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Leukaemia Section t(7;12)(q34;p13), t(12;14)(p13;q11) Atlas of Genetics and Cytogenetics in Oncology and Haematology
Leukaemia Section t(7;12)(q34;p13), t(12;14)(p13;q11) Atlas of Genetics and Cytogenetics in Oncology and Haematology

... interphasic nuclei from a patient with t(7;12)(q34;p13) using CCND2 flanking probes at 12p13. The centromeric BAC clone RP11-388F6 (red) and the telomeric BAC clone RP11-320N7 (green) show one fusion signal at the normal chromosome 12, and dissociated signals at der(12) (red signal) and der(7) ...
Touring Ensembl: A practical guide to genome browsing Open Access
Touring Ensembl: A practical guide to genome browsing Open Access

... Case Study 2: Function for a Gene In case 1, we investigated a gene for which there is information already known about promoter and enhancer elements. Although most human genes in Ensembl are labelled as 'known', signifying a good match to a cDNA or protein in a biological database such as UniProt o ...
BIOINFORMATICS ORIGINAL PAPER Going from where to why—interpretable prediction of protein subcellular localization
BIOINFORMATICS ORIGINAL PAPER Going from where to why—interpretable prediction of protein subcellular localization

... Second, we make use of annotation-based features such as PROSITE patterns and GO terms. PROSITE patterns describe protein domains, families, as well as functional sites. A PROSITE pattern feature is assigned a value of one if the pattern is found in the protein sequence using PROSITE scan. In additi ...
Dual roles of lineage restricted transcription factors
Dual roles of lineage restricted transcription factors

Couchioplanes caeruleus - International Journal of Systematic and
Couchioplanes caeruleus - International Journal of Systematic and

... Actinoplanes caeruleus I F 0 13939T(T = type strain) and “Actinoplanesazureus” I F 0 13993Tare known to have the same characteristics. Therefore, the taxonomic position of these three strains was studied. Aerial mycelia of these strains fragmented during the growth cycle and produced motile spores a ...
Archives of Microbiology
Archives of Microbiology

... of the VnfDG products are altered by this gene fusion, nor whether the unique addition of 21 nucleotides in the vnfDG fusion area of Anabaena sp. CH1 is of functional signiWcance. In a neighbor-joining analysis of all available deduced VnfDG sequences, those from cyanobacteria clustered next to thos ...
popgen
popgen

... Check Work! Does p2 + 2pq + q2 = 1? What does this data mean??? Lab: Aside from disease/carrier status, why is knowing heterozygosity important? ...
important update on the status of curly calf syndrome
important update on the status of curly calf syndrome

... Based on this substantial pedigree evidence, there is compelling evidence to suggest that Curly Calf Syndrome is a genetic disorder inherited as a simple recessive trait. A recessive gene is one that you do not see in the offspring unless it is inherited from both parents. Thus, for a calf to be bor ...
Nitrogen Acquisition and Amino Acid Metabolism
Nitrogen Acquisition and Amino Acid Metabolism

... ii. The carboxyl groups on the outside can donate H atoms so there is a passing of double bonds from one component to another iii. Protons are released and end up hooking onto the nitrogen when it acquires 2 electrons. iv. Build hydrogens around nitrogen to make ammonium ion. f. Bottom line: You hav ...
Using comparative genomic hybridization to
Using comparative genomic hybridization to

genome - Sift Desk
genome - Sift Desk

... the TAIR database were taken as reference for the phylogenetic analysis for a better classification. As a result, the 89 ClaR2R3-MYB and one Cla3R-MYB proteins together with the 126 R2R3-MYB and 5 of 3R-MYB from Arabidopsis were clustered into 39 clades (C1-C39, Fig. 3a). Two of the ClaR2R3-MYB prot ...
Key Residues Controlling Binding of Diverse Ligands to Human
Key Residues Controlling Binding of Diverse Ligands to Human

... and the nicotine-derived compounds cotinine and 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK). CYP2A13 metabolizes nicotine and cotinine with 23- and 15-fold higher catalytic efficiency (kcat/Km) than CYP2A6, respectively (Bao et al., 2005). In addition, the metabolism of NNK by CYP2A13 occur ...
Mutations at the Darkener of apricot Locus Modulate Transcript
Mutations at the Darkener of apricot Locus Modulate Transcript

Oncogenic potential of the DNA replication licensing protein
Oncogenic potential of the DNA replication licensing protein

