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Supplements - Haiyuan Yu
Supplements - Haiyuan Yu

... Gene symbols: Gene symbols may be used as input to BISQUE, and will be interpreted as equivalent to the corresponding UniProt protein. This means that associated loci and variants should be made in reference to the UniProt identifier. All other inputs should use systematic database names. Identifier ...
A novel duplication in the HOXA13 gene in a family with atypical
A novel duplication in the HOXA13 gene in a family with atypical

... Eight families and four sporadic cases with characteristic features of HFGS have been described so far.16–18 20–28 The phenotype varies both within and between these families. In 1997, it was reported that HFGS is caused by mutations in the HOXA13 gene.29 The following mutations in HOXA13 have been ...
Two distinct teleost hepatocyte nuclear factor 1 genes, hnf1a/tcf1
Two distinct teleost hepatocyte nuclear factor 1 genes, hnf1a/tcf1

... Apart from its functional roles in adult organs, hnf1b is required for embryonic development including visceral endoderm, ectoderm differentiation (Coffinier et al., 1999), mesoderm induction (Vignali et al., 2000) and organogenesis of kidney, liver and pancreas (Wild et al., 2000; Sun and Hopkins, ...
Causes, consequences and solutions of
Causes, consequences and solutions of

... The widespread occurrences of phylogenetic incongruence among methods and also among genes are well-known [10, 11]. Although there is no doubt about the existence of statistically significant incongruence among different tree reconstruction methods, but statistically significant incongruence among g ...
Genetic and biochemical identification of the
Genetic and biochemical identification of the

... Chorismate mutase (CM) catalyses the rearrangement of chorismate to prephenate and is also the first and the key enzyme that diverges the shikimate pathway to either tryptophan (Trp) or phenylalanine (Phe) and tyrosine (Tyr). Corynebacterium glutamicum is one of the most important amino acid produce ...
Updated slides on gene prediction
Updated slides on gene prediction

... Gene Prediction Analogy • Newspaper written in unknown language – Certain pages contain encoded message, say 99 letters on page 7, 30 on page 12 and 63 on page 15. • How do you recognize the message? You could probably distinguish between ads and other stories (ads contain the “$” sign often) • Stat ...
YEAST GENETICS AND MOLECULAR BIOLOGY
YEAST GENETICS AND MOLECULAR BIOLOGY

... interesting information and even movies! Check out the course link page For instance, there is kind of a text book on the Internet: http://www.phys.ksu.edu/gene/chapters.html This site: http://genome-www.stanford.edu/Saccharomyces/VL-yeast.html links to various types of basic information on yeast ge ...
Males with MECP2 Mutations
Males with MECP2 Mutations

... Because these males have two copies of the X chromosome and undergo the same process of X inactivation that is seen in females, these males present with a clinical presentation that is very consistent with the classic Rett syndrome presentation. These males, will in addition to having the clinical f ...
Familial Adenomatous Polyposis (FAP)
Familial Adenomatous Polyposis (FAP)

... What types of operation are available for FAP? An ileo-rectal anastomosis (IRA) involves removing the large bowel and attaching the small bowel to the rectum. The rectum may develop polyps so this must be examined at least once a year to prevent a cancer starting there. In a pouch operation the lin ...
Updated slides on gene prediction
Updated slides on gene prediction

... Gene Prediction Analogy • Newspaper written in unknown language – Certain pages contain encoded message, say 99 letters on page 7, 30 on page 12 and 63 on page 15. • How do you recognize the message? You could probably distinguish between ads and other stories (ads contain the “$” sign often) • Stat ...
Site-Directed Mutagenesis Using Oligonucleotide
Site-Directed Mutagenesis Using Oligonucleotide

... 2. Site-directed mutagenesis using oligonucleotides Precise insertion of chromosomal mutations has been established as the “gold standard” for analysis of bacterial gene function. Generation of point mutations, seamless deletions and in-frame gene fusions without leaving selectable markers or a reco ...
Original articles Class I integrons in Gram-negative
Original articles Class I integrons in Gram-negative

... variations. Integron-positive isolates were statistically more likely to be resistant to aminoglycoside, quinolone and -lactam compounds, including third-generation cephalosporins and monobactams, than integron-negative isolates. Integron-positive isolates were also more likely to be multi-resistant ...
me-6 - Genetics
me-6 - Genetics

