a radioactively labeled galactoside in the presence of inducer. He concluded that lacY must encode an enzyme responsible for transporting the galactoside into cells: called it galactoside permease. ...
File
... antibodies cannot reach target / cannot be detected by immune system; large genome; antigenic variation / AW; variation from meiosis; detail; e.g. independent assortment / crossing over parasite switches between different versions of proteins; ref var gene; max 3 ...
... antibodies cannot reach target / cannot be detected by immune system; large genome; antigenic variation / AW; variation from meiosis; detail; e.g. independent assortment / crossing over parasite switches between different versions of proteins; ref var gene; max 3 ...
By Lydia Bosman, MSc (Agric), and Rulien Grobler, BSc (Agric),
... These colour regulatory genes occur on different sites throughout the DNA of the animal, and at each site – or locus – the animal will have two versions of each gene. If these two versions of the gene are identical, the animal is said to be homozygous at that specific locus, while an animal with two ...
... These colour regulatory genes occur on different sites throughout the DNA of the animal, and at each site – or locus – the animal will have two versions of each gene. If these two versions of the gene are identical, the animal is said to be homozygous at that specific locus, while an animal with two ...
Genetics of allergic disease
... be genetic heterogeneity. This means that in different populations, separate genes act in the regulation of these phenotypes. To date, this cannot be investigated since the exact locations of these genes are still unknown. Using a single locus approach, the best fitting models for high serum IgE lev ...
... be genetic heterogeneity. This means that in different populations, separate genes act in the regulation of these phenotypes. To date, this cannot be investigated since the exact locations of these genes are still unknown. Using a single locus approach, the best fitting models for high serum IgE lev ...
aabb
... • Understanding the genetic basis of specific phenotypes (physical outcomes due to proteins assembled) and their transmission in humans can raise social and ethical issues. ...
... • Understanding the genetic basis of specific phenotypes (physical outcomes due to proteins assembled) and their transmission in humans can raise social and ethical issues. ...
fog-1, a Regulatory Gene Required for Specification of
... are also unc-11 mutants Therefore, the right end of deletions generated in this way will not extend into orpast d@5.) Four unc-11 mutations were recovered from approximately 6,000 chromosomes screened. Twowere viable unc1 1 mutations with no other phenotype. Two others were lethal. One of the lethal ...
... are also unc-11 mutants Therefore, the right end of deletions generated in this way will not extend into orpast d@5.) Four unc-11 mutations were recovered from approximately 6,000 chromosomes screened. Twowere viable unc1 1 mutations with no other phenotype. Two others were lethal. One of the lethal ...
Analysis of 16S ribosomal RNA gene segments for the diagnosis of
... Bacterial 16S-rRNA genes generally contain nine “hyper-variable regions” (V1–V9) that demonstrates considerable sequence diversity among different bacterial species and can be used for species identification (Van de Peer et al., 1996). Species-specific sequences within a given hyper-variable region ...
... Bacterial 16S-rRNA genes generally contain nine “hyper-variable regions” (V1–V9) that demonstrates considerable sequence diversity among different bacterial species and can be used for species identification (Van de Peer et al., 1996). Species-specific sequences within a given hyper-variable region ...
Analysing thousands of bacterial genomes: gene annotation
... Interpretation: this shows that with increase in –depth level, you select more number of species for phylogenetic profiles which sometime leads to over-representation of particular taxon, hence it may bias the result. Increase in –depth level also increases the program execution time. ...
... Interpretation: this shows that with increase in –depth level, you select more number of species for phylogenetic profiles which sometime leads to over-representation of particular taxon, hence it may bias the result. Increase in –depth level also increases the program execution time. ...
Transduction of DNA information through water and electromagnetic
... Moreover, the same sequence was found present in the red blood cells of some healthy individuals, HIV negative; but in these HIV negative individuals this sequence was found not to emit signals. This would indicate that the modification of this DNA resulting in EMS emission occurred only under patho ...
