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Chromosomal breakpoint positions suggest a direct role for radiation
Chromosomal breakpoint positions suggest a direct role for radiation

... An alternative to the direct pathway is that radiation does not act directly to produce the RET/PTC3 fusion, but instead may cause persistent genomic instability, which eventually produces one or more mutations that result in tumor progression (reviewed in Nikiforov and Fagin, 1998). Whether the gen ...
A Pneumocystis carinii multi-gene family with
A Pneumocystis carinii multi-gene family with

... 1993). The library was screened with a cDNA clone containing a region of a P. carinii f. sp. carinii MSG gene (EMBL accession number 20870, donated by C. J. Delves and F. Volpe), as part of a study examining subtelomeric sequences in P. carinii. A relatively high number of recombinant plaques gave p ...
Nucleic Acids Research, 32: D489-D492 (2004).
Nucleic Acids Research, 32: D489-D492 (2004).

... statistics that can be gleaned from AluGene. The total number of Alu elements in the currently sequenced human genome is 1 169 291. Forty ®ve percent (45%) of all Alus are contained within genes; the rest lie within intergenic regions. There are 28 049 transcripts in AluGene, of which 17 781 (63%) c ...
Genes - Gerstein Lab Publications
Genes - Gerstein Lab Publications

... pseudogene that is most similar to the gene W08D2.5. This is probably a processed pseudogene as there is no evidence of the exon structure of one of its paralogs. In general, however, these matches will not correspond to the length of the whole pseudogene, and are only used to detect the presence of ...
Specialized adaptation of a lactic acid bacterium to the milk
Specialized adaptation of a lactic acid bacterium to the milk

... proteins involved in amino acid transport and metabolism, transposases, or proteins having unknown functions. Eight of the LMD-9 specific regions contain ORFs with conserved homologs in Streptococcus salivarius (more than 90% sequence identity), notably genes coding for glycosyltranferases (R12 ...
Hthsci 2231
Hthsci 2231

... Her face is characteristic of her genetic abnormality. She had low nasal bridge, eyelids that are folded, a protruding tongue and flat, low set ears. She had already had surgery for a congenital heart defect. a. ...
Development of novel computational tools based on
Development of novel computational tools based on

... are variable in their overall GC content but the genes in genomes of particular species are fairly uniform with respect to their base composition patterns of codon usage and frequencies of oligonucleotides (Sueoka, 1962; Ochman et al., 2000; Hsiao et al., 2003a). The phylogenetic aspect of similarit ...
Genetic and Molecular Diagnostics – Next Generation Sequencing
Genetic and Molecular Diagnostics – Next Generation Sequencing

... the laboratory is located in a geographical area that has adopted MolDX guidelines. a. For Medicare jurisdictions which HAVE adopted MolDX Program guidelines: i. The MolDX Program has determined certain gene tests do not meet Medicare’s medical necessary requirements, and that the inclusion of these ...
Construction and Characterization of a Highly Regulable Expression
Construction and Characterization of a Highly Regulable Expression

... A number of different expression vectors have been developed to facilitate the regulated overproduction of proteins in Escherichia coli and related bacteria. Some of the more popular ones include pKK223-3, pKK233-2, pTrc99A, and the pET family of expression vectors. These vectors were designed to be ...
Horizontal transfer generates genetic variation in an asexual
Horizontal transfer generates genetic variation in an asexual

... in the chromosomal structure of JR2 between the core genome and LS regions: the LS regions are rich in highly similar but unidentical sequences, whereas the core is poor in such sequences. In the above example, the three types of highly similar sequences were found in the LS regions of JR2. To see w ...
Slide 1
Slide 1

... Compute the allele frequency in population ...
The Drosophila Gene Disruption Project: Progress
The Drosophila Gene Disruption Project: Progress

... have been described (Thibault et al. 2004). These lines probably do not represent a completely random collection of insertions, because some lines disrupting major hotspots appear to have been culled by Exelixis. However, we found many cases where at least two lines bearing identical piggyBac insert ...
Repair of Site-Specific DNA Double-Strand Breaks in
Repair of Site-Specific DNA Double-Strand Breaks in

... cells due to loss of acentric fragments and instability of centric break ends. Living organisms have evolved a range of DSB repair mechanisms. DSBs can be repaired correctly to restore the prebreak status or result in genome variability by conversion, inversion, insertion, deletion, or translocation ...
Application No. DIR 108 SUMMARY INFORMATION
Application No. DIR 108 SUMMARY INFORMATION

