NDLI: Hot spot mutations in adenosine deaminase deficiency.

Please wait, while we are loading the content...

Year: 2017 Volume: 114

Year: 2016 Volume: 113

Year: 2015 Volume: 112

Year: 2014 Volume: 111

Year: 2013 Volume: 110

Year: 2012 Volume: 109

Year: 2011 Volume: 108

Year: 2010 Volume: 107

Year: 2009 Volume: 106

Year: 2008 Volume: 105

Year: 2007 Volume: 104

Year: 2006 Volume: 103

Year: 2005 Volume: 102

Year: 2004 Volume: 101

Year: 2003 Volume: 100

Year: 2002 Volume: 99

Year: 2001 Volume: 98

Year: 2000 Volume: 97

Year: 1999 Volume: 96

Year: 1998 Volume: 95

Year: 1997 Volume: 94

Year: 1996 Volume: 93

Year: 1995 Volume: 92

Year: 1994 Volume: 91

Year: 1993 Volume: 90

Year: 1992 Volume: 89

Year: 1991 Volume: 88

Year: 1990 Volume: 87

Year: 1990 Volume: 87 Issue: 24

Year: 1990 Volume: 87 Issue: 23

Year: 1990 Volume: 87 Issue: 22

Year: 1990 Volume: 87 Issue: 21

Year: 1990 Volume: 87 Issue: 20

Year: 1990 Volume: 87 Issue: 19

Year: 1990 Volume: 87 Issue: 18

Year: 1990 Volume: 87 Issue: 17

Year: 1990 Volume: 87 Issue: 16

Disruptive sexual selection in Colias eurytheme butterflies.

A human cellular sequence implicated in trk oncogene activation is DNA damage inducible.

Molecular analysis of the hydrogenosomal ferredoxin of the anaerobic protist Trichomonas vaginalis.

Priming of CD4+ T cells specific for conserved regions of human immunodeficiency virus glycoprotein gp120 in humans immunized with a recombinant envelope protein.

Positive control of a global antioxidant defense regulon activated by superoxide-generating agents in Escherichia coli.

A simple ordering of neocortical areas established by the compartmental organization of their striatal projections.

Purification and partial characterization of a cellular inhibitor of the interferon-induced protein kinase of Mr 68,000 from influenza virus-infected cells.

Yeast K1 killer toxin forms ion channels in sensitive yeast spheroplasts and in artificial liposomes.

Molecular cloning and protein structure of a human blood group Rh polypeptide.

Activation of the heat shock transcription factor by hypoxia in mammalian cells.

Drosophila homolog of the mammalian jun oncogene is expressed during embryonic development and activates transcription in mammalian cells.

Microsomal and cytosolic fractions of guinea pig hepatocytes contain 100-kilodalton GTP-binding proteins reactive with antisera against alpha subunits of stimulatory and inhibitory heterotrimeric GTP-binding proteins.

Colocalization of galanin and luteinizing hormone-releasing hormone in a subset of preoptic hypothalamic neurons: anatomical and functional correlates.

Patterns of expression of position-dependent integrated transgenes in mouse embryo.

Genes for Plasmodium falciparum surface antigens cloned by expression in COS cells.

Quantitative determination that one of two potential RNA-binding domains of the A protein component of the U1 small nuclear ribonucleoprotein complex binds with high affinity to stem-loop II of U1 RNA.

Spatial differentiation of the intestinal epithelium: analysis of enteroendocrine cells containing immunoreactive serotonin, secretin, and substance P in normal and transgenic mice.

Structural analysis of the Hox-3.1 transcription unit and the Hox-3.2--Hox-3.1 intergenic region.

Modulation of the N-methyl-D-aspartate channel by extracellular H+.

Influenza virus hemagglutinin-specific antibodies isolated from a combinatorial expression library are closely related to the immune response of the donor.

The epidermal growth factor receptor and the product of the neu protooncogene are members of a receptor tyrosine phosphorylation cascade.

Haplotype of multiple polymorphisms resolved by enzymatic amplification of single DNA molecules.

Molecular mass, biochemical composition, and physicochemical behavior of the infectious form of the scrapie precursor protein monomer.

