Literature DB >> 7162987

Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene.

R A Spritz, S H Orkin.   

Abstract

Nucleotide sequence analysis of a cloned deletion beta-globin gene from a patient with beta(0)-thalassemia demonstrates a 619 nucleotide deletion extending from the 3' third of the second intervening sequence through 209 bases of 3' flanking DNA. However, an additional novel heptanucleotide was identified between the deletion endpoints, suggesting a complex etiology for this rearrangement.

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Year:  1982        PMID： 7162987      PMCID： PMC327067          DOI： 10.1093/nar/10.24.8025

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


  21 in total

Review 1.  Genetic recombination: strand transfer and mismatch repair.

Authors:  C M Radding
Journal:  Annu Rev Biochem       Date:  1978       Impact factor: 23.643

2.  Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli.

Authors:  P J Farabaugh; U Schmeissner; M Hofer; J H Miller
Journal:  J Mol Biol       Date:  1978-12-25       Impact factor: 5.469

3.  The structure of the human beta-globin gene in beta-thalassaemia.

Authors:  R A Flavell; R Bernards; J M Kooter; E de Boer; P F Little; G Annison; R Williamson
Journal:  Nucleic Acids Res       Date:  1979-06-25       Impact factor: 16.971

4.  Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday.

Authors:  G Streisinger; Y Okada; J Emrich; J Newton; A Tsugita; E Terzaghi; M Inouye
Journal:  Cold Spring Harb Symp Quant Biol       Date:  1966

5.  Cloning and direct examination of a structurally abnormal human beta 0-thalassemia globin gene.

Authors:  S H Orkin; R Kolodner; A Michelson; R Husson
Journal:  Proc Natl Acad Sci U S A       Date:  1980-06       Impact factor: 11.205

6.  The nucleotide sequence of the human beta-globin gene.

Authors:  R M Lawn; A Efstratiadis; C O'Connell; T Maniatis
Journal:  Cell       Date:  1980-10       Impact factor: 41.582

7.  beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box.

Authors:  M Poncz; M Ballantine; D Solowiejczyk; I Barak; E Schwartz; S Surrey
Journal:  J Biol Chem       Date:  1982-06-10       Impact factor: 5.157

8.  Sequencing end-labeled DNA with base-specific chemical cleavages.

Authors:  A M Maxam; W Gilbert
Journal:  Methods Enzymol       Date:  1980       Impact factor: 1.600

9.  The structure and evolution of the human beta-globin gene family.

Authors:  A Efstratiadis; J W Posakony; T Maniatis; R M Lawn; C O'Connell; R A Spritz; J K DeRiel; B G Forget; S M Weissman; J L Slightom; A E Blechl; O Smithies; F E Baralle; C C Shoulders; N J Proudfoot
Journal:  Cell       Date:  1980-10       Impact factor: 41.582

10.  Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia.

Authors:  S H Orkin; J M Old; D J Weatherall; D G Nathan
Journal:  Proc Natl Acad Sci U S A       Date:  1979-05       Impact factor: 11.205
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  20 in total

1.  Filler DNA is associated with spontaneous deletions in maize.

Authors:  S Wessler; A Tarpley; M Purugganan; M Spell; R Okagaki
Journal:  Proc Natl Acad Sci U S A       Date:  1990-11       Impact factor: 11.205

2.  The molecular basis of thalassemias.

Authors:  S Fucharoen; P Winichagoon
Journal:  Indian J Pediatr       Date:  1989 Nov-Dec       Impact factor: 1.967

3.  A silent deletion in the beta-globin gene cluster.

Authors:  V E Tate; A V Hill; D K Bowden; J R Sadler; D J Weatherall; J B Clegg
Journal:  Nucleic Acids Res       Date:  1986-06-25       Impact factor: 16.971

4.  Filipino beta zero thalassaemia: a high Hb A2 beta zero thalassaemia resulting from a large deletion of the 5' beta globin gene region.

Authors:  P I Motum; A Kearney; T J Hamilton; R J Trent
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

5.  Non-homologous DNA end joining in plant cells is associated with deletions and filler DNA insertions.

Authors:  V Gorbunova; A A Levy
Journal:  Nucleic Acids Res       Date:  1997-11-15       Impact factor: 16.971

6.  Comparison of filler DNA at immune, nonimmune, and oncogenic rearrangements suggests multiple mechanisms of formation.

Authors:  D B Roth; X B Chang; J H Wilson
Journal:  Mol Cell Biol       Date:  1989-07       Impact factor: 4.272

7.  A Chinese G gamma + (A gamma delta beta)zero thalassemia deletion: comparison to other deletions in the human beta-globin gene cluster and sequence analysis of the breakpoints.

Authors:  D L Mager; P S Henthorn; O Smithies
Journal:  Nucleic Acids Res       Date:  1985-09-25       Impact factor: 16.971

8.  Inverted duplication-transposition event in mammalian cells at an illegitimate recombination join.

Authors:  T J Williams; M Fried
Journal:  Mol Cell Biol       Date:  1986-06       Impact factor: 4.272

9.  Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene.

Authors:  S Canning; T P Dryja
Journal:  Proc Natl Acad Sci U S A       Date:  1989-07       Impact factor: 11.205

10.  A beta-thalassemia mutant caused by a 300-bp deletion in the human beta-globin gene.

Authors:  C Aulehla-Scholz; R Spiegelberg; J Horst
Journal:  Hum Genet       Date:  1989-02       Impact factor: 4.132
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