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Topic: Nonsense mutation

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	Nonsense mutation Summary
		Unless there is another mutation in a gene that codes for a transfer RNA (tRNA) that allows the suppression of a nonsense mutation, a premature termination of protein synthesis results in the manufacture and release of an incomplete (truncated) and usually nonfunctional protein fragment.
		As a result of this particular nonsense mutation, instead inserting the amino acid glutamine into the lengthening amino acid chain during the translation process, the instruction is interpreted as a stop command and the synthesis of the protein is terminated.
		Suppose that a nonsense mutation were introduced at the fourth triplet in the DNA sequence (CGA) causing the cytosine to be replaced with thymine, yielding TGA in the DNA sequence.
	www.bookrags.com /Nonsense_mutation (991 words)

	Point mutation article - Point mutation mutation nonsense mutations sickle-cell anemia hemoglobin gene - What-Means.com
		A point mutation is a type of mutation that causes the replacement of a single base pair with another pair.
		There are several types of point mutations, including nonsense mutations, missense mutations, and silent mutations.
		For example, sickle-cell anemia is caused by a single point mutation in the beta hemoglobin gene that converts a GAG codon into GTG, which encodes the amino acid valine rather than glutamic acid.
	www.what-means.com /encyclopedia/Point_mutation (108 words)

	Diabetes: A nonsense mutation in the inward rectifier pot... @ HighBeam Research (Site not responding. Last check: 2007-11-05)
		A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism.
		Mutations in other Kir subfamilies that are associated with disease include the murine G-protein-coupled inward rectifier [K.sup.+] channel Girk2 (Kir3.2), implicated in loss of cerebellar granule cell differentiation in weaver mice (27), and mutations in ROMK (Kir1.1), which are associated with Bartler's syndrome (28).
		Together, the identification of a nonsense mutation in the Kir6.2 gene in this study and the observation of a missense (L147P) mutation in a second HI proband (24) provide evidence for the association of a clinically significant phenotype in humans with mutations in a member of the Kir6.0 subfamily.
	www.highbeam.com /library/doc0.asp?DOCID=1G1:20060325&refid=ip_encyclopedia_hf (4003 words)

	PTC Therapeutics — Genetic Disorders: PTC124 (Site not responding. Last check: 2007-11-05)
		PTC124 is a novel, orally administered small-molecule compound that targets a particular genetic alteration known as a nonsense mutation.
		Nonsense mutations are alterations in the DNA that, when transcribed into mRNA, introduce a premature translation termination codon.
		It is estimated that, on average, 5-15% of patients with any of at least 1,800 distinct genetic disorders have a nonsense mutation as the underlying cause of the disease, including cystic fibrosis, Duchenne muscular dystrophy, spinal muscular atrophy, hemophilia, lysosomal storage disorders, retinitis pigmentosa, familial hypercholesterolemia and some forms of cancer.
	www.ptcbio.com /3.1.1_generic_disorders.aspx (982 words)

	Mutation - EvoWiki (Site not responding. Last check: 2007-11-05)
		Mutation is the ultimate source of variation on which natural selection acts.
		This held that mutations in the gene were what was selected for by natural selection, which allowed for new variation to be constantly added to a population.
		Nonsense Mutation: This is when a point mutation changes an amino acid codon into a "Stop" codon.
	www.evowiki.org /index.php/Mutation (1979 words)

	Nonsense mutation definition - Medical Dictionary definitions of popular medical terms
		Nonsense mutation: A mutation (a change) in a base in the DNA that prematurely stops the translation (reading) of messenger RNA (mRNA) resulting in a polypeptide chain that ends prematurely and a protein product that is truncated (abbreviated) and incomplete and usually nonfunctional.
		The nonsense mutation converts a codon (a triplet of bases) that encodes an amino acid into a stop codon, one that specifies the termination of translation.
		A nonsense codon is a stop codon which is out of place.
	www.medterms.com /script/main/art.asp?articlekey=4580 (191 words)

	Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene -- ... (Site not responding. Last check: 2007-11-05)
		Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.
		The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
		Mutational analysis of the MPZ, PMP22, and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
	jnnp.bmjjournals.com /cgi/content/full/70/2/232 (1797 words)

	A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype -- Beltrán-Valero ...
		A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype -- Beltrán-Valero de Bernabé et al.
		A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype
		Mutations found in FCMD patients are in blue, while the mutation found in WWS family 1 is in red.
	jmg.bmjjournals.com /cgi/content/full/40/11/845 (1543 words)

	Mutations
		Recessive mutations (most of them are) will not be seen except on the rare occasions that both parents contribute a mutation at the same locus to their child.
		The significance of mutations is profoundly influenced by the distinction between germline and soma.
		Whatever the effect, the ultimate fate of that somatic mutation is to disappear when the cell in which it occurred, or its owner, dies.
	users.rcn.com /jkimball.ma.ultranet/BiologyPages/M/Mutations.html (2842 words)