The 60- to 90-kDa parietal cell autoantigen associated with autoimmune gastritis is a beta subunit of the gastric H+/K(+)-ATPase (proton pump).

Listeria monocytogenes moves rapidly through the host-cell cytoplasm by inducing directional actin assembly.

Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient patients.

Cortical functional architecture and local coupling between neuronal activity and the microcirculation revealed by in vivo high-resolution optical imaging of intrinsic signals.

Preferential utilization of conserved immunoglobulin heavy chain variable gene segments during human fetal life.

PC12 cells differentiate into chromaffin cell-like phenotype in coculture with adrenal medullary endothelial cells.

Positive selection of transgenic receptor-bearing thymocytes by Kb antigen is altered by Kb mutations that involve peptide binding.

Site-directed mutagenesis of a catabolite repression operator sequence in Bacillus subtilis.

Selective incorporation of (15S)-hydroxyeicosatetraenoic acid in phosphatidylinositol of human neutrophils: agonist-induced deacylation and transformation of stored hydroxyeicosanoids.

Thymus: a direct target tissue in graft-versus-host reaction after allogeneic bone marrow transplantation that results in abrogation of induction of self-tolerance.

Complete sequence of the Drosophila nonmuscle myosin heavy-chain transcript: conserved sequences in the myosin tail and differential splicing in the 5' untranslated sequence.

In vitro incorporation of selenium into tRNAs of Salmonella typhimurium.

Octyl glucoside extracts GTP-binding regulatory proteins from rat brain 'synaptoneurosomes' as large, polydisperse structures devoid of beta gamma complexes and sensitive to disaggregation by guanine nucleotides.

Early events in hepatitis C virus infection of chimpanzees.

Purification and characterization of cytolytic and noncytolytic human natural killer cell subsets.

Negative growth regulation in a glioblastoma tumor cell line that conditionally expresses human wild-type p53.

Hypothesis: lipoprotein(a) is a surrogate for ascorbate.

Mechanism for cryptic splice site activation during pre-mRNA splicing.

Biosynthesis of selenium-modified tRNAs in Methanococcus vannielii.

Regulation of interleukin 2-driven T-lymphocyte proliferation by prolactin.

Broad spectrum of in vivo forward mutations, hypermutations, and mutational hotspots in a retroviral shuttle vector after a single replication cycle: deletions and deletions with insertions.

Cloning and expression of rat liver CTP: phosphocholine cytidylyltransferase: an amphipathic protein that controls phosphatidylcholine synthesis.

Mutational analysis of the N terminus of the protein of maize transposable element Ac.

In vitro maturation and encapsidation of the DNA of transposable Mu-like phage D108.

Signal transduction by the epidermal growth factor receptor after functional desensitization of the receptor tyrosine protein kinase activity.

Cloning and expression of a widely expressed receptor tyrosine phosphatase.

Complementary DNA cloning of a receptor for tumor necrosis factor and demonstration of a shed form of the receptor.

Hot spot mutations in adenosine deaminase deficiency.

Role of early genes in pathogenesis of adenovirus pneumonia.

Expression of melatonin receptors in arteries involved in thermoregulation.

Probe mapping to facilitate transposon-based DNA sequencing.

Molecular cloning of cDNA encoding a second cellular retinoic acid-binding protein.

Xenobiotic-inducible expression of murine glutathione S-transferase Ya subunit gene is controlled by an electrophile-responsive element.

Alpha 1-adrenergic receptor mRNA level is regulated by norepinephrine in rabbit aortic smooth muscle cells.

DNA metabolism gene CDC7 from yeast encodes a serine (threonine) protein kinase.

Escherichia coli helicase II (UvrD) protein initiates DNA unwinding at nicks and blunt ends.

Maximizing the natriuretic effect of endogenous atriopeptin in a rat model of heart failure.

1 alpha,25-dihydroxyvitamin D3 regulates the expression of carbonic anhydrase II in nonerythroid avian bone marrow cells.

Broad spectrum of in vivo forward mutations, hypermutations, and mutational hotspots in a retroviral shuttle vector after a single replication cycle: substitutions, frameshifts, and hypermutations.

