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1 Gesteland, Raymond F.; Atkins, John F.; Felden, Brice; McCutcheon, John P.Probing the structure of the Escherichia coli 10Sa RNA (tmRNA)The conformation of the Escherichia coli 10Sa RNA (tmRNA) in solution was investigated using chemical and enzymatic probes. Single- and double-stranded domains were identified by hydrolysis of tmRNA in imidazole buffer and by lead(II)-induced cleavages. Ribonucleases T1 and S1 were used to map unpai...Covariation; Pseudoknot; Structural Probing; 10Sa RNA; tmRNA1997
2 Rogers, Alan R.How much can fossils tell us about regional continuity?Presents a study on the genetic contribution of earlier populations to later populations within regions called regional continuity. Testing for regional continuity with multiple characters; Replacement of archaic population by a population of modern humans.Human genetics; Fossils; Regional continuity2006-06-05
3 Jorde, Lynn B.Clinical and biochemical function of polymorphic NR0B1 GGAA-microsatellites in Ewing sarcoma: A report from the Childrens Oncology GroupBackground: The genetics involved in Ewing sarcoma susceptibility and prognosis are poorly understood. EWS/FLI and related EWS/ETS chimeras upregulate numerous gene targets via promoter-based GGAA-microsatellite response elements. These microsatellites are highly polymorphic in humans, and prelimina...2014-01-01
4 Capecchi, Mario R.Lack of angiotensin II-facilitated erythropoiesis causes anemia in angiotensin-converting enzyme-deficient miceWhile nephrologists often observe reduced hematocrit associated with inhibitors of angiotensin-converting enzyme (ACE), the basis for this effect is not well understood. We now report that two strains of ACE knockout mice have a normocytic anemia associated with elevated plasma erythropoietin levels...ACE2000-10-31
5 Capecchi, Mario R.Male fertility is dependent on dipeptidase activity of testis ACE.Testis angiotensin-converting enzyme (ACE) is an isozyme exclusively expressed by developing sperm. This protein has only a single catalytic domain containing the HEXXH consensus-site motif typical of zinc metallopeptidases. The exact role of testis ACE is unknown, but male mice lacking the protein ...Amino Acid Motifs; Blotting, Western; Catalytic Domain; Comparative Study; Isoenzymes; Protein Structure, Tertiary2005-11-11
6 Gesteland, Raymond F.; Krapcho, Karen J.; Talbot, Phil; Thulin, CraigCrystallization of the MS2 translational repressor alone and complexed to bromouridineThe coat protein from the MS2 bacteriophage plays a dual role by encapsidating viral RNA and also by binding RNA as a translational repressor. In order to study the isolated dimer in a conformation not influenced by capsid interactions, a mutant molecule was crystallized that is defective in capsid ...Crystallization; RNA Bacteriophage; RNA Hairpin; Translational Repressor1995
7 Rogers, Alan R.; Harpending, Henry C.Genetic structure of ancient human populationsDiscusses mitochondrial DNA (mtDNA) sequences as important source of data about the history of human species.Tree of descent; Mismatch distributions; Simulations; Findings; Intermatch distributions; Younger and older populations2001-09-15
8 Gesteland, Raymond F.; Wills, Norma M.; Atkins, John F.Comparative studies of frameshifting and nonframeshifting RNA pseudoknots: a mutational and NMR investigation of pseudoknots derived from the bacteriophage T2 gene 32 mRNA and the retroviral gag-pro frameshift siteMutational and NMR methods were used to investigate features of sequence, structure, and dynamics that are associated with the ability of a pseudoknot to stimulate a "1 frameshift. In vitro frameshift assays were performed on retroviral gag-pro frameshift-stimulating pseudoknots and their derivati...Frameshifting; NMR; Pseudoknot; Retrovirus2002
9 Rogers, Alan R.; Jorde, Lynn B.Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic dataTo test hypotheses about the origin of modern humans, we analyzed mtDNA sequences, 30 nuclear restriction-site polymorphisms (RSPs), and 30 tetranucleotide short tandem repeat (STR) polymorphisms in 243 Africans, Asians, and Europeans. An evolutionary tree based on mtDNA displays deep African branch...Base Sequence; Variation (Genetics); Base Sequence1995
