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File - singhscience
File - singhscience

Marjan Huizing, PhD Czeck it out: Growing up with Hermansky and
Marjan Huizing, PhD Czeck it out: Growing up with Hermansky and

... tyrosinase and tyrosinase-related protein-1 traffic to melanosomes by different routes (12). This served as just one example of how patients’ cells can be instructive for cell biology. 2001: HPS-3 About this time, we also realized that even some Puerto Rican patients with HPS did not have the HPS1 f ...
Interspecies transplacement of mitochondria
Interspecies transplacement of mitochondria

... oxidative phosphorylation. The ability to grow on glycerol was restored, however, after the protoplasts of the mutant yeast had been preincubated with mitochondria isolated from some respiration competent species of the genus Saccharomyces indicating that the foreign functional mitochondria have sub ...
Mapping the Genetic Architecture of Gene Expression in Human Liver
Mapping the Genetic Architecture of Gene Expression in Human Liver

... diseases (Table S3). For example, BRCA1, a well-known susceptibility gene for breast cancer, and CFH, a susceptibility gene for age-related macular degeneration identified in one of the first published GWASs, are each strongly associated with an eSNP (p ¼ 9.73 3 1017 for BRCA1 and p ¼ 6.94 3 1022 fo ...
Gene Section FLT3 (FMS-like tyrosine kinase 3) Atlas of Genetics and Cytogenetics
Gene Section FLT3 (FMS-like tyrosine kinase 3) Atlas of Genetics and Cytogenetics

Genetics
Genetics

... • Stores information for protein synthesis • Makes copies of itself ~ self replication • Able to change/vary/mutate ...
You Light Up My Life
You Light Up My Life

... Homologous Chromosomes • Homologous autosomes: – identical in length, size, shape, and gene sequence ...
Lecture 34, Apr 23
Lecture 34, Apr 23

... Steps in the Replication of a Molecule of DNA (1) 1. The two polynucleotide strands of the DNA molecule become separated at the origin of replication site by a specific protein complex. Eukaryotic nuclear DNA molecules contain multiple origin of replication sites on each molecule of chromatin (chro ...
Patterns of inheritance
Patterns of inheritance

... Genes: Segments of the DNA on chromosomes that code for a specific protein Locus (loci): The specific physical location of a gene on the chromosome Homologous chromosomes: Chromosomes that carry the same genes. Since most cells are diploid, they have a set of two chromosomes and therefore two copies ...
Light and an exogenous transcription factor
Light and an exogenous transcription factor

... reducing the need to feed supplemental protein. However, CT only accumulate in the seed coats of the most valuable forage species such as alfalfa and clovers, and are absent from their leaves. The ability to manipulate CT synthesis and to direct biosynthesis to the leaves of forage species has been ...
Chpt20_TxnlRegChromatin.doc
Chpt20_TxnlRegChromatin.doc

... actively expressing globin genes. In this particular case, formerly expressed genes retain their DNase I sensitivity.} An important negative control is the annealing to a labeled ovalbumin gene probe, a gene that is not expressed in either liver or red cells (only oviduct). In this case, the DNA fro ...
Sequencing Crop Genomes - Tropical Life Sciences Research
Sequencing Crop Genomes - Tropical Life Sciences Research

... O. sativa were distributed among the groups from 11 different countries (China, Japan, India, United States of America, United Kingdom, Taiwan, Korea, Thailand, France, Brazil, and Canada) (Eckardt 2000). Some private firms also contributed to the rice genome sequencing. In 2000, Monsanto completed ...
GEDI Input Data Format - Boston Children`s Hospital
GEDI Input Data Format - Boston Children`s Hospital

... To distinguish the header lines from the beginning of the gene expression data lines, the user must insert a special character “}” before the time series’ description. The columns in the header row on the right of the first column describe the samples (time point) qij represented by a particular col ...
Immunohistochemistry Assessment of P53 Protein in Basal Cell
Immunohistochemistry Assessment of P53 Protein in Basal Cell

