Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype.

PubWeight™: 2.38‹?› | Rank: Top 2%

🔗 View Article (PMC 371617)

Published in J Clin Invest on December 01, 1980

Authors

S H Embury, J A Miller, A M Dozy, Y W Kan, V Chan, D Todd

Articles citing this

Alpha-thalassaemia. Orphanet J Rare Dis (2010) 2.40

Recombination within and between the human insulin and beta-globin gene loci. Proc Natl Acad Sci U S A (1983) 1.82

Melanesians and Polynesians share a unique alpha-thalassemia mutation. Am J Hum Genet (1985) 1.58

Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion. Proc Natl Acad Sci U S A (2006) 1.57

Differentiation of the mRNA transcripts originating from the alpha 1- and alpha 2-globin loci in normals and alpha-thalassemics. J Clin Invest (1981) 1.43

A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. J Clin Invest (1990) 1.41

Globin genes in Polynesians have many rearrangements including a recently described gamma gamma gamma gamma/. Am J Hum Genet (1986) 1.34

The molecular basis of alpha-thalassaemia in Thailand. EMBO J (1984) 1.30

Protection against malaria morbidity: near-fixation of the alpha-thalassemia gene in a Nepalese population. Am J Hum Genet (1991) 1.28

Processes of de novo duplication of human alpha-globin genes. Proc Natl Acad Sci U S A (2007) 1.26

Structural and evolutionary analysis of the two chimpanzee alpha-globin mRNAs. Nucleic Acids Res (1983) 1.23

The thalassemias: molecular mechanisms of human genetic disease. Am J Hum Genet (1983) 1.21

Two types of triplicated alpha-globin loci in humans. Nucleic Acids Res (1981) 1.19

Globin genes in Micronesia: origins and affinities of Pacific Island peoples. Am J Hum Genet (1990) 1.18

Effects of alpha-thalassemia and sickle polymerization tendency on the urine-concentrating defect of individuals with sickle cell trait. J Clin Invest (1991) 1.17

Polynesian origins and affinities: globin gene variants in eastern Polynesia. Am J Hum Genet (1987) 1.17

A molecular basis for discrete size variation in human ribosomal DNA. Am J Hum Genet (1985) 1.12

alpha-Thalassaemia associated with the deletion of two nucleotides at position -2 and -3 preceding the AUG codon. EMBO J (1985) 1.10

A novel rearrangement of the human beta-like globin gene cluster. Nucleic Acids Res (1981) 1.09

Extremely high frequencies of alpha-globin gene deletion in Madang and on Kar Kar Island, Papua New Guinea. Am J Hum Genet (1985) 1.06

Deletions in the alpha-globin gene complex in alpha-thalassemic mice. Proc Natl Acad Sci U S A (1981) 1.02

Compensatory increase in alpha 1-globin gene expression in individuals heterozygous for the alpha-thalassemia-2 deletion. J Clin Invest (1985) 1.00

Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG). J Clin Invest (1987) 0.96

Alpha-globin gene markers identify genetic differences between Australian aborigines and Melanesians. Am J Hum Genet (1990) 0.94

The molecular basis of α-thalassemia. Cold Spring Harb Perspect Med (2013) 0.92

Different hematologic phenotypes are associated with the leftward (-alpha 4.2) and rightward (-alpha 3.7) alpha+-thalassemia deletions. J Clin Invest (1987) 0.91

The William Allan Memorial Award address: Thalassemia: molecular mechanism and detection. Am J Hum Genet (1986) 0.91

A common mutant EcoRI restriction endonuclease site in the 5' flanking portion of the human alpha-globin gene. Proc Natl Acad Sci U S A (1981) 0.88

Phenotype-genotype correlation in haemoglobin H disease in childhood. J Med Genet (1983) 0.83

Acquired alpha-thalassemia in preleukemia is due to decreased expression of all four alpha-globin genes. Proc Natl Acad Sci U S A (1983) 0.82

Rapid, accurate genotyping of the common -alpha(4.2) thalassaemia deletion based on the use of denaturing HPLC. J Clin Pathol (2004) 0.77

Pitfalls in prenatal diagnosis of beta thalassaemia. J Med Genet (1986) 0.75

The Atlanta family with hemoglobin Grady revisited. Am J Hum Genet (1983) 0.75

The occurrence of the alpha G-Philadelphia-globin allele on a double-locus chromosome. Am J Hum Genet (1984) 0.75

A journey in science: early lessons from the hemoglobin field. Mol Med (2014) 0.75