10 Gesteland, Raymond F.; Atkins, John F.Frameshifting in gene 10 of bacteriophage T7Gene 10 of bacteriophage T7, which encodes the most abundant capsid protein, has two products: a major product, 10A (36 kDa), and a minor product, 10B (41 kDa). 10B is produced by frameshifting into the -1 frame near the end of the 10A coding frame and is incorporated into the capsid. The frameshift...Frameshifting; Bacteriophage T7; RNA, Viral; Gene Expression1991
11 Capecchi, Mario R.Removing the vertebrate-specific TBP N terminus disrupts placental beta2m-dependent interactions with the maternal immune systemMammalian TBP consists of a 180 amino acid core that is common to all eukaryotes, fused to a vertebrate-specific N-terminal domain. We generated mice having a modified tbp allele, tbp(DeltaN), that produces a version of TBP lacking 111 of the 135 vertebrate-specific amino acids. Most tbp(DeltaN/Delt...Alleles; Animals, Genetically Modified; Binding Sites; Embryonic and Fetal Development; Evolution, Molecular; Female; Fetus; Immune Tolerance; Male; Mice; Mutation; ATA-Box Binding Protein2002-07-12
12 Capecchi, Mario R.Fundamental cellular processes do not require vertebrate-specific sequences within the TATA-binding protein.The 180-amino acid core of the TATA-binding protein (TBPcore) is conserved from Archae bacteria to man. Vertebrate TBPs contain, in addition, a large and highly conserved N-terminal region that is not found in other phyla. We have generated a line of mice in which the tbp allele is replaced with a v...Mice, Knockout; Cells, Cultured; Fibroblasts; Embryo2003-02-21
13 Capecchi, Mario R.; Tvrdik, PetrHoxb1 functions in both motoneurons and in tissues of the periphery to establish and maintain the proper neuronal circuitry.Formation of neuronal circuits in the head requires the coordinated development of neurons within the central nervous system (CNS) and neural crest-derived peripheral target tissues. Hoxb1, which is expressed throughout rhombomere 4 (r4), has been shown to be required for the specification of facial...Rhombomere 4; Branchiomotor; Cranial Nerve2004-07-04
14 Eichwald, Ernst; Capecchi, Mario R.; Thomas, Kirk R.Mouse model for the delta F508 allele of cystic fibrosisThe most common cause of cystic fibrosis is a mutation that deletes phenylalanine 508 in cystic fibrosis transmembrane conductance regulator (CFTR). The delta F508 protein is misprocessed and degraded rather than traveling to the apical membrane. We used a novel strategy to introduce the delta F508 ...Digestive System; Disease Models, Animal; Electrolytes; Mice, Inbred C57BL1995-10
15 Gesteland, Raymond F.; Baranov, Pavel V.; Atkins, John F.; Hammer, Andrew W.Transcriptional slippage in bacteria: distribution in sequenced genomes and utilization in IS element gene expressionABSTRACT: Background: Transcription slippage occurs on certain patterns of repeat mononucleotides, resulting in synthesis of a heterogeneous population of mRNAs. Individual mRNA molecules within this population differ in the number of nucleotides they contain that are not specified by the templat...Transcription slippage; Bacterial genomes; IS element genes2005
16 Lopansri, Bert; Stoddard, Gregory J.; Hobbs, Maurine R.; Granger, Donald LeeElevated plasma phenylalanine in severe malaria and implications for pathophysiology of neurological complications.Cerebral malaria is associated with decreased production of nitric oxide and decreased levels of its precursor, l-arginine. Abnormal amino acid metabolism may thus be an important factor in malaria pathogenesis. We sought to determine if other amino acid abnormalities are associated with disease sev...Dystonia; Phenylalanine Hydroxylase; Tyrosine2006-06-01
17 Capecchi, Mario R.Purification and characterization of mouse hypoxanthine-guanine phosphoribosyltransferase.Hypoxanthine-guanine phosphoribosyltransferase (HGPR transferase) (EC 2.4.2.8) has been purified approximately 4500-fold to apparent homogeneity from mouse liver. The procedure involves the use of affinity chromatography and was designed to be readily adaptable to small scale isolations. The enzyme ...Buffers; Centrifugation, Density Gradient; Chromatography, Affinity; Chromatography, Gel; Chromatography, Ion Exchange; Electrophoresis, Polyacrylamide Gel1975-01-31
