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Meiotic DSBs and the control of mammalian recombination
Meiotic DSBs and the control of mammalian recombination

... restricted to hotspots when PRDM9 is present, but that SPO11 defaults to other sites of trimethylation in its absence. Exceptionally, PRDM9 does not activate the obligatory genetic crossover in male meiosis that occurs at the boundary of the pseudo-autosomal region (PAR), the region that is shared b ...
The causes and molecular consequences of polyploidy in
The causes and molecular consequences of polyploidy in

Gene and Genome Sequencing
Gene and Genome Sequencing

... –  In  one  exercise  we  will  use  Fungi  genomes  because  not   enough  oomycete  data  was  available   –  In  one  exercise  we  will  switch  between  FungiDB  and   EuPathDB  to  show  extra  func�ons  not  yet  available  in ...
Accounting for Non-Genetic Factors Improves the Power of eQTL
Accounting for Non-Genetic Factors Improves the Power of eQTL

... other physiological and biological factors. In principle, when collecting gene expression data sets for eQTL, non-genetic factors should be controlled to be constant across all samples, but in practice this can only be achieved to a limited degree. Indeed, it is reasonable to expect that a substanti ...
View PDF
View PDF

... of eutherians and marsupials 180 MYA, but before the eutherian radiation 105 MYA. Thus, the PWS–AS domain was constructed relatively recently from non-imprinted components acquired from all over the genome, including protein-coding genes that were translocated or retroposed, snoRNAs and elements tha ...
PART II Introducció 53
PART II Introducció 53

... segon reordenament més comú que afecta el cromosoma 15 i dóna lloc a un cromosoma 15 extranumerari (Blennow et al., 1995; Huang et al., 1997). S’han identificat duplicacions proximals de 15q en casos d’autisme i individus amb graus variables de retard mental (Cook et al., 1997). A la regió més prox ...
reviews
reviews

... alleles retained a proportion of the activity of wild-type alleles. Different alleles had an impact on different qualitative patterns of characters, contributing to unique phenotypes. Such observations supported Hermann Joseph Muller’s famous proposal that a large array of non-null alleles exists fo ...
Genetic Control of Meat Quality Traits
Genetic Control of Meat Quality Traits

... These are major welfare problems as well as threatening productivity. In addition, the inadvertent selection for genetic defects linked to desirable production characteristics is a potential risk, especially when selection programes focus on a limited number of breeding individuals. The traits that ...
Paper
Paper

... i et al. (1) sequenced cDNA from lymphoblastoid cell lines derived from 27 individuals whose genomes have been sequenced at low coverage (2) and identified 10,210 sites of mismatches between an individual’s mRNA and DNA sequences [RNA-DNA differences (RDDs)]. RDD sites included all possible combinat ...
patterns of linkage disequilibrium in the human genome
patterns of linkage disequilibrium in the human genome

... numerous families, or very large, multigeneration pedigrees, the number of observed crossovers is small, with the resulting gene being mapped to a consequently large interval1,2. This was a particularly important limitation in the days when very little of the genome had been sequenced. Other methods ...
Discussion of Poultry Genetics
Discussion of Poultry Genetics

... Comb type in chickens is due to two genes, the rose comb gene, R, and the pea comb gene, P. These two  genes are on different chromosomes. The lack of these genes is represented with lower‐case letters, r  and p. More correctly stated, r and p (or r+ and p+ to indicate they are the wild‐type genes)  ...
An Arabidopsis Mutant with a Reduced Leve1 of cabl40 RNA 1s a
An Arabidopsis Mutant with a Reduced Leve1 of cabl40 RNA 1s a

... gene suppression has not been proven (MOIet al., 1991). Promoter methylation has been correlated with silencing of an introduced gene after transformation with a second homologous gene (Matzke et al., 1989); however, methylation of a repressed native gene has not yet been reported. Evidence for ecto ...
Phevor Combines Multiple Biomedical Ontologies for
Phevor Combines Multiple Biomedical Ontologies for