A large deletion encompassing the entire alpha-like globin gene cluster in a family of northern European extraction. Nucleic Acids Res (1988) 0.75

Non-deletion haemoglobin H disease in Papua New Guinea. J Med Genet (1987) 0.75

Nucleotide variations in the 3' A gamma enhancer region are linked to beta-gene cluster haplotypes and are unrelated to fetal hemoglobin expression. Am J Hum Genet (1989) 0.75

Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia. J Clin Invest (1984) 0.75

Spectrum of alpha-globin gene mutations among premarital Baluch couples in southeastern Iran. Int J Hematol Oncol Stem Cell Res (2015) 0.75

Two BglII RFLPs of the human alpha-globin gene cluster in the American sickle cell population. Nucleic Acids Res (1989) 0.75

alpha-Thalassaemia in Apulia: biosynthetic studies. J Med Genet (1983) 0.75

Articles cited by this

Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol (1975) 503.08

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A (1978) 16.54

Construction and characterization of new cloning vehicles. I. Ampicillin-resistant derivatives of the plasmid pMB9. Gene (1977) 12.93

The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions. Cell (1980) 9.13

Changes in restricted human cellular DNA fragments containing globin gene sequences in thalassemias and related disorders. Proc Natl Acad Sci U S A (1978) 6.46

Insertion of synthetic copies of human globin genes into bacterial plasmids. Nucleic Acids Res (1978) 5.99

The organization, expression, and evolution of antibody genes and other multigene families. Annu Rev Genet (1975) 5.87

Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: direct determination of gene linkage and intergene distance. Cell (1978) 5.30

Organization of human delta--and beta-globin genes in cellular DNA and the presence of intragenic inserts. Cell (1978) 4.18

Identification of a nondeletion defect in alpha-thalassemia. N Engl J Med (1977) 3.86

Genetic lesion in homozygous alpha thalassaemia (hydrops fetalis). Nature (1974) 3.58

The duplicated human alpha globin genes lie close together in cellular DNA. Proc Natl Acad Sci U S A (1978) 3.33

The severe form of alpha thalassaemia is caused by a haemoglobin gene deletion. Nature (1974) 3.04

Special sites in generalized recombination. Annu Rev Genet (1979) 2.65

Triplicated alpha-globin loci in humans. Proc Natl Acad Sci U S A (1980) 2.61

The molecular basis of alpha-thalassemias: frequent occurrence of dysfunctional alpha loci among non-Asians with Hb H disease. Cell (1979) 2.41

Organization of the alpha-globin genes in the Chinese alpha-thalassemia syndromes. J Clin Invest (1979) 2.37

alpha-Globin gene organisation in blacks precludes the severe form of alpha-thalassaemia. Nature (1979) 2.25

A novel alpha-globin gene arrangement in man. Nature (1980) 1.98

Selective restriction endonuclease cleavage of human globin genes. J Biol Chem (1978) 1.93

Oxidant damage mediates variant red cell resistance to malaria. Nature (1979) 1.85

Genetics of red cells and susceptibility to malaria. Blood (1979) 1.71

Molecular basis of hemoglobin-H disease in the Mediterranean population. Blood (1979) 1.14

Is the human globin -chain locus duplicated? Br J Haematol (1973) 1.09

Genetic model for observed distributions of proportions of haemoglobin in sickle-cell trait. Nature (1977) 0.95

HindII, HindIII, and HpaI restriction fragment maps of the left arm of bacteriophage lambda DNA. Gene (1977) 0.94

Hemoglobin alpha chain deficiency in black children with variable quantities of hemoglobin Bart's at birth. Pediatr Res (1977) 0.93

Alpha-thalassemia in blacks is due to gene deletion. Am J Hum Genet (1979) 0.89

Articles by these authors

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A (1978) 16.54

The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling. Cell (1985) 7.45

Isolation of NF-E2-related factor 2 (Nrf2), a NF-E2-like basic leucine zipper transcriptional activator that binds to the tandem NF-E2/AP1 repeat of the beta-globin locus control region. Proc Natl Acad Sci U S A (1994) 6.72

Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells. Lancet (1978) 6.19

Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. N Engl J Med (1999) 5.82

Carcinogenesis by chemicals: an overview--G. H. A. Clowes memorial lecture. Cancer Res (1970) 4.83

beta 0 thalassemia, a nonsense mutation in man. Proc Natl Acad Sci U S A (1979) 4.58

An important function of Nrf2 in combating oxidative stress: detoxification of acetaminophen. Proc Natl Acad Sci U S A (2001) 4.49