... Moreover, the same sequence was found present in the red blood cells of some healthy individuals, HIV negative; but in these HIV negative individuals this sequence was found not to emit signals. This would indicate that the modification of this DNA resulting in EMS emission occurred only under patho ...
4. The cell’s supply of ADP, P , and NAD
... NADH, both of these processes shut down when there is no available NAD+. 5. If the Krebs cycle does not require oxygen, why does cellular respiration stop after glycolysis when no oxygen is present? When no oxygen is present, oxidative phosphorylation cannot occur. As a result, the NADH produced in ...
... NADH, both of these processes shut down when there is no available NAD+. 5. If the Krebs cycle does not require oxygen, why does cellular respiration stop after glycolysis when no oxygen is present? When no oxygen is present, oxidative phosphorylation cannot occur. As a result, the NADH produced in ...
Deletion of a conserved noncoding sequence in Plzf intron leads to
... variants). Last but not least, there is one substantial deletion—2,964 bp in intron 2 of Plzf (Fig. 4B,C). Of interest, only 11 of these variants were recognized previously (Supp. Table S1), all the others are novel. Next, we examined whether the sequence variant was unique for strains carrying the ...
... variants). Last but not least, there is one substantial deletion—2,964 bp in intron 2 of Plzf (Fig. 4B,C). Of interest, only 11 of these variants were recognized previously (Supp. Table S1), all the others are novel. Next, we examined whether the sequence variant was unique for strains carrying the ...
Frontiers in Bioscience S4, 1266-1274, June 1
... Other types of small RNA, specifically piRNA, also interact with RISC and specific Argonaute proteins (11) and control expression similarly to miRNA by binding to the complementary coding region of the mRNA and cleaving or suppressing expression by occupying the accepting region for translation of t ...
... Other types of small RNA, specifically piRNA, also interact with RISC and specific Argonaute proteins (11) and control expression similarly to miRNA by binding to the complementary coding region of the mRNA and cleaving or suppressing expression by occupying the accepting region for translation of t ...
Prof. Kamakaka`s Lecture 16 Notes
... Catabolite Repression of the lac operonWhen we introduced the subject of regulation of gene expression, I gave an example of the response of E. coli when placed in a media containing both glucose and lactose. The induction of the lac operon does not occur until all the glucose has been metabolized. ...
... Catabolite Repression of the lac operonWhen we introduced the subject of regulation of gene expression, I gave an example of the response of E. coli when placed in a media containing both glucose and lactose. The induction of the lac operon does not occur until all the glucose has been metabolized. ...
Structure, expression and chromosomal location of the Oct
... group of related transcription factors containing a bipartite DNA-binding domain of 81 and 60 conserved amino acids which are separated by a poorly conserved linker sequence (reviewed in Sch61er, 1991). With the exception of these two regions, the proteins of this family are highly divergent. The PO ...
... group of related transcription factors containing a bipartite DNA-binding domain of 81 and 60 conserved amino acids which are separated by a poorly conserved linker sequence (reviewed in Sch61er, 1991). With the exception of these two regions, the proteins of this family are highly divergent. The PO ...
Site-specific recombinase technology

Nearly every human gene has a counterpart in the mouse (regardless of the fact that a minor set of orthologues had to follow species specific selection routes). This made the mouse the major model for elucidating the ways in which our genetic material encodes information. In the late 1980s gene targeting in murine embryonic stem (ES-)cells enabled the transmission of mutations into the mouse germ line and emerged as a novel option to study the genetic basis of regulatory networks as they exist in the genome. Still, classical gene targeting proved to be limited in several ways as gene functions became irreversibly destroyed by the marker gene that had to be introduced for selecting recombinant ES cells. These early steps led to animals in which the mutation was present in all cells of the body from the beginning leading to complex phenotypes and/or early lethality. There was a clear need for methods to restrict these mutations to specific points in development and specific cell types. This dream became reality when groups in the USA were able to introduce bacteriophage and yeast-derived site-specific recombination (SSR-) systems into mammalian cells as well as into the mouse