... traversable via the ontologies’ relationships (edges). For example, annotating a gene with the term ‘‘deaminase activity’’ makes it possible to deduce that the same gene encodes a protein with ‘‘catalytic activity.’’ In recent years, many biomedical ontologies have been created for the management of ...
Toxicity Mechanisms Identification via Gene Set
Toxicity Mechanisms Identification via Gene Set

... molecular toxicity response is also dose-dependent.18 Transition of dominant function or pathway at different dose concentrations has been observed in previous studies, which provided extra mechanistic information beyond the traditional phenotypic dose-response curves.19−22 The ability to reveal if a ...
Strategies for the molecular genetic manipulation and visualization of the... Penicillium marneffei
Strategies for the molecular genetic manipulation and visualization of the... Penicillium marneffei

... Targeted integration of plasmids Targeted integration of constructs at specific loci offers many advantages over non-specific ectopic integration by overcoming possible copy number and position effects. A series of targeting constructs were generated to allow for the integration of plasmids at known ...
The genetic basis of evolutionary change in gene expression levels
The genetic basis of evolutionary change in gene expression levels

... structural genes’ (Ohno 1972). Just a few years later, King & Wilson (1975) wrote what was to become an especially influential paper, arguing that comparisons between human and chimpanzee peptide sequences showed too few differences to account for their observed morphological differences, though the ...
How Does DNA Determine the Traits of an Organism
How Does DNA Determine the Traits of an Organism

... How Does DNA Determine the Traits of an Organism? Introduction: In this simulation, you will examine the DNA sequence of a fictitious organism the Snork. Snorks were discovered on the planet Dee Enae in a distant solar system. Snorks only have one chromosome with eight genes on it. Your job is to an ...
- Wiley Online Library
- Wiley Online Library

... these lesions have been found to have intellectual disability. The causes of the periventricular nodular heterotopia and infantile spasms are unclear. West syndrome is usually the final common manifestation of a diverse list of structural, metabolic, and genetic etiologies presenting during the firs ...
M-protein and other intrinsic virulence factors of Streptococcus
M-protein and other intrinsic virulence factors of Streptococcus

... tes present a bidirectional replication starting from the origin of replication and reading in both directions until reaching a terminus (replication inset). The bidirectional replication therefore defines a leading and a lagging strand in the double helix. In the contrary, nucleotide sequence readi ...
BMC Genomics
BMC Genomics

... tes present a bidirectional replication starting from the origin of replication and reading in both directions until reaching a terminus (replication inset). The bidirectional replication therefore defines a leading and a lagging strand in the double helix. In the contrary, nucleotide sequence readi ...
Genome position and gene amplification | SpringerLink
Genome position and gene amplification | SpringerLink

... these cells with respect to site specific response to drug challenge. We used array comparative genomic hybridization (CGH) to identify and classify the types of genomic alterations in the drug resistant cells, fluorescent in situ hybridization (FISH) to study the organization and mechanism of ampli ...
PowerPoint File, 13.82 MB
PowerPoint File, 13.82 MB

... • “Recurrent de novo CNVs” can arise via meiotic segregation (SNH Model), yielding non-parental gene complements that have phenotypic consequences (transgressive segregation?) • Genetic variation arising from SNH model would NOT be detected in typical genome scans ...
The Value of MLPA in Waardenburg Syndrome - MRC
The Value of MLPA in Waardenburg Syndrome - MRC

... proband’s DNA and demonstrated for the first time in WS that the entire PAX3 promoter region in addition to exon 1 was deleted. This 1-kb junction fragment was also found in the proband’s affected father (hearing) and affected brother(deaf). This further demonstrates the variable expression of WS1, ...
Test Info Sheet
Test Info Sheet

... novo submicroscopic deletions in this chromosomal region and therefore could place the patient at risk for developing Wilms tumor. Large gross chromosomal deletion can be detected by cytogenetic analysis, fluorescent in situ hybridization (FISH) and oligo array Comparative Genomic Hybridization (oli ...
Document
Document

... RNA modifications, while creating challenges for analysis , especially in peak-finding. However, there have been no any available tools or softwares for MeRIP-Seq data analysis yet. Here, we present a high-efficiency and easily-used analysis pipeline called MeRIP-PF, which is a publicly available op ...
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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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