... v/v) me-6 fails to grow on methionine, me grows poorly, but mac is unaffected. Under these conditions me-6 grows on methionine plus adenine and the growth of me on methionine was enhanced by adenine. me appears to differ from me-6 only in that it is a more leaky mutant. Analyses of methionine protot ...
Males with MECP2 Mutations
Males with MECP2 Mutations

... these clinical features were subsequently given the designation of Rett syndrome in 1983 in recognition of Dr. Rett’s original report. Rett syndrome is still considered a clinical diagnosis based on specific developmental history and clinical criteria. These clinical criteria were last revised i ...
A strategy for extracting and analyzing large
A strategy for extracting and analyzing large

... of the double mutant. Indeed, a double mutant could have a more severe phenotype than either single mutant and still represent a synthetic, neutral, or alleviating interaction. Typically, large-scale studies have scored gene-gene interactions in a binary manner (synthetic sick/lethal or noninteracti ...
Belote, J. m., F. M. Hoffmann, M. McKeown, R. Chorsky, and B. S. Baker. (1990). Cytogenetic analysis of chromosome region 73AD of Drosophila melanlgaster. Genetics 125: 783-793.
Belote, J. m., F. M. Hoffmann, M. McKeown, R. Chorsky, and B. S. Baker. (1990). Cytogenetic analysis of chromosome region 73AD of Drosophila melanlgaster. Genetics 125: 783-793.

... effective lethal periods of lethal mutants, flies carrying the lethal allele of interest heterozygous over a balancer chromosome were crossed to wild-type flies (either Canton S or Oregon R), and virgin females heterozygous for the lethal mutant were collected. These females were then mated to Df(3L ...
Selection of Suitable Endogenous Reference Genes for Relative
Selection of Suitable Endogenous Reference Genes for Relative

... inserts. To accelerate the application of transformation in sugarcane, it is necessary and urgent to identify endogenous reference genes for transgenic sugarcane detection. Different molecular techniques such as Southern blotting [10], multiplex probe amplification and hybridization and microarray a ...
You Light Up My Life
You Light Up My Life

... • Type AB - Both glyocolipids A & B • Type O - Neither glyocolipid A nor B ...
Review Article
Review Article

... although at a lower frequency (Weiss & Falkow, 1984; Stibitz et al., 1989). These two processes form the main subjects of this review. The expression of AGGs 2 and 3 may be regulated by either of these processes but they can also be lost and regained independently of each other at frequencies of to ...
PowerPoint-Präsentation - European Bioinformatics Institute
PowerPoint-Präsentation - European Bioinformatics Institute

... higher and model organism • With Ensembl you can:  Retrieve all or part of a genome sequence  Perform sequence alignment using BLAST or BLAT  Link to genome annotation from microarray results  View expressed mRNA, protein, etc. in a chromosomal region  View variations such as SNPs across strain ...
oculocutaneous albinism and analysis of tyrosinase gene in
oculocutaneous albinism and analysis of tyrosinase gene in

... (extremities) but retains white hair in the warmer areas (scalp and axilla).2,7) A missense mutation in the tyrosinase gene of the patient introduces one amino acid replacement which changes the enzyme into a temperature-dependent one, ie, very low activity at 35'C and loss of activity above 35'C. 8 ...
Fragile x syndrome
Fragile x syndrome

... • Large-scale population studies of Fragile X still need to be done, but it is clear that this is one of the most common genetic diseases in humans. Most people with Fragile X are not yet correctly diagnosed. ...
Tasting Phenylthiocarbamide (PTC): A New Integrative
Tasting Phenylthiocarbamide (PTC): A New Integrative

... This master mix should be gently mixed by flicking with index finger, quickly microfuged, and dispensed in 43.5ul aliquots into PCR tubes. Each student should add 6.5ul of the supernatant from his/her DNA extraction tube to individual PCR tube of master mix. The PCR tubes containing the 50ul reactio ...
Press - APHA.com
Press - APHA.com

Mutations in an AP2 Transcription Factor
Mutations in an AP2 Transcription Factor

... Background: Plant height is an important agronomic trait that affects yield and tolerance to certain abiotic stresses. Understanding the genetic control of plant height is important for elucidating the regulation of maize development and has practical implications for trait improvement in plant bree ...
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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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