Belgrader, P, Cheng, J, Maquat, L E
The abundance of the mRNA for human triosephosphate isomerase (TPI) is decreased to 20-30% of normal by frameshift and nonsense mutations that prematurely terminate translation within the first...
Nesic, D, Zhang, J, Maquat, L E
Evidence exists from studies using intact cells that intron removal can be influenced by the reactivity of upstream and downstream splice sites and that cleavage and polyadenylation can be influenced...
mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.
Kinniburgh, A J, Maquat, L E, Schedl, T, Rachmilewitz, E, Ross, J
The beta-globin gene of a patient with mRNA-deficient beta o-thalassemia has been sequenced. We find a single nucleotide deletion in amino acid codon 44 that produces a UGA terminator at codon 60. We...
We have shown previously that a beta-globin RNA-deficient beta zero-thalassemia is caused by a single base-pair deletion in codon 44 of the human beta-globin gene1. The lack of beta-globin RNA in...
Maquat, L E, Kinniburgh, A J, Beach, L R, Honig, G R, Lazerson, J, Ershler, W B, ...
Nucleated bone marrow cells from normal individuals and from three patients with homozygous beta+-thalassemia were pulse-labeled with tritiated nucleosides. The processing of the newly synthesized...
Sequences within the last intron function in RNA 3'-end formation in cultured cells.
Nesic, D, Cheng, J, Maquat, L E
In cultured cells, little if any mRNA accumulates from an intronless version of the human gene for triosephosphate isomerase (TPI), a gene that normally contains six introns. By deleting introns...
Cheng, J, Fogel-Petrovic, M, Maquat, L E
The translation of human triosephosphate isomerase (TPI) mRNA normally terminates at codon 249 within exon 7, the final exon. Frameshift and nonsense mutations within the TPI gene that cause...
Premature translation termination mediates triosephosphate isomerase mRNA degradation.
We characterized an anemia-inducing mutation in the human gene for triosephosphate isomerase (TPI) that resulted in the production of prematurely terminated protein and mRNA with a reduced...
Brown, J R, Daar, I O, Krug, J R, Maquat, L E
The functional gene and three intronless pseudogenes for human triosephosphate isomerase were isolated from a recombinant DNA library and characterized in detail. The functional gene spans 3.5...
Synthesis of rat alpha 1-acid glycoprotein (AGP), one of the major inflammation-induced plasma proteins, is positively regulated by dexamethasone. To define the dexamethasone-responsive genetic...
Nonsense codons in human beta-globin mRNA result in the production of mRNA degradation products.
Lim, S K, Sigmund, C D, Gross, K W, Maquat, L E
Human beta zero-thalassemic beta-globin genes harboring either a frameshift or a nonsense mutation that results in the premature termination of beta-globin mRNA translation have been previously...
Daar, I O, Artymiuk, P J, Phillips, D C, Maquat, L E
Triose-phosphate isomerase (TPI; D-glyceraldehyde-3-phosphate ketol-isomerase, EC 5.3.1.1) deficiency is a recessive disorder that results in hemolytic anemia and neuromuscular dysfunction. To...
Lim, S, Mullins, J J, Chen, C M, Gross, K W, Maquat, L E
Mice that are transgenic for human beta zero-thalassemic beta-globin alleles were generated in order to study how beta zero-thalassemic mutations affect beta-globin RNA metabolism in erythroid...
Previous studies have demonstrated that nonsense codons within beta zero-thalassemic or in vitro-mutagenized human beta-globin transgenes result in the production of mRNAs that are degraded...
Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells.
Nonsense codons upstream of and including position 192 of the human gene for triosephosphate isomerase (TPI) have been found to reduce the abundance of TPI mRNA to approximately 25% of normal. The...
When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.
It appears that no organism is immune to the effects of nonsense codons on mRNA abundance. The study of how nonsense codons alter RNA metabolism is still at an early stage, and our current...
For most of the mammalian mRNAs that have been shown to be reduced in abundance by a nonsense or a frameshift mutation that generates a nonsense codon, reduction takes place while the mRNA is...
Zhang, J, Sun, X, Qian, Y, Maquat, L E
Generally, mRNAs that prematurely terminate translation are abnormally low in abundance. In the case of mammalian cells, nonsense codons most often mediate a reduction in the abundance of newly...