NRF2, a member of the NFE2 family of transcription factors, is not essential for murine erythropoiesis, growth, and development. Proc Natl Acad Sci U S A (1996) 4.41

Rapid duplication and loss of genes coding for the alpha chains of hemoglobin. Proc Natl Acad Sci U S A (1980) 4.33

Evolution of the hemoglobin S and C genes in world populations. Science (1980) 4.24

Studies on the heterogeneity of hemoglobin. IX. The use of Tris(hydroxymethyl)aminomethanehcl buffers in the anion-exchange chromatography of hemoglobins. J Chromatogr (1965) 4.17

Tissue-specific targeting of retroviral vectors through ligand-receptor interactions. Science (1994) 3.97

Detection of sickle cell anaemia and thalassaemias. Nature (1987) 3.94

Identification of a nondeletion defect in alpha-thalassemia. N Engl J Med (1977) 3.86

Nrf2 is essential for protection against acute pulmonary injury in mice. Proc Natl Acad Sci U S A (1999) 3.79

Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia. N Engl J Med (1980) 3.72

Carcinogens as frameshift mutagens: metabolites and derivatives of 2-acetylaminofluorene and other aromatic amine carcinogens. Proc Natl Acad Sci U S A (1972) 3.61

Genetic lesion in homozygous alpha thalassaemia (hydrops fetalis). Nature (1974) 3.58

Rapid prenatal diagnosis of sickle cell anemia by a new method of DNA analysis. N Engl J Med (1987) 3.44

Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude. Am J Phys Anthropol (1994) 3.40

Cloning of Nrf1, an NF-E2-related transcription factor, by genetic selection in yeast. Proc Natl Acad Sci U S A (1993) 3.39

Molecular cloning of protein 4.1, a major structural element of the human erythrocyte membrane skeleton. Proc Natl Acad Sci U S A (1986) 3.22

Isolation of circovirus from lesions of pigs with postweaning multisystemic wasting syndrome. Can Vet J (1998) 3.19

Evidence for multiple structural genes for the gamma chain of human fetal hemoglobin. Proc Natl Acad Sci U S A (1968) 3.05

Homology and concerted evolution at the alpha 1 and alpha 2 loci of human alpha-globin. Nature (1981) 2.97

Human beta-globin gene expression in transgenic mice is enhanced by a distant DNase I hypersensitive site. Proc Natl Acad Sci U S A (1989) 2.92

A sensitive new prenatal test for sickle-cell anemia. N Engl J Med (1982) 2.91

Characterization of novel circovirus DNAs associated with wasting syndromes in pigs. J Gen Virol (1998) 2.90

Prenatal diagnosis of beta-thalassemia. Detection of a single nucleotide mutation in DNA. N Engl J Med (1983) 2.78

Elevated expression of axin2 and hnkd mRNA provides evidence that Wnt/beta -catenin signaling is activated in human colon tumors. Proc Natl Acad Sci U S A (2001) 2.77

The nucleotide sequences of the untranslated 5' regions of human alpha- and beta-globin mRNAs. Proc Natl Acad Sci U S A (1977) 2.75

Reactivation of hepatitis B virus replication in patients receiving cytotoxic therapy. Report of a prospective study. Gastroenterology (1991) 2.75

Treatment of chronic granulomatous disease with nonmyeloablative conditioning and a T-cell-depleted hematopoietic allograft. N Engl J Med (2001) 2.75

8-(N-2-fluorenylacetamido)guanosine, an arylamidation reaction product of guanosine and the carcinogen N-acetoxy-N-2-fluorenylacetamide in neutral solution. Biochemistry (1967) 2.69

Detection of specific DNA sequences by fluorescence amplification: a color complementation assay. Proc Natl Acad Sci U S A (1989) 2.67

Construction of a functional human suppressor tRNA gene: an approach to gene therapy for beta-thalassaemia. Nature (1982) 2.65

Searches for ultimate chemical carcinogens and their reactions with cellular macromolecules. Cancer (1981) 2.65

Cloning and complete nucleotide sequence of human 5'-alpha-globin gene. Proc Natl Acad Sci U S A (1980) 2.62

Triplicated alpha-globin loci in humans. Proc Natl Acad Sci U S A (1980) 2.61

Tn5/IS50 target recognition. Proc Natl Acad Sci U S A (1998) 2.47

Globin chain synthesis in the alpha thalassemia syndromes. J Clin Invest (1969) 2.46

Deletion of the beta-globin structure gene in hereditary persistence of foetal haemoglobin. Nature (1975) 2.45

Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood. Nat Genet (1996) 2.45

Synergistic enhancement of globin gene expression by activator protein-1-like proteins. Proc Natl Acad Sci U S A (1990) 2.45

Cloning, sequencing, and chromosomal localization of human term placental alkaline phosphatase cDNA. Proc Natl Acad Sci U S A (1985) 2.44

Organization of the alpha-globin genes in the Chinese alpha-thalassemia syndromes. J Clin Invest (1979) 2.37

C'2ad, an inactive derivative of C'2 released during decay of EAC'4,2a. Immunochemistry (1966) 2.37

Sequence of porcine circovirus DNA: affinities with plant circoviruses. J Gen Virol (1997) 2.32

beta zero thalassemia in Sardinia is caused by a nonsense mutation. J Clin Invest (1981) 2.30

alpha-Globin gene organisation in blacks precludes the severe form of alpha-thalassaemia. Nature (1979) 2.25

ICSH recommendations for the measurement of haemoglobin A2. Int J Lab Hematol (2011) 2.23

Principal glycopeptide of the tetrodotoxin/saxitoxin binding protein from Electrophorus electricus: isolation and partial chemical and physical characterization. Biochemistry (1983) 2.22

Cloning and recombinant expression of phospholipase A2 present in rheumatoid arthritic synovial fluid. J Biol Chem (1989) 2.22

Liver microsomal metabolism of aflatoxin B 1 to a reactive derivative toxic to Salmonella typhimurium TA 1530. Cancer Res (1972) 2.18

Versatile cosmid vectors for the isolation, expression, and rescue of gene sequences: studies with the human alpha-globin gene cluster. Proc Natl Acad Sci U S A (1983) 2.14

Prenatal diagnosis of alpha-thalassemia. Clinical application of molecular hybridization. N Engl J Med (1976) 2.10

Genetic and clinical features of hemoglobin H disease in Chinese patients. N Engl J Med (2000) 2.07

Studies on the heterogeneity of hemoglobin. 13. Chromatography of various human and animal hemoglobin types on DEAE-Sephadex. J Chromatogr (1968) 2.07

In vivo protein-DNA interactions at the beta-globin gene locus. Proc Natl Acad Sci U S A (1991) 2.05

Mechanisms of chemical carcinogenesis: nature of proximate carcinogens and interactions with macromolecules. Pharmacol Rev (1966) 1.98

Targeted disruption of the ubiquitous CNC-bZIP transcription factor, Nrf-1, results in anemia and embryonic lethality in mice. EMBO J (1998) 1.97

Deletion of alpha-globin genes in haemoglobin-H disease demonstrates multiple alpha-globin structural loci. Nature (1975) 1.95

Isolation from chickens of a rotavirus lacking the rotavirus group antigen. J Gen Virol (1981) 1.93

A rapid screening test for antenatal sex determination. Lancet (1984) 1.92

A single chicken anemia virus protein induces apoptosis. J Virol (1994) 1.91

Isolation of cDNA encoding the human NF-E2 protein. Proc Natl Acad Sci U S A (1993) 1.91

2,3-Dihydro-2-(guan-7-yl)-3-hydroxy-aflatoxin B1, a major acid hydrolysis product of aflatoxin B1-DNA or -ribosomal RNA adducts formed in hepatic microsome-mediated reactions and in rat liver in vivo. Cancer Res (1977) 1.88

Germ-line transmission and developmental regulation of a 150-kb yeast artificial chromosome containing the human beta-globin locus in transgenic mice. Proc Natl Acad Sci U S A (1993) 1.88

Microscopic pulmonary tumor emboli associated with dyspnea. Cancer (1975) 1.86

Sickle cell disease as a cause of osteonecrosis of the femoral head. N Engl J Med (1991) 1.86

A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia. J Clin Invest (1985) 1.85

Concurrent sickle-cell anemia and alpha-thalassemia: effect on severity of anemia. N Engl J Med (1982) 1.85

Dissection of the enhancer activity of beta-globin 5' DNase I-hypersensitive site 2 in transgenic mice. Proc Natl Acad Sci U S A (1992) 1.84

Construction of human chromosome 21-specific yeast artificial chromosomes. Proc Natl Acad Sci U S A (1989) 1.83

Human papillomavirus types 16 E6 and E7 contribute differently to carcinogenesis. Virology (2000) 1.83

High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11. Science (1984) 1.80

Risk of altitude exposure in sickle cell disease. West J Med (1981) 1.78