	Nonsense mutations in the human beta -globin gene lead to unexpected levels of cytoplasmic mRNA accumulation -- ...
		Premature nonsense codons decrease the stability of phytohemagglutinin mRNA in a position-dependent manner.
		A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro.
		-globin mRNAs that harbor a nonsense codon are degraded in murine erythroid tissues to intermediates that have a 5' cap-like structure.
	www.bloodjournal.org /cgi/content/full/96/8/2895 (4932 words)

	PTC Therapeutics
		It is anticipated that PTC124, by addressing the underlying cause of the disease, might decrease dependence on palliative interventions and ameliorate the debilitation and mortality in patients with genetic disorders due to nonsense mutations.
		Presence of a nonsense mutation in one of the alleles of the CFTR gene.
		Cystic fibrosis patients with nonsense mutations have abnormalities in the electrical difference measured by the TEPD test because they lack sufficient CFTR protein and thus have a defect in the movement of chloride ions across the cells (the chloride conductance).
	www.ptcbio.com /2.4_faqs.aspx (4857 words)

	A Nonsense Mutation in the Erythrocyte Band 3 Gene Associated with Decreased mRNA Accumulation in a Kindred with ...
		A Nonsense Mutation in the Erythrocyte Band 3 Gene Associated with Decreased mRNA Accumulation in a Kindred with Dominant Hereditary Spherocytosis -- Jenkins et al.
		A Nonsense Mutation in the Erythrocyte Band 3 Gene Associated with Decreased mRNA Accumulation in a Kindred with Dominant Hereditary Spherocytosis
		Palek (1995) Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis.
	www.jci.org /cgi/content/full/97/2/373 (4736 words)

	Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian ...
		Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family -- Neerman-Arbez et al.
		Mutation analysis was performed on DNA isolated from cultured amniocytes, and the fetus was found to be heterozygous for the
		Mutations in the fibrinogen alpha gene account for the majority of cases of congenital afibrinogenemia.
	www.bloodjournal.org /cgi/content/full/101/9/3492 (2346 words)

	A Myosin Missense Mutation, Not A Null Allele, Causes Familial Hypertrophic Cardiomyopathy -- Nishi et al. 91 (12): ...
		that the missense mutation, not the hybrid gene, was responsible
		for a missense mutation of the cardiac ß-MHC gene (Glu935Lys
		Missense mutations in the ß-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.
	circ.ahajournals.org /cgi/content/full/91/12/2911 (4007 words)

	A Nonsense Mutation in MLH1 Causes Exon Skipping in Three Unrelated HNPCC Families -- Stella et al. 61 (19): 7020 -- ... (Site not responding. Last check: 2007-11-05)
		A Nonsense Mutation in MLH1 Causes Exon Skipping in Three Unrelated HNPCC Families -- Stella et al.
		An AAG to TAG mutation at codon 461 within exon 12 is identified in mutant conformer as designated by an arrowhead (sequence shown as the antisense; data from other affected members of the three HNPCC families is not shown here).
		effect of a nonsense mutation on the exon skipping is incomplete.
	cancerres.aacrjournals.org /cgi/content/full/61/19/7020 (3798 words)

	A Nonsense Mutation of the Sodium Channel Gene SCN2A in a Patient with Intractable Epilepsy and Mental Decline -- ...
		A Nonsense Mutation of the Sodium Channel Gene SCN2A in a Patient with Intractable Epilepsy and Mental Decline -- Kamiya et al.
		Nonsense mutation of SCN2A identified in a Japanese patient with intractable childhood epilepsy and severe mental decline.
		R102X nonsense mutation identified in a patient with intractable childhood epilepsy and severe mental decline locates at the N terminus.
	www.jneurosci.org /cgi/content/full/24/11/2690 (6427 words)

	C-Terminal Truncated Dystrophin Identified in Skeletal Muscle of an Asymptomatic Boy with a Novel Nonsense Mutation of ... (Site not responding. Last check: 2007-11-05)
		with a nonsense mutation in the dystrophin gene.
		concluded that this mutation (C10873T) is the cause of the dystrophinopathy.
		Shiga N, Takeshima Y, Sakamoto H, Inoue K, Yokota Y, Yokoyama M, Matsuo M 1997 Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.
	www.pedresearch.org /cgi/content/full/56/5/739 (3495 words)

	In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients -- Grayson et al. 39 ...
		In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients -- Grayson et al.
		Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo
		An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene
	jmg.bmjjournals.com /cgi/content/full/39/1/62 (4683 words)

	A nonsense mutation in zebrafish gata1 causes the bloodless phenotype in vlad tepes -- Lyons et al. 99 (8): 5454 -- ...
		A nonsense mutation in zebrafish gata1 causes the bloodless phenotype in vlad tepes -- Lyons et al.
		A nonsense mutation in zebrafish gata1 causes the bloodless phenotype in vlad tepes
		Identification of a Nonsense Mutation in the gata1 Locus in vlt
	www.pnas.org /cgi/content/full/99/8/5454 (4358 words)

