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Case Report Section
Case Report Section

... ALL panel DNA probes including CEP 4, 10, and 17 alpha satellite probes, LSI MLL dual-color break apart probe, BCR/ABL and TEL/AML1 dual-fusion translocation probes was performed (Abbott Molecular, ...
Mutations in the MicroRNA Complementarity Site
Mutations in the MicroRNA Complementarity Site

... Our results and those of Prigge et al. (2005) are in striking contrast with those of Kim et al. (2005), who recently reported severe phenotypic alterations in transgenic plants bearing an antisense ATHB15 construct. To further analyze the involvement of At1g52150 on the phenotype of icu4 mutants, th ...
A Novel H-NS-like Protein from an Antarctic Psychrophilic Bacterium
A Novel H-NS-like Protein from an Antarctic Psychrophilic Bacterium

... reduced thermal energy, enzymatic proteins with a high specific activity are produced (4). At the molecular level, all proteins from psychrotrophic organisms studied so far have shown a decrease in their intramolecular interactions, usually associated with both higher flexibility and lower thermal s ...
Functional SNPs in the SCGB3A2 promoter are
Functional SNPs in the SCGB3A2 promoter are

... of susceptibility genes (3) and non-genetic factors, such as infection (4). Many genetic studies of GD have been carried out and several genes, such as human leukocyte antigen (3), cytotoxic T lymphocyte antigen 4 (CTLA-4) (5,6), CD40 gene (7), PTPN22 (8), TSHR (9) and SAS-ZFAT (10) have been linked ...
Personalis®: POSTER | A Negative Result on Exome Sequencing
Personalis®: POSTER | A Negative Result on Exome Sequencing

... 1 and chromosome 16 loci share 99.4% identity over 300 Kb. The HYDIN2 paralog was included in GRCh37 only as an unlocalized scaffold but has been added to the chromosome 1 assembly in GRCh38. All variation HYDIN, including clinically associated variants, needs to be reviewed in light of this highly ...
Insilico Studies on Taste Receptor Gene (Tas2r38) and Tas2r38
Insilico Studies on Taste Receptor Gene (Tas2r38) and Tas2r38

... leading to rejection of bitter food. It has been argued that bitter taste prevents us from ingesting potentially harmful or poisonous compounds. In fact, many bitter compounds, including food-borne substances, are toxic, although a relation of bitterness and toxicity has not been established. Bitter ...
Nucleus Evidence 1
Nucleus Evidence 1

... Some scientists have a hypothesis. Here is what they think:  Many people with Type 1 diabetes have a mutation in a gene called DRB.  In healthy people, the DRB gene gives instructions to the cells to produce a protein called the DRB protein. (Proteins are one kind of chemical structure in cells.) ...
Sample COLARIS AP LMNs
Sample COLARIS AP LMNs

... age(s) ______________________________. The number of adenomatous colorectal polyps detected in this patient (##) thus far is suggestive of mutations in the APC or MYH genes. Mutations in the APC gene are responsible for Familial Adenomatous Polyposis (FAP), which is characterized by a proliferation ...
Navigating the NCBI Intructions
Navigating the NCBI Intructions

... cursor over the species name to see the common name appear. Alternatively, you can perform an internet search to find the common name(s) of your organisms. List three organisms other than humans that have BRCA1 genes. Include both the scientific and common names. ...
PATTERNS OF INHERITANCE
PATTERNS OF INHERITANCE

... Symptoms of Huntington's disease commonly become noticeable between the ages of 35 and 44 years, but they can begin at any age from infancy,[1] [2] often when affected individuals have had children.[1] In the early stages, there are subtle changes in personality, cognition, or physical skills.[1] Th ...
E-Halliburton chapter 9
E-Halliburton chapter 9

... A very valuable property of FST is that it is a relative measure (range 0-1), meaning that FST are comparable even though they may be based on different types of genetic markers (e.g. Isozymes and DNA markers) with different mutation rates. ...
A phylogenomic approach to microbial evolution
A phylogenomic approach to microbial evolution

... as queries for the analysis. To present a quick overview of the results, phylogenetic trees and BLAST hits have been colour coded according to their phylogenetic connections. The colour coding system is currently based on the most inclusive taxonomic category, i.e. the domain (2). The circular organ ...
Divergent Evolution of Duplicate Genes Leads to Genetic
Divergent Evolution of Duplicate Genes Leads to Genetic

... phenotype as well. From these experiments, we concluded that the LD1 incompatibility results from a shortage of His in certain genotypes. To prove the causative role of HPA genes on LD1, we performed an allelic (quantitative) complementation test by combining different alleles at LD1.5 and At5g10330 ...
MAGMA manual (version 1.05)
MAGMA manual (version 1.05)

... header) or index, so for example adding ‘use=rsid,6’ will look for SNP IDs in the column named ‘rsid’, and for p-values in the sixth column. The N and ncol modifiers are used to specify the sample size. The N modifier is used to specify the sample size directly (the total sample size, also when usin ...
Conflicting patterns of mitochondrial and nuclear DNA diversity in
Conflicting patterns of mitochondrial and nuclear DNA diversity in

... constructed in paup* 4.0 (Swofford 1998) as described above. Because of computational limitations, we excluded all but the five most divergent willow warbler haplotypes, but included all unique haplotypes from the other species. A constant clock was rejected if, twice the difference in likelihood sc ...
Pseudogenes as regulators of biological function
Pseudogenes as regulators of biological function