... gene encodes glyphosate oxidoreductase, an enzyme capable of degrading glyphosate into nontoxic metabolites. The cp4 epsps gene encodes a 5-enolpyruvylshikimate-3-phosphate synthase (EPSPS) enzyme. EPSPS enzymes participate in a biosynthetic pathway found in both plants and microorganisms that is re ...
A, B, a
A, B, a

... • In diploid heterozygous for mutant alleles of the same gene, recombination can generate wild-type and double mutant alleles a1/a2  a+ and a1,2 • Rare event, 10-3 to 10-6, but in systems with large number of offspring, recombination can be used to map mutations within a gene Chapter 6: Eukaryote r ...
High-Resolution Single-Copy Gene Fluorescence in Situ
High-Resolution Single-Copy Gene Fluorescence in Situ

... High-resolution cytogenetic maps provide important biological information on genome organization and function, as they correlate genetic distance with cytological structures, and are an invaluable complement to physical sequence data. The most direct way to generate a cytogenetic map is to localize ...
MCScanX`s manual
MCScanX`s manual

... pair-wise homologous relationships. The optional third column shows the scores of pair-wise homologous relationships. When the third column is used, users need to specify whether higher or lower values are preferred. As an example, users can use the combination of “orthologs.txt” and “coortholog.txt ...
Online resources for genetic variation study-Part One
Online resources for genetic variation study-Part One

...  Tandem repeats are genomic regions consisting of variable length of sequence motifs repeating in tandem with variable copy number.  Used as genetic markers for DNA finger printing (forensic, parentage testing)  Many cause genetic diseases  Microsatelites (Short Tandem Repeats): repeat unit 1-6 ...
Molecular Signatures of Natural Selection for Polymorphic Genes of
Molecular Signatures of Natural Selection for Polymorphic Genes of

... The question of why there exists variation for genes affecting human neural function and behavior has engaged many authors (e.g., Keller and Miller, 2006; Nettle, 2006; Crespi et al., 2007; Penke et al., 2007; Verweij et al., 2012). This genetic variation must result from some combination of the bas ...
Cloning - Allegiance
Cloning - Allegiance

... • Cloning has been going on in the natural world for thousands of years. A clone is simply one living thing made from another, leading to two organisms with the same set of genes. In that sense, identical twins are clones, because they have identical DNA. Sometimes, plants are self-pollinated, produ ...
Physical Mapping of a 670-kb Region of Chromosomes XVI and XVII
Physical Mapping of a 670-kb Region of Chromosomes XVI and XVII

... Figure 2 Megarestriction map and YAC contig of the region containing the loci h49 and j18. (A) Megarestriction map of the region spanning the loci h49 and j18. As described in legend of Figure 1, T. cruzi chromosomal DNA and isolated chromosomal bands XVI and XVII were digested with different restri ...
Artificial selection on introduced Asian haplotypes shaped the
Artificial selection on introduced Asian haplotypes shaped the

... reference genome in 2012 [19] greatly contributed to the applicability of these techniques in pig breeding. This genomic information can also be used to pinpoint regions in the genome that have been under selective pressure. The resulting changes at the DNA level have been detected as selective swee ...
Small, Smaller, Smallest: The Origins and Evolution of Ancient Dual
Small, Smaller, Smallest: The Origins and Evolution of Ancient Dual

First report of a tetracycline-inducible gene
First report of a tetracycline-inducible gene

... system to be functional in the ruminant pathogen, suggesting that this tetracycline-inducible promoter system might be of general use in mollicutes. ...
MGF 360-17R Missing
MGF 360-17R Missing

... Grey boxes: In-frame deletion ...
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Copy-number variation



Copy-number variations (CNVs)—a form of structural variation—are alterations of the DNA of a genome that results in the cell having an abnormal or, for certain genes, a normal variation in the number of copies of one or more sections of the DNA. CNVs correspond to relatively large regions of the genome that have been deleted (fewer than the normal number) or duplicated (more than the normal number) on certain chromosomes. For example, the chromosome that normally has sections in order as A-B-C-D might instead have sections A-B-C-C-D (a duplication of ""C"") or A-B-D (a deletion of ""C"").This variation accounts for roughly 13% of human genomic DNA and each variation may range from about one kilobase (1,000 nucleotide bases) to several megabases in size. CNVs contrast with single-nucleotide polymorphisms (SNPs), which affect only one single nucleotide base.
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