	A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2) -- ...
		A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2) -- Mårdh et al.
		The mutation leading to the amino acid change K53X is segregating with the disease in the family.
		4 Lench, N.J., Brook, A.H. and Winter, G.B. (1994) SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta (AIH1).
	hmg.oxfordjournals.org /cgi/content/full/11/9/1069 (2983 words)

	Microbial Genetics: Mutation
		A missence mutation is a nucleotide substitution that changes a codon so that it codes for a different amino acid in the protein.
		A nonsense mutation is the same as a missense mutation except the resulting codon codes for a STOP signal.
		Another type of mutation is a frameshift mutation which is caused by the insertion or a deletion of a base pair.
	plato.acadiau.ca /courses/biol/Microbiology/Mutation.htm (909 words)

	Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping -- Di Blasi et al. 124 ...
		The Lebanese allele at the low density lipoprotein receptor locus: nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum.
		Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.
		Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.
	brain.oxfordjournals.org /cgi/content/full/124/4/698 (3052 words)

	Cystic Fibrosis Foundation - Protein Rescue & Ion Transport Therapies
		A Phase 2 Trial of Oral PTC124 for Nonsense Mutation-Mediated CF Cystic fibrosis is caused by the loss of function of the CFTR protein, which normally transports chloride across cell membranes.
		Approximately 10 percent of the genetic mutations that result in CF are “stop” mutations that cause the production of shortened CFTR proteins with little or no function.
		Volunteers, who must have a proven CFTR nonsense mutation and be at least 18 years of age, will receive either a low- or high-dose regimen of PTC124 in an oral suspension 3 times daily for 28 days.
	www.cff.org /research/ClinicalResearch/ClinicalTrials/ProteinRescueIonTransportTherapies (484 words)

	Identification of a Novel Nonsense Mutation and a Missense Substitution in the Vasopressin-Neurophysin II Gene in Two ...
		Identification of a Novel Nonsense Mutation and a Missense Substitution in the Vasopressin-Neurophysin II Gene in Two Spanish Kindreds with Familial Neurohypophyseal Diabetes Insipidus -- Calvo et al.
		Identification of a Novel Nonsense Mutation and a Missense Substitution in the Vasopressin-Neurophysin II Gene in Two Spanish Kindreds with Familial Neurohypophyseal Diabetes Insipidus
		Partial sequence data of exon 3 of the AVP-NPII gene in A) a patient with FNDI from pedigree A, harboring a heterozygous nonsense mutation (G to T) in codon 82 of the NPII protein, resulting in a stop codon, compared to B) normal sequence from a healthy individual.
	jcem.endojournals.org /cgi/content/full/83/3/995 (2326 words)

	A Nonsense Mutation in the FMO3 Gene Underlies Fishy Off-Flavor in Cow's Milk -- Lundén et al. 12 (12): 1885 -- ...
		A Nonsense Mutation in the FMO3 Gene Underlies Fishy Off-Flavor in Cow's Milk -- Lundén et al.
		In the present material, the mutation was only observed among the SRB animals, but at a relatively high frequency.
		Dolphin, C.T., Janmohamed, A., Smith, R.L., Shepard, E.A., and Phillips, I.R. Missense mutation in flavin-containing monooxygenase 3 gene, FMO3, underlies fish-odour syndrome.
	www.genome.org /cgi/content/full/12/12/1885 (2757 words)

	Nonsense mutation -- Facts, Info, and Encyclopedia article (Site not responding. Last check: 2007-11-05)
		Despite an expected tendency for premature termination codons to yield shortened polypeptide products, in fact the formation of truncated proteins does not occur often in vivo.
		Many organisms -- including humans and lower species, such as (Any of various single-celled fungi that reproduce asexually by budding or division) yeast -- employ a nonsense-mediated mRNA decay pathway, which degrades mRNAs containing nonsense mutations before they are translated into nonfunctional polypeptides.
		Gatfield D, Unterholzner L, Ciccarelli FD, Bork P, Izaurralde E. "Nonsense-mediated mRNA decay in Drosophila: at the intersection of the yeast and mammalian pathways".
	www.absoluteastronomy.com /encyclopedia/n/no/nonsense_mutation.htm (241 words)

	University of Miami School of Medicine - Glossary - Nonsense mutation
		Nonsense mutation: A mutation (a change) in a base in the DNA that prematurely stops the translation (reading) of messenger RNA (mRNA) resulting in a polypeptide chain that ends prematurely and a protein product that is truncated (abbreviated) and incomplete and usually nonfunctional.
		A nonsense codon is a stop codon which is out of place.
		Catching such a defective messenger RNA (mRNA) before a truncated and potentially harmful protein is synthesized is the job of what is called the nonsense-mediated mRNA decay (NMD) pathway.
	www.med.miami.edu /glossary/art.asp?articlekey=4580 (153 words)

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