Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.

PubWeight™: 1.56‹?› | Rank: Top 4%

🔗 View Article (PMC 50904)

Published in Proc Natl Acad Sci U S A on February 01, 1991

Authors

G A Mitchell1, D Labuda, G Fontaine, J M Saudubray, J P Bonnefont, S Lyonnet, L C Brody, G Steel, C Obie, D Valle

Author Affiliations

1: Service de Génétique Médicale, Hôpital Ste-Justine, Montreal, Canada.

Articles citing this

Widespread A-to-I RNA editing of Alu-containing mRNAs in the human transcriptome. PLoS Biol (2004) 6.67

Alu-containing exons are alternatively spliced. Genome Res (2002) 5.45

AT-AC pre-mRNA splicing mechanisms and conservation of minor introns in voltage-gated ion channel genes. Mol Cell Biol (1999) 4.87

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. Am J Hum Genet (1996) 2.41

The birth of new exons: mechanisms and evolutionary consequences. RNA (2007) 1.72

Multiple dispersed loci produce small cytoplasmic Alu RNA. Mol Cell Biol (1993) 1.54

The subset of mouse B1 (Alu-equivalent) sequences expressed as small processed cytoplasmic transcripts. Nucleic Acids Res (1991) 1.35

Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am J Hum Genet (2002) 1.32

Transposable elements in disease-associated cryptic exons. Hum Genet (2009) 1.28

DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites. Nucleic Acids Res (2010) 1.16

Multifactorial interplay controls the splicing profile of Alu-derived exons. Mol Cell Biol (2008) 1.12

Alternative splicing of Alu exons--two arms are better than one. Nucleic Acids Res (2008) 1.11

A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. Am J Hum Genet (1998) 1.06

SERpredict: detection of tissue- or tumor-specific isoforms generated through exonization of transposable elements. BMC Genet (2007) 1.05

Exonization of AluYa5 in the human ACE gene requires mutations in both 3' and 5' splice sites and is facilitated by a conserved splicing enhancer. Nucleic Acids Res (2005) 1.02

Identification of splicing silencers and enhancers in sense Alus: a role for pseudoacceptors in splice site repression. Mol Cell Biol (2005) 0.97

A trinucleotide repeat-associated increase in the level of Alu RNA-binding protein occurred during the same period as the major Alu amplification that accompanied anthropoid evolution. Mol Cell Biol (1995) 0.91

The impact of transposable elements in genome evolution and genetic instability and their implications in various diseases. Genomics Inform (2014) 0.89

Transposition of an Alu-containing element induced by DNA-advanced glycosylation endproducts. Proc Natl Acad Sci U S A (1993) 0.88

Transposable elements in Coffea (Gentianales: Rubiacea) transcripts and their role in the origin of protein diversity in flowering plants. Mol Genet Genomics (2008) 0.84

Present and future of antisense therapy for splicing modulation in inherited metabolic disease. J Inherit Metab Dis (2010) 0.83

Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous. J Med Genet (1994) 0.83

Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. Am J Hum Genet (1995) 0.80

IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD. Clin Immunol (2007) 0.80

Role of pseudoexons and pseudointrons in human cancer. Int J Cell Biol (2013) 0.79

Altering Genomic Integrity: Heavy Metal Exposure Promotes Transposable Element-Mediated Damage. Biol Trace Elem Res (2015) 0.78

Structural Variation of Alu Element and Human Disease. Genomics Inform (2016) 0.77

Inferring the expression variability of human transposable element-derived exons by linear model analysis of deep RNA sequencing data. BMC Genomics (2013) 0.76

Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient. JIMD Rep (2011) 0.76

Splice variant of mouse Stam2 mRNA in nervous and muscle tissue contains additional exon with stop codon within region coding for VHS domain. Croat Med J (2006) 0.76

Functional single nucleotide polymorphism-based association studies. Hum Genomics (2006) 0.75

Articles cited by this

DNA typing from single hairs. Nature (1988) 9.32

Identification of a chromosome 18q gene that is altered in colorectal cancers. Science (1990) 8.32

Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes. Nature (1983) 6.48

Automated DNA sequencing of the human HPRT locus. Genomics (1990) 5.92

A minimal intron length but no specific internal sequence is required for splicing the large rabbit beta-globin intron. Cell (1984) 5.37