... pseudogene (Figure 1C), is formed when an mRNA molecule is reverse-transcribed and integrated into a new location in the parental genome [4]. Because processed pseudogenes are produced from mRNA, they usually lack introns and a promoter, and are therefore only transcribed if they become integrated c ...
Three Allele Combinations Associated with
Three Allele Combinations Associated with

... The sets of patterns that receive high support from the data are stored as potential results. For each pattern, only those individuals that have all the pattern's alleles genotyped were considered. Thus the algorithm proceeded from incomplete genotypic information, temporarily omitting those individ ...
Figure 1000G Allele Frequencies
Figure 1000G Allele Frequencies

... a. Alternative translation start side: If the lost-of-function variant is near the beginning of the protein, translation could be initiated by a downstream in-frame AUG [30]. In our study, if the indel is in the first 25 codons (first 75 bp of translated cDNA) or within 5th percentile of the coding ...
full text - pdf 348 kB
full text - pdf 348 kB

... indicated by D or DL appearing before the symbol and separated from it by a hyphen. When it is desired to make the number of amino-acid residues appear more clearly, the hyphen between the configurational prefix and the symbol may be omitted (see 6.3.1 .1. et seq.). (Note The designation of an amino ...
The Genome of Deep-Sea Vent Chemolithoautotroph
The Genome of Deep-Sea Vent Chemolithoautotroph

... Presented here is the complete genome sequence of Thiomicrospira crunogena XCL-2, representative of ubiquitous chemolithoautotrophic sulfur-oxidizing bacteria isolated from deep-sea hydrothermal vents. This gammaproteobacterium has a single chromosome (2,427,734 base pairs), and its genome illustrat ...
Target selected insertional mutagenesis on chromosome IV of
Target selected insertional mutagenesis on chromosome IV of

... Fig. 1. Schematic representation of three-dimensional pooling and PCR strategies. A small population of 960 I element containing Arabidopsis lines was divided over 10 blocks (trays) and each block contained 96 plants (8 rows and 12 columns). Inflorescence material of every plant in the population wa ...
What is meant by the term monogenic? What`s probability got to do
What is meant by the term monogenic? What`s probability got to do

... • The genotype of the F1 round, yellow plants can be symbolized as RrYy to indicate that the plant is heterozygous for the dominant and recessive alleles for two different traits. • Mendel’s principle of segregation predicts that 1/2 of the gametes produced by such a plant should carry the dominant ...
Part 4 Student Handout - URMC
Part 4 Student Handout - URMC

... * Note: This laboratory activity is a simulation of the gene testing process that uses dyes instead of actual DNA molecules. The activity illustrates how agarose gel electrophoresis is used to separate DNA fragments of different lengths to determine if individuals have a defective gene. Performing t ...
NRT2 - Clark University
NRT2 - Clark University

Integrating Genetic and Network Analysis to Characterize Genes
Integrating Genetic and Network Analysis to Characterize Genes

... genes with differential topological overlap, we identify biologically interesting genes. The paper also shows the value of summarizing a module by ...
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Gene nomenclature

Gene nomenclature is the scientific naming of genes, the units of heredity in living organisms. An international committee published recommendations for genetic symbols and nomenclature in 1957. The need to develop formal guidelines for human gene names and symbols was recognized in the 1960s and full guidelines were issued in 1979 (Edinburgh Human Genome Meeting). Several other species-specific research communities (e.g., Drosophila, mouse) have adopted nomenclature standards, as well, and have published them on the relevant model organism websites and in scientific journals, including the Trends in Genetics Genetic Nomenclature Guide. Scientists familiar with a particular gene family may work together to revise the nomenclature for the entire set of genes when new information becomes available. For many genes and their corresponding proteins, an assortment of alternate names is in use across the scientific literature and public biological databases, posing a challenge to effective organization and exchange of biological information. Standardization of nomenclature thus tries to achieve the benefits of vocabulary control and bibliographic control, although adherence is voluntary. The advent of the information age has brought gene ontology, which in some ways is a next step of gene nomenclature, because it aims to unify the representation of gene and gene product attributes across all species.Gene nomenclature and protein nomenclature are not separate endeavors; they are aspects of the same whole. Any name or symbol used for a protein can potentially also be used for the gene that encodes it, and vice versa. But owing to the nature of how science has developed (with knowledge being uncovered bit by bit over decades), proteins and their corresponding genes have not always been discovered simultaneously (and not always physiologically understood when discovered), which is the largest reason why protein and gene names do not always match, or why scientists tend to favor one symbol or name for the protein and another for the gene. Another reason is that many of the mechanisms of life are the same or very similar across species, genera, orders, and phyla, so that a given protein may be produced in many kinds of organisms; and thus scientists naturally often use the same symbol and name for a given protein in one species (for example, mice) as in another species (for example, humans). Regarding the first duality (same symbol and name for gene or protein), the context usually makes the sense clear to scientific readers, and the nomenclatural systems also provide for some specificity by using italic for a symbol when the gene is meant and plain (roman) for when the protein is meant. Regarding the second duality (a given protein is endogenous in many kinds of organisms), the nomenclatural systems also provide for at least human-versus-nonhuman specificity by using different capitalization, although scientists often ignore this distinction, given that it is often biologically irrelevant.Also owing to the nature of how scientific knowledge has unfolded, proteins and their corresponding genes often have several names and symbols that are synonymous. Some of the earlier ones may be deprecated in favor of newer ones, although such deprecation is voluntary. Some older names and symbols live on simply because they have been widely used in the scientific literature (including before the newer ones were coined) and are well established among users.
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