... 41 BCCs (68.3%) and three of the 20 controls (15%) showed p53 mutations. Despite the small number of cases, our study suggests that mutation of p53 gene might be an early event in BCC tumorigenesis, and the progression of BCC in our Iranian population occurs through the inactivation of p53 gene. In ...
Lecture Outline
Lecture Outline

... 2. Therefore, he predicted that the R gamete will be obtained from an Rr parent 1/2 of the time, and the Y gamete will be obtained from a Yy parent 1/2 of the time. Neither is dependent on the other. (Fig. 13.6c) 3. To test the hypothesis, Mendel performed a testcross a. A testcross determines the t ...
Mendelian Genetics Lecture
Mendelian Genetics Lecture

... together, they make a new blood type called AB. ...
IGV Handout file
IGV Handout file

... viewer on which you can work with prebuilt genomes or load any genome that you want. It may be used for viewing a variety of data such as expression data, NGS alignments, microarray, epigenomics, RNA-Seq, genomic annotations etc. IGV has a friendly user interface. You may run it locally on your desk ...
Intelligence: Genetics, Genes, and Genomics
Intelligence: Genetics, Genes, and Genomics

... Project in order to identify some of the presumably many genes responsible for the heritability of intelligence. The third section— Genomics— discusses the next step, functional genomics, which attempts to chart pathways between genes and intelligence. To be able to address these issues, this articl ...
Impact of Tandem Repeats on the Scaling of Nucleotide Sequences
Impact of Tandem Repeats on the Scaling of Nucleotide Sequences

... so with the rapid completion of eukaryotic genomes. DNA sequences are composed of four nucleotides (A, G, C and T), with (A, G) representing the purines and (C, T) the pyrimidines. Repetitive nucleotide patterns form a prominent part of eukaryotic genomes and manifest themselves as tandem repeats. S ...
Lec13
Lec13

... Mimulus species (Schemske and Bradshaw, PNAS 1999) Pollination syndrome changes during the evolution of the Mimulus group: hummingbird or bee ...
GENETICS OF BACTERIOCINS BIOSYNTHESIS BY LACTIC ACID
GENETICS OF BACTERIOCINS BIOSYNTHESIS BY LACTIC ACID

... regulation of the gene expression). This is not unexpected because in the simplest case the bacteriocin expression needs at least two genes: one structural gene and another one that encodes an immunity protein specific to the produced bacteriocin. In most cases bacteriocin production needs also a sp ...
Supporting Information Legends Supporting Figure 1. Amino acid
Supporting Information Legends Supporting Figure 1. Amino acid

... Supporting Figure 2. Analyses of the mutated AGO2 gene structure. (A) Schematic diagrams of the AGO2 and the mutated AGO2 genes. The first half of the AGO2 genes is indicated. The black horizontal lines above or below the AGO2 diagrams correspond to the regions amplified by genomic PCR. The location ...
The effect of DNA phase structure on DNA walks
The effect of DNA phase structure on DNA walks

... Our analysis has been performed on eucaryotic genome of yeast Saccharomyces cerevisiae (16 chromosomes, 12 M base pairs) and bacterial genome Escherichia coli (4.6 M base pairs). The S. cerevisiae genome sequences were downloaded September 23, 1996 from: genomeftp.stanford.edu. The Escherichia coli ...
Molecular Mechanism of Mutation
Molecular Mechanism of Mutation

...  2nd major class of gene mutation  Addition or the removal, respectively, of one or more nucleotide pair  Usually changes the reading frame, altering all amino acids encoded by codons following the mutation  Also called as frame shift mutations ...
Mendelian Genetics ()
Mendelian Genetics ()

... • Describe the different forms of inheritance patterns and identify these in genetic data • Use and interpret probabilities and statistics in the gathering, predicting, and analysis of genetic data • Describe various types of genetic crosses and indicate when/why they would be used by a geneticist • ...
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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
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