Pal, M, Ishigaki, Y, Nagy, E, Maquat, L E
Human Upf1 protein (p), a group 1 RNA helicase, has recently been shown to function in nonsense-mediated mRNA decay (NMD) in mammalian cells. Here, we demonstrate that the estimated 3 x 10(6) copies...
Nonsense-mediated decay (NMD), also called mRNA surveillance, is an evolutionarily conserved pathway that degrades mRNAs that prematurely terminate translation. To date, the pathway in mammalian...
Introns are cis effectors of the nonsense-codon-mediated reduction in nuclear mRNA abundance.
Cheng, J, Belgrader, P, Zhou, X, Maquat, L E
The translation of human triosephosphate isomerase (TPI) mRNA normally terminates at codon 249 within exon 7, the final exon. Frameshift and nonsense mutations of the type that cause translation to...
In an effort to understand the mechanisms by which nonsense codons affect RNA metabolism in mammalian cells, nonsense mutations were generated within the gene for the secretory major urinary protein...
Mammalian nonsense codons can be cis effectors of nuclear mRNA half-life.
Belgrader, P, Cheng, J, Zhou, X, Stephenson, L S, Maquat, L E
Frameshift and nonsense mutations within the gene for human triosephosphate isomerase (TPI) that generate a nonsense codon within the first three-fourths of the protein coding region have been found...
The abundance of the mRNA for human triosephosphate isomerase (TPI) is decreased to approximately 20% of normal by frameshift and nonsense mutations that cause translation to terminate at a nonsense...
When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.
It appears that no organism is immune to the effects of nonsense codons on mRNA abundance. The study of how nonsense codons alter RNA metabolism is still at an early stage, and our current...
Human triosephosphate isomerase deficiency resulting from mutation of Phe-240.
Chang, M L, Artymiuk, P J, Wu, X, Hollán, S, Lammi, A, Maquat, L E
Triosephosphate isomerase (TPI; D-glyceraldehyde-3-phosphate ketolisomerase [E.C.5.3.1.1]) deficiency is an autosomal recessive disorder that typically results in chronic, nonspherocytic hemolytic...
Belgrader, P, Cheng, J, Maquat, L E
The abundance of the mRNA for human triosephosphate isomerase (TPI) is decreased to 20-30% of normal by frameshift and nonsense mutations that prematurely terminate translation within the first...
Nesic, D, Zhang, J, Maquat, L E
Evidence exists from studies using intact cells that intron removal can be influenced by the reactivity of upstream and downstream splice sites and that cleavage and polyadenylation can be influenced...
mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.
Kinniburgh, A J, Maquat, L E, Schedl, T, Rachmilewitz, E, Ross, J
The beta-globin gene of a patient with mRNA-deficient beta o-thalassemia has been sequenced. We find a single nucleotide deletion in amino acid codon 44 that produces a UGA terminator at codon 60. We...
We have shown previously that a beta-globin RNA-deficient beta zero-thalassemia is caused by a single base-pair deletion in codon 44 of the human beta-globin gene1. The lack of beta-globin RNA in...
Maquat, L E, Kinniburgh, A J, Beach, L R, Honig, G R, Lazerson, J, Ershler, W B, ...
Nucleated bone marrow cells from normal individuals and from three patients with homozygous beta+-thalassemia were pulse-labeled with tritiated nucleosides. The processing of the newly synthesized...
Introns are cis effectors of the nonsense-codon-mediated reduction in nuclear mRNA abundance.
Cheng, J, Belgrader, P, Zhou, X, Maquat, L E
The translation of human triosephosphate isomerase (TPI) mRNA normally terminates at codon 249 within exon 7, the final exon. Frameshift and nonsense mutations of the type that cause translation to...
In an effort to understand the mechanisms by which nonsense codons affect RNA metabolism in mammalian cells, nonsense mutations were generated within the gene for the secretory major urinary protein...
Mammalian nonsense codons can be cis effectors of nuclear mRNA half-life.
Belgrader, P, Cheng, J, Zhou, X, Stephenson, L S, Maquat, L E
Frameshift and nonsense mutations within the gene for human triosephosphate isomerase (TPI) that generate a nonsense codon within the first three-fourths of the protein coding region have been found...
The abundance of the mRNA for human triosephosphate isomerase (TPI) is decreased to approximately 20% of normal by frameshift and nonsense mutations that cause translation to terminate at a nonsense...
Sequences within the last intron function in RNA 3'-end formation in cultured cells.
Nesic, D, Cheng, J, Maquat, L E
In cultured cells, little if any mRNA accumulates from an intronless version of the human gene for triosephosphate isomerase (TPI), a gene that normally contains six introns. By deleting introns...
Cheng, J, Fogel-Petrovic, M, Maquat, L E
The translation of human triosephosphate isomerase (TPI) mRNA normally terminates at codon 249 within exon 7, the final exon. Frameshift and nonsense mutations within the TPI gene that cause...
Premature translation termination mediates triosephosphate isomerase mRNA degradation.
We characterized an anemia-inducing mutation in the human gene for triosephosphate isomerase (TPI) that resulted in the production of prematurely terminated protein and mRNA with a reduced...
Brown, J R, Daar, I O, Krug, J R, Maquat, L E
The functional gene and three intronless pseudogenes for human triosephosphate isomerase were isolated from a recombinant DNA library and characterized in detail. The functional gene spans 3.5...
Synthesis of rat alpha 1-acid glycoprotein (AGP), one of the major inflammation-induced plasma proteins, is positively regulated by dexamethasone. To define the dexamethasone-responsive genetic...
Nonsense codons in human beta-globin mRNA result in the production of mRNA degradation products.
Lim, S K, Sigmund, C D, Gross, K W, Maquat, L E
Human beta zero-thalassemic beta-globin genes harboring either a frameshift or a nonsense mutation that results in the premature termination of beta-globin mRNA translation have been previously...
Daar, I O, Artymiuk, P J, Phillips, D C, Maquat, L E
Triose-phosphate isomerase (TPI; D-glyceraldehyde-3-phosphate ketol-isomerase, EC 5.3.1.1) deficiency is a recessive disorder that results in hemolytic anemia and neuromuscular dysfunction. To...
Lim, S, Mullins, J J, Chen, C M, Gross, K W, Maquat, L E
Mice that are transgenic for human beta zero-thalassemic beta-globin alleles were generated in order to study how beta zero-thalassemic mutations affect beta-globin RNA metabolism in erythroid...
Previous studies have demonstrated that nonsense codons within beta zero-thalassemic or in vitro-mutagenized human beta-globin transgenes result in the production of mRNAs that are degraded...
Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells.
Nonsense codons upstream of and including position 192 of the human gene for triosephosphate isomerase (TPI) have been found to reduce the abundance of TPI mRNA to approximately 25% of normal. The...
For most of the mammalian mRNAs that have been shown to be reduced in abundance by a nonsense or a frameshift mutation that generates a nonsense codon, reduction takes place while the mRNA is...
Zhang, J, Sun, X, Qian, Y, Maquat, L E
Generally, mRNAs that prematurely terminate translation are abnormally low in abundance. In the case of mammalian cells, nonsense codons most often mediate a reduction in the abundance of newly...
Pal, M, Ishigaki, Y, Nagy, E, Maquat, L E
Human Upf1 protein (p), a group 1 RNA helicase, has recently been shown to function in nonsense-mediated mRNA decay (NMD) in mammalian cells. Here, we demonstrate that the estimated 3 x 10(6) copies...
Nonsense-mediated decay (NMD), also called mRNA surveillance, is an evolutionarily conserved pathway that degrades mRNAs that prematurely terminate translation. To date, the pathway in mammalian...
When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.
It appears that no organism is immune to the effects of nonsense codons on mRNA abundance. The study of how nonsense codons alter RNA metabolism is still at an early stage, and our current...
Human triosephosphate isomerase deficiency resulting from mutation of Phe-240.
Chang, M L, Artymiuk, P J, Wu, X, Hollán, S, Lammi, A, Maquat, L E
Triosephosphate isomerase (TPI; D-glyceraldehyde-3-phosphate ketolisomerase [E.C.5.3.1.1]) deficiency is an autosomal recessive disorder that typically results in chronic, nonspherocytic hemolytic...