Molecular characterization of the GCN4-DNA complex.

Single d(ApG)/cis-diamminedichloroplatinum(II) adduct-induced mutagenesis in Escherichia coli.

Isolation and characterization of a Chinese hamster ovary cell line deficient in fatty alcohol:NAD+ oxidoreductase activity.

Tissue-specific expression and methylation of a thyroglobulin-chloramphenicol acetyltransferase fusion gene in transgenic mice.

Mapping small DNA sequences by fluorescence in situ hybridization directly on banded metaphase chromosomes.

Genetic evidence for an interaction between SIR3 and histone H4 in the repression of the silent mating loci in Saccharomyces cerevisiae.

Human immunodeficiency virus type 1 protease cleaves the intermediate filament proteins vimentin, desmin, and glial fibrillary acidic protein.

Evolution of spatial cognition: sex-specific patterns of spatial behavior predict hippocampal size.

cDNA sequence analysis of a 29-kDa cysteine-rich surface antigen of pathogenic Entamoeba histolytica.

Cooperation between two growth factors promotes extended self-renewal and inhibits differentiation of oligodendrocyte-type-2 astrocyte (O-2A) progenitor cells.

Peptides on phage: a vast library of peptides for identifying ligands.

Isolation and expression of rat liver sepiapterin reductase cDNA.

An endogenous lectin and one of its neuronal glycoprotein ligands are involved in contact guidance of neuron migration.

25-Hydroxyvitamin D3-1 alpha-hydroxylase in porcine hepatic tissue: subcellular localization to both mitochondria and microsomes.

Human homolog of the mouse sperm receptor.

Microtubules in the metaphase-arrested mouse oocyte turn over rapidly.

Preferential infection of CD4+ memory T cells by human immunodeficiency virus type 1: evidence for a role in the selective T-cell functional defects observed in infected individuals.

Juxtaposition of expressed variable antigen genes with a conserved telomere in the bacterium Borrelia hermsii.

De novo methylation of the MyoD1 CpG island during the establishment of immortal cell lines.

Cis-acting sequences from a human surfactant protein gene confer pulmonary-specific gene expression in transgenic mice.

Phylogeny and evolution of antlered deer determined from mitochondrial DNA sequences.

Expression of human factor IX in rabbit hepatocytes by retrovirus-mediated gene transfer: potential for gene therapy of hemophilia B.

Acetylcholine receptor-alpha-bungarotoxin interactions: determination of the region-to-region contacts by peptide-peptide interactions and molecular modeling of the receptor cavity.

Physical mapping of human chromosomes by repetitive sequence fingerprinting.

Evidence for neutral and selective processes in the recruitment of enzyme-crystallins in avian lenses.

Defective viral DNA ameliorates symptoms of geminivirus infection in transgenic plants.

Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor.

Plants transformed with a tobacco mosaic virus nonstructural gene sequence are resistant to the virus.

Physicochemical characterization of a polypeptide present in uremic serum that inhibits the biological activity of polymorphonuclear cells.

Origins of structure in globular proteins.

Differential cloning of genomic DNA: cloning of DNA with an altered primary structure by in-gel competitive reassociation.

Retroviral nucleocapsid protein-metal ion interactions: folding and sequence variants.

Molecular characteristics of recombinant human CD4 as deduced from polymorphic crystals.

Simulation of shape changes and adhesion phenomena in an elastic model of erythrocytes.