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science (1985) 4.51

Scanning from an independently specified branch point defines the 3' splice site of mammalian introns. Nature (1989) 4.18

The organization of 3' splice-site sequences in mammalian introns. Genes Dev (1989) 3.74

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome. Proc Natl Acad Sci U S A (1990) 3.72

Cloning of decay-accelerating factor suggests novel use of splicing to generate two proteins. Nature (1987) 3.62

Human genome organization: Alu, lines, and the molecular structure of metaphase chromosome bands. Cell (1988) 3.54

Recombination at the human alpha-globin gene cluster: sequence features and topological constraints. Cell (1987) 3.21

A human rel proto-oncogene cDNA containing an Alu fragment as a potential coding exon. Oncogene (1989) 3.05

Insertion and/or deletion of many repeated DNA sequences in human and higher ape evolution. Proc Natl Acad Sci U S A (1986) 2.81

Signals for the selection of a splice site in pre-mRNA. Computer analysis of splice junction sequences and like sequences. J Mol Biol (1987) 2.54

The distribution of interspersed repetitive DNA sequences in the human genome. Genomics (1989) 2.29

Sequence conservation in Alu evolution. Nucleic Acids Res (1989) 2.14

Renaturation rate studies of a single family of interspersed repeated sequences in human deoxyribonucleic acid. Biochemistry (1981) 2.10

A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination. Cell (1987) 1.93

beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proc Natl Acad Sci U S A (1984) 1.92

Distribution and consensus of branch point signals in eukaryotic genes: a computerized statistical analysis. Nucleic Acids Res (1990) 1.66

Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene. J Biol Chem (1988) 1.56

Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes. Proc Natl Acad Sci U S A (1977) 1.56

Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements. J Clin Invest (1988) 1.44

Reversibility of IVS 2 missplicing in a mutant human beta-globin gene. J Biol Chem (1985) 1.40

Structure of the gene for human complement protein decay accelerating factor. J Immunol (1990) 1.07

An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina. J Clin Invest (1988) 1.05

Isolation and sequence analysis of a cDNA clone encoding the fifth complement component. J Biol Chem (1985) 0.96

Articles by these authors

The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med (1997) 13.96

Online Mendelian Inheritance in Man (OMIM). Hum Mutat (2000) 7.54

Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. Br Heart J (1994) 7.54

Genome fingerprinting by simple sequence repeat (SSR)-anchored polymerase chain reaction amplification. Genomics (1994) 6.40

The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet (1995) 5.83

Human disease genes. Nature (2001) 5.31

Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta (1994) 4.93

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet (1997) 4.92

Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays. Nat Genet (1999) 4.79

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet (2006) 4.64

The skipping of constitutive exons in vivo induced by nonsense mutations. Science (1993) 4.41

Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis. Nat Genet (1996) 4.19

Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet (2007) 4.13

SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet (1998) 3.82

Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. J Am Coll Cardiol (1997) 3.64

Clinical features of 52 neonates with hyperinsulinism. N Engl J Med (1999) 3.35

Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature (1994) 3.33

Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr (1997) 3.14

Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med (1990) 3.09

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet (1989) 2.98

Risk of childhood leukemia associated with exposure to pesticides and with gene polymorphisms. Epidemiology (1999) 2.85

The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nat Genet (1996) 2.82

Practical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal Ed (2000) 2.70

Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nat Genet (1994) 2.66

Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women. N Engl J Med (1990) 2.65

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nat Genet (1995) 2.62

Mutant WD-repeat protein in triple-A syndrome. Nat Genet (2000) 2.54

Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. Neurology (2002) 2.53

Alu sequences in the coding regions of mRNA: a source of protein variability. Trends Genet (1994) 2.49

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest (1990) 2.46

Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. Am J Hum Genet (1995) 2.42

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation. J Med Genet (2009) 2.37

Evidence of apoptosis in arrhythmogenic right ventricular dysplasia. N Engl J Med (1996) 2.37

Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet (2001) 2.32

The APCI1307K allele and cancer risk in a community-based study of Ashkenazi Jews. Nat Genet (1998) 2.32

A unified nomenclature for peroxisome biogenesis factors. J Cell Biol (1996) 2.25

