Literature DB >> 4000967

Analysis of an inversion within the human beta globin gene cluster.

M W Jennings, R W Jones, W G Wood, D J Weatherall.   

Abstract

We have cloned and sequenced the DNA from two regions of the defective beta-globin gene cluster from a patient with Indian A gamma delta beta thalassaemia, and confirmed the complex and unusual pattern of rearrangement involving two separate deletions (0.8 kb and 7.5 kb) the inversion of the 15.5 kb segment separating them, as previously proposed from gene mapping studies [1]. All four breakpoints occur within the transcribed region of the globin genes and at one junction are found six nucleotides of unknown origin. This unique rearrangement results in enhanced expression of the upstream fetal gene, and is therefore is pertinent to the localisation of any putative control region involved in the coordinate expression of fetal and adult genes.

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Year:  1985        PMID： 4000967      PMCID： PMC341202          DOI： 10.1093/nar/13.8.2897

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


  33 in total

1.  Gamma-beta thalassemia: a cause of hemolytic disease of the newborn.

Authors:  Y W Kan; B G Forget; D G Nathan
Journal:  N Engl J Med       Date:  1972-01-20       Impact factor: 91.245

2.  Molecular cloning and characterization of the human beta-like globin gene cluster.

Authors:  E F Fritsch; R M Lawn; T Maniatis
Journal:  Cell       Date:  1980-04       Impact factor: 41.582

3.  Heterogeneity of DNA deletion in gamma delta beta-thalassemia.

Authors:  S H Orkin; S C Goff; D G Nathan
Journal:  J Clin Invest       Date:  1981-03       Impact factor: 14.808

4.  A mutant immunoglobulin light chain is formed by aberrant DNA- and RNA-splicing events.

Authors:  J G Seidman; P Leder
Journal:  Nature       Date:  1980-08-21       Impact factor: 49.962

5.  Inverted duplication of histone genes in chicken and disposition of regulatory sequences.

Authors:  S W Wang; A J Robins; R d'Andrea; J R Wells
Journal:  Nucleic Acids Res       Date:  1985-02-25       Impact factor: 16.971

6.  Integration and excision of SV40 DNA from the chromosome of a transformed cell.

Authors:  M Botchan; J Stringer; T Mitchison; J Sambrook
Journal:  Cell       Date:  1980-05       Impact factor: 41.582

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

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

8.  Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes.

Authors:  J L Slightom; A E Blechl; O Smithies
Journal:  Cell       Date:  1980-10       Impact factor: 41.582

9.  gamma-beta-Thalassaemia studies showing that deletion of the gamma- and delta-genes influences beta-globin gene expression in man.

Authors:  L H Van der Ploeg; A Konings; M Oort; D Roos; L Bernini; R A Flavell
Journal:  Nature       Date:  1980-02-14       Impact factor: 49.962

10.  Physical mapping of the globin gene deletion in hereditary persistence of foetal haemoglobin (HPFH).

Authors:  R Bernards; R A Flavell
Journal:  Nucleic Acids Res       Date:  1980-04-11       Impact factor: 16.971
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  17 in total

1.  Molecular mechanism in the formation of a human ring chromosome 21.

Authors:  C Wong; H H Kazazian; G Stetten; W C Earnshaw; M L Van Keuren; S E Antonarakis
Journal:  Proc Natl Acad Sci U S A       Date:  1989-03       Impact factor: 11.205

2.  Molecular analysis of two mouse dilute locus deletion mutations: spontaneous dilute lethal20J and radiation-induced dilute prenatal lethal Aa2 alleles.

Authors:  M C Strobel; P K Seperack; N G Copeland; N A Jenkins
Journal:  Mol Cell Biol       Date:  1990-02       Impact factor: 4.272

3.  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

4.  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

5.  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

6.  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

7.  Structures of spontaneous deletions in Caenorhabditis elegans.

Authors:  R A Pulak; P Anderson
Journal:  Mol Cell Biol       Date:  1988-09       Impact factor: 4.272

8.  Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes.

Authors:  T A Donlon
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

9.  DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis.

Authors:  S K Karathanasis; E Ferris; I A Haddad
Journal:  Proc Natl Acad Sci U S A       Date:  1987-10       Impact factor: 11.205

10.  Genomic organization and gene expression of the multiple globins in Atlantic cod: conservation of globin-flanking genes in chordates infers the origin of the vertebrate globin clusters.

Authors:  Ola F Wetten; Alexander J Nederbragt; Robert C Wilson; Kjetill S Jakobsen; Rolf B Edvardsen; Øivind Andersen
Journal:  BMC Evol Biol       Date:  2010-10-20       Impact factor: 3.260
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