Year: 1990 Volume: 87 Issue: 15

Year: 1990 Volume: 87 Issue: 14

Year: 1990 Volume: 87 Issue: 13

Year: 1990 Volume: 87 Issue: 12

Year: 1990 Volume: 87 Issue: 11

Year: 1990 Volume: 87 Issue: 10

Year: 1990 Volume: 87 Issue: 9

Year: 1990 Volume: 87 Issue: 8

Year: 1990 Volume: 87 Issue: 7

Year: 1990 Volume: 87 Issue: 6

Year: 1990 Volume: 87 Issue: 5

Year: 1990 Volume: 87 Issue: 4

Year: 1990 Volume: 87 Issue: 3

Year: 1990 Volume: 87 Issue: 2

Year: 1990 Volume: 87 Issue: 1

Year: 1990 Volume: 87 Issue: Suppl

Year: 1989 Volume: 86

Year: 1988 Volume: 85

Year: 1987 Volume: 84

Year: 1986 Volume: 83

Year: 1985 Volume: 82

Year: 1984 Volume: 81

Year: 1983 Volume: 80

Year: 1982 Volume: 79

Year: 1981 Volume: 78

Year: 1980 Volume: 77

Year: 1979 Volume: 76

Year: 1978 Volume: 75

Year: 1977 Volume: 74

Year: 1976 Volume: 73

Year: 1975 Volume: 72

Year: 1974 Volume: 71

Year: 1973 Volume: 70

Year: 1972 Volume: 69

Year: 1971 Volume: 68

Year: 1970 Volume: 67

Year: 1970 Volume: 66

Year: 1970 Volume: 65

Year: 1969 Volume: 64

Year: 1969 Volume: 63

Year: 1969 Volume: 62

Year: 1968 Volume: 61

Year: 1968 Volume: 60

Year: 1968 Volume: 59

Year: 1967 Volume: 58

Year: 1967 Volume: 57

Year: 1966 Volume: 56

Year: 1966 Volume: 55

Hot spot mutations in adenosine deaminase deficiency.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Tzall, S. Hirschhorn, R. Ellenbogen, A.
Description	Author Affiliation: Hirschhorn R ( Department of Medicine, New York University Medical School, NY 10016.);
Abstract	We have previously characterized mutant adenosine deaminase (ADA; adenosine aminohydrolase, EC 3.5.4.4) enzymes in seven children with partial ADA deficiency. Six children shared common origins, suggesting a common progenitor. However, we found evidence for multiple phenotypically different mutant enzymes. We hypothesized that many of the mutations would be at CpG dinucleotides, hot spots at which spontaneous deamination of 5-methylcytosine results in C to T or G to A transitions. Digestion of DNA from these children with Msp I and Taq I, enzymes recognizing CpG dinucleotides, identified three different mutations, each correlating with expression of a different mutant enzyme. Sequencing of cDNA clones and genomic DNA amplified by polymerase chain reaction confirmed the presence of C to T or G to A transitions at CpG dinucleotides (C226 to T, G446 to A, and C821 to T, resulting in Arg76 to Trp, Arg149 to Gln, and Pro274 to Leu). A 'null' mutation, also found in two ADA-deficient severe combined immunodeficient children, was serendipitously detected as gain of a site for Msp I. Simultaneous loss of a site for Bal I defined the precise base substitution (T320 to C, Leu107 to Pro), confirmed by sequence analysis. To determine the true frequency of hot spot mutation in these children, consecutively ascertained through a newborn screening program, we sequenced cDNA from the remaining alleles. Two others were hot spot mutations (C631 to T and G643 to A, resulting in Arg211 to Cys and Ala215 to Thr), each again resulting in expression of a phenotypically different mutant enzyme. Only one additional mutation (previously identified by us) is not in a hot spot. These seven mutations account for all 14 chromosomes in these children. There is thus a very high frequency of hot spot mutations in partial ADA deficiency. Most of these children carry two different mutant alleles. We were able to correlate genotype and phenotype and to dissect the activity of individual mutant alleles.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	16
Volume Number	87
Language	English
Publisher	National Academy of Sciences
Publisher Date	1990-09-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Adenosine Deaminase Deficiency Mutation Nucleoside Deaminases Genetics Cell Line Cell Transformation, Viral DNA Isolation & Purification DNA Probes Dinucleoside Phosphates Gene Library Genotype Herpesvirus 4, Human Molecular Sequence Data Nucleic Acid Hybridization Phenotype Polymerase Chain Reaction Restriction Mapping Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

Central Library (ISO-9001:2015 Certified)
Indian Institute of Technology Kharagpur
Kharagpur, West Bengal, India | PIN - 721302

See location in the Map
03222 282435
Mail: support@ndl.gov.in

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in