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet (2005) 2.24

The breast cancer information core: database design, structure, and scope. Hum Mutat (2000) 2.19

Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. Nat Genet (1992) 2.16

Peroxisome biogenesis disorders: genetics and cell biology. Trends Genet (2000) 2.16

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet (1997) 2.13

Arrhythmogenic right ventricular dysplasia/cardiomyopathy: a review. Pacing Clin Electrophysiol (1995) 2.10

BRCA1 interacts with components of the histone deacetylase complex. Proc Natl Acad Sci U S A (1999) 2.10

Proline oxidase, encoded by p53-induced gene-6, catalyzes the generation of proline-dependent reactive oxygen species. Cancer Res (2001) 2.05

The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. Am J Hum Genet (1999) 2.03

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet (1996) 2.01

Standardized nomenclature for Alu repeats. J Mol Evol (1996) 2.00

Ethiopia: between Sub-Saharan Africa and western Eurasia. Ann Hum Genet (2005) 1.98

Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis. Prenat Diagn (2001) 1.95

Evolutionary sequence comparisons using high-density oligonucleotide arrays. Nat Genet (1998) 1.90

Estimating the age of rare disease mutations: the example of Triple-A syndrome. J Med Genet (2004) 1.82

Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant. J Pediatr (1992) 1.82

Discovery of very-high-energy gamma-rays from the Galactic Centre ridge. Nature (2006) 1.81

Expression of PEX11beta mediates peroxisome proliferation in the absence of extracellular stimuli. J Biol Chem (1998) 1.81

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet (2005) 1.80

Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role. Histopathology (1998) 1.78

Encircling endocardial ventriculotomy: a new surgical treatment for life-threatening ventricular tachycardias resistant to medical treatment following myocardial infarction. Ann Thorac Surg (1978) 1.77

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci U S A (2000) 1.76

Relationship between 2'-hydroxyls and magnesium binding in the hammerhead RNA domain: a model for ribozyme catalysis. Biochemistry (1991) 1.75

CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics (1989) 1.70

Genetic structure of the ancestral population of modern humans. J Mol Evol (1998) 1.70

[Electrocardiology of 4 cases of right ventricular dysplasia inducing arrhythmia]. Arch Mal Coeur Vaiss (1978) 1.69

Reverse transcriptase activity from human embryonal carcinoma cells NTera2D1. EMBO J (1990) 1.68

Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians. Am J Hum Genet (1996) 1.68

CHARGE syndrome: report of 47 cases and review. Am J Med Genet (1998) 1.68

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet (2000) 1.68

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Hum Mutat (2010) 1.67

Considerations for designing a prototype genetic test for use in translational research. Public Health Genomics (2009) 1.67

Radio imaging of the very-high-energy gamma-ray emission region in the central engine of a radio galaxy. Science (2009) 1.66

Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. J Inherit Metab Dis (2012) 1.66

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France. Am J Hum Genet (1988) 1.66

Predictors of in-hospital mortality after DC catheter ablation of atrioventricular junction. Results of a prospective, international, multicenter study. Circulation (1991) 1.64

Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest (1997) 1.64

Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis (1999) 1.63

Long-range regulation at the SOX9 locus in development and disease. J Med Genet (2009) 1.62

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. J Med Genet (2000) 1.62

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. EMBO J (1996) 1.62

Survival after breast cancer in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (1999) 1.61

A compact system of small planets around a former red-giant star. Nature (2011) 1.60

Alu RNA secondary structure consists of two independent 7 SL RNA-like folding units. J Biol Chem (1991) 1.60

Phylogenetic and familial estimates of mitochondrial substitution rates: study of control region mutations in deep-rooting pedigrees. Am J Hum Genet (2001) 1.59

Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry. Study Group on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy of the Working Groups on Myocardial and Pericardial Disease and Arrhythmias of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the World Heart Federation. Circulation (2000) 1.59

Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest (1998) 1.58

Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation (1999) 1.57

Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene. J Biol Chem (1988) 1.56

Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes. Proc Natl Acad Sci U S A (1977) 1.56

Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia. Pediatrics (2001) 1.53

The gene for incontinentia pigmenti is assigned to Xq28. Genomics (1989) 1.52

Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency. J Pediatr (1993) 1.52

Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. J Biol Chem (1992) 1.51