Literature DB >> 3763397

Gamma delta beta-thalassaemias 1 and 2 are the result of a 100 kbp deletion in the human beta-globin cluster.

R Taramelli, D Kioussis, E Vanin, K Bartram, J Groffen, J Hurst, F G Grosveld.   

Abstract

The DNA spanning two large deletions in the human beta-globin gene cluster (gamma beta-thalassaemia 1 and 2) has been cloned by cosmid cloning and chromosomal walking. The entire region was mapped and analyzed for the presence of repetitive sequences. The results show that the affected loci have lost almost 100 kb of DNA in a deletion event not involving homologous or repetitive sequences.

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Year:  1986        PMID： 3763397      PMCID： PMC311714          DOI： 10.1093/nar/14.17.7017

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


  19 in total

1.  Improved identification of chromosomes of leukemic cells in methotrexate-treated cultures.

Authors:  A Hagemeijer; E M Smit; D Bootsma
Journal:  Cytogenet Cell Genet       Date:  1979

2.  A family of long reiterated DNA sequences, one copy of which is next to the human beta globin gene.

Authors:  J W Adams; R E Kaufman; P J Kretschmer; M Harrison; A W Nienhuis
Journal:  Nucleic Acids Res       Date:  1980-12-20       Impact factor: 16.971

3.  KpnI families of long, interspersed repetitive DNAs associated with the human beta-globin gene cluster.

Authors:  B Shafit-Zagardo; F L Brown; J J Maio; J W Adams
Journal:  Gene       Date:  1982-12       Impact factor: 3.688

4.  Repetitive DNA sequences near three human beta-type globin genes.

Authors:  L W Coggins; G J Grindlay; J K Vass; A A Slater; P Montague; M A Stinson; J Paul
Journal:  Nucleic Acids Res       Date:  1980-08-11       Impact factor: 16.971

5.  Supercoiled loops and eucaryotic DNA replicaton.

Authors:  B Vogelstein; D M Pardoll; D S Coffey
Journal:  Cell       Date:  1980-11       Impact factor: 41.582

6.  The beta-subunit of follicle-stimulating hormone is deleted in patients with aniridia and Wilms' tumour, allowing a further definition of the WAGR locus.

Authors:  T Glaser; W H Lewis; G A Bruns; P C Watkins; C E Rogler; T B Shows; V E Powers; H F Willard; J M Goguen; K O Simola
Journal:  Nature       Date:  1986 Jun 26-Jul 2       Impact factor: 49.962

7.  Organ site specificity for cancer in chromosomal instability disorders.

Authors:  A P Feinberg; D S Coffey
Journal:  Cancer Res       Date:  1982-08       Impact factor: 12.701

8.  A B1 repetitive sequence near the mouse beta-major globin gene.

Authors:  L W Coggins; J K Vass; M A Stinson; W G Lanyon; J Paul
Journal:  Gene       Date:  1982-01       Impact factor: 3.688

9.  The c-Ha-ras1, insulin and beta-globin loci map outside the deletion associated with aniridia-Wilms' tumour.

Authors:  B de Martinville; U Francke
Journal:  Nature       Date:  1983 Oct 13-19       Impact factor: 49.962

10.  Isolation of beta-globin-related genes from a human cosmid library.

Authors:  F G Grosveld; H H Dahl; E de Boer; R A Flavell
Journal:  Gene       Date:  1981-04       Impact factor: 3.688
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  29 in total

1.  Induction of human fetal globin gene expression by a novel erythroid factor, NF-E4.

Authors:  W Zhou; D R Clouston; X Wang; L Cerruti; J M Cunningham; S M Jane
Journal:  Mol Cell Biol       Date:  2000-10       Impact factor: 4.272

2.  Translocation of an erythroid-specific hypersensitive site in deletion-type hereditary persistence of fetal hemoglobin.

Authors:  J T Elder; W C Forrester; C Thompson; D Mager; P Henthorn; M Peretz; T Papayannopoulou; M Groudine
Journal:  Mol Cell Biol       Date:  1990-04       Impact factor: 4.272

3.  Mechanism of DNase I hypersensitive site formation within the human globin locus control region.

Authors:  C H Lowrey; D M Bodine; A W Nienhuis
Journal:  Proc Natl Acad Sci U S A       Date:  1992-02-01       Impact factor: 11.205

4.  A 46 base pair enhancer sequence within the locus activating region is required for induced expression of the gamma-globin gene during erythroid differentiation.

Authors:  B Sorrentino; P Ney; D Bodine; A W Nienhius
Journal:  Nucleic Acids Res       Date:  1990-05-11       Impact factor: 16.971

5.  Human beta-globin gene expression in transgenic mice is enhanced by a distant DNase I hypersensitive site.

Authors:  P T Curtin; D P Liu; W Liu; J C Chang; Y W Kan
Journal:  Proc Natl Acad Sci U S A       Date:  1989-09       Impact factor: 11.205

6.  Modification of human beta-globin locus PAC clones by homologous recombination in Escherichia coli.

Authors:  A M Imam; G P Patrinos; M de Krom; S Bottardi; R J Janssens; E Katsantoni; A W Wai; D J Sherratt; F G Grosveld
Journal:  Nucleic Acids Res       Date:  2000-06-15       Impact factor: 16.971

7.  Flanking HS-62.5 and 3' HS1, and regions upstream of the LCR, are not required for beta-globin transcription.

Authors:  M A Bender; Rachel Byron; Tobias Ragoczy; Agnes Telling; Michael Bulger; Mark Groudine
Journal:  Blood       Date:  2006-04-27       Impact factor: 22.113

8.  Asynchronous DNA replication within the human beta-globin gene locus.

Authors:  E