... Cells overexpressing Ris2/Cdt1 exhibited a quicker entry into S phase when released from serum starvation compared to controls. Our results suggest that CDT1, an essential licensing protein for DNA replication, can function as an oncogene in mammals. Oncogene (2002) 21, 1150 ± 1158. DOI: 10.1038/sj/ ...
Transcriptional activity and role of plasmids of
Transcriptional activity and role of plasmids of

... membrane and reducing PMF-dependent activities such as nutrient uptake [2]. Eventually, this loss of function and decrease in cell permeability inhibits cell growth and can result in cell death [2 – 3]. Further, as an exchange of proton and divalent cations (Mn2+) is involved in PMF regulation, intr ...
Amyotrophic lateral sclerosis: Protein
Amyotrophic lateral sclerosis: Protein

... gained increasing attention due to their ability to quantify thousands of proteins, compared to hundreds using 2-DE. A comprehensive review of proteomics technologies is beyond the scope of this review, but interested readers would be able to obtain more in-depth information about these technologies ...
Effects of Salt Concentrations and Bending Energy on the Extent of
Effects of Salt Concentrations and Bending Energy on the Extent of

... concentration cDNA (spacing dðoÞ ). As a consequence, even if the DNA were allowed the opportunity to ‘‘escape’’ from its confinement, it would not because there is no thermodynamic driving force for this process. For any lower value of cPEG there is a pressure difference and hence a net force (outw ...
How to order genetic testing for Hemophilia A and B
How to order genetic testing for Hemophilia A and B

... How to Order Genetic Tests for Hemophilia A or B: Part 2 ...
105 - Heritable Diseases of Connective Tissue
105 - Heritable Diseases of Connective Tissue

... ratios for whites and African-Americans across ages. An average-height white child 8 to 10 years old has a U/L segment ratio of approximately 1 and as an adult has a U/L segment ratio of 0.95. Individuals presenting with disproportionate short stature have altered U/L segment ratios depending on whe ...
Molecular Systematics of the Genus Zoogloea and Emendation of
Molecular Systematics of the Genus Zoogloea and Emendation of

... chain reaction with a pair of eubacterial consensus primers and sequenced directly by using an automated fluorescent DNA sequencer. Sequence comparisons and distance matrix tree analysis revealed that Zoogloea ramigera IAM 12136 (= N. C. Dondero 106, type strain) and Zoogloea sp. ATCC 19324 formed a ...
the modern molecular clock
the modern molecular clock

... sequences for a particular gene or genes. However, this approach will fail to count ‘multiple hits’ (repeated changes), so a model of sequence evolution is needed to estimate the true number of substitutions that have occurred, using the observed number67. Selection of the substitution model governs ...
design of lupin seeds lactic acid fermentation – changes of
design of lupin seeds lactic acid fermentation – changes of

... Legume crops represent the major food/feed sources for humans and livestock worldwide; they possess limiting levels of some of these essential amino acids, particularly lysine and methionine (Galili and Amir, 2013). In addition to their favourable nutritional profile, legumes also contain a range of ...
Functional characterization of LePGT1, a membrane
Functional characterization of LePGT1, a membrane

... cause trouble in yeast [30]. To clarify the molecular basis of the difference in prenyl-substrate specificity, several chimeric enzymes were also prepared using GPP-specific LePGT1 and a UQ biosynthetic PPT, UBIA with broad substrate specificity [23,32], and enzymatic function was characterized usin ...
PROCUSTE1 Encodes a Cellulose Synthase Required for Normal
PROCUSTE1 Encodes a Cellulose Synthase Required for Normal

... culture conditions used, neither wild-type nor prc1-1 accumulated significant levels of (1→3)-␤-glucan (callose). Also, staining with iodine failed to detect starch in wild-type or prc1-1 hypocotyls (data not shown). The presence of minor amounts of xylosyl (5%), rhamnosyl (6%), uronic acid (10%), g ...
Impaired ATP Synthase Assembly Associated with
Impaired ATP Synthase Assembly Associated with

... FIG. 4. Comparison of the levels of newly synthesized and steady-state complex V holoenzyme and sub-complexes indicated a decreased rate of enzyme assembly in lung carcinoma NARP cybrids compared with controls. 35S-Labeled protein after a 1-h pulse and a chase of 1 h (panels 1, 2, and 3) or 3 h (pan ...
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Point mutation



A point mutation, or single base modification, is a type of mutation that causes a single nucleotide base change, insertion, or deletion of the genetic material, DNA or RNA. The term frameshift mutation indicates the addition or deletion of a base pair. A point mutant is an individual that is affected by a point mutation.Repeat induced point mutations are recurring point mutations, discussed below.
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