18 Rogers, Alan R.; Jorde, Lynn B.Ascertainment bias in estimates of average heterozygosityPopulation geneticists work with a nonrandom sample of the human genome. Conventional practice ensures that unusually variable loci are most likely to be discovered and thus included in the sample of loci. Consequently, estimates of average heterozygosity are biased upward. In what follows we descri...Bias (Epidemiology); Biometry; Heterozygote1996-05
19 Hansen, Mark S.; Healy, Lindsey J.; Johnson, Christopher R.; Capecchi, Mario R.; Keller, Charles; Jones, Greg M.Virtual histology of transgenic mouse embryos for high-throughput phenotyping.A bold new effort to disrupt every gene in the mouse genome necessitates systematic, interdisciplinary approaches to analyzing patterning defects in the mouse embryo. We present a novel, rapid, and inexpensive method for obtaining high-resolution virtual histology for phenotypic assessment of mouse ...Forkhead Transcription Factors; Paired Box Transcription Factors2006
20 Gesteland, Raymond F.; Letsou, Anthea; Ivanov, Ivaylo P.; Simin, Karl; Atkins, John F.Drosophila gene for antizyme requires ribosomal frameshifting for expression and contains an intronic gene for snRNP Sm D3 on the opposite strandPreviously, a Drosophila melanogaster sequence with high homology to the sequence for mammalian antizyme (ornithine decarboxylase antizyme) was reported. The present study shows that homology of this coding sequence to its mammalian antizyme counterpart also extends to a 5* open reading frame (ORF...Ornithine decarboxylase antizyme; Binding proteins1998
21 Capecchi, Mario R.Duplication of the Hoxd11 gene causes alterations in the axial and appendicular skeleton of the mouse.The Hox genes encode a group of transcription factors essential for proper development of the mouse. Targeted mutation of the Hoxd11 gene causes reduced male fertility, vertebral transformation, carpal bone fusions, and reductions in digit length. A duplication of the Hoxd11 gene was created with th...Animals; Bone Development; Forelimb; Gene Expression Regulation, Developmental2002-09-01
22 Capecchi, Mario R.Hoxb13 mutations cause overgrowth of caudal spinal cord and tail vertebraeTo address the expression and function of Hoxb13, the 5' most Hox gene in the HoxB cluster, we have generated mice with loss-of-function and beta-galactosidase reporter insertion alleles of this gene. Mice homozygous for Hoxb13 loss-of-function mutations show overgrowth in all major structures deriv...Animals; Axons; Ganglia, Spinal; Mice; Spinal Cord2003-04-15
23 Capecchi, Mario R.Targeted disruption of the even-skipped gene, evx1, causes early postimplantation lethality of the mouse conceptus.Implantation within the mammalian uterus elicits dramatic changes in the growth, differentiation, and morphogenesis of the conceptus. This process is interrupted in mice carrying a targeted disruption of the murine evx1 gene, a homolog of the Drosophila even-skipped (eve) gene. Upon implantation, pr...Extraembryonic; Homozygotes; Drosophila1994-08-15
24 Capecchi, Mario R.Yeast super-suppressors are altered tRNAs capable of translating a nonsense codon in vitro.tRNA isolated from two different yeast super-suppressor strains translates a known nonsense mutation in vitro, whereas tRNA from a closely related nonsuppressing strain does not. Suppression was assayed by translation of RNA isolated from an amber coat mutant of bacteriophage Qbeta (GB11) in a prote...Codon; Escherichia coli; Protein Biosynthesis1975-11
25 Digre, Kathleen B.; Gouw, Launce G.; Harris, Catherine P.; Haines, John H.; Ptacek, L.J.Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred.The autosomal dominant cerebellar ataxias (ADCA) comprise a heterogeneous group of neurologic disorders characterized by degeneration of the cerebellum, spinal cord, and brainstem. Genetic analysis has revealed two loci, SCA1 on chromosome 6p, and SCA2 on chromosome 12q, responsible for some ADCA. W...Retinal Degeneration; Cerebellar Ataxia; Genetic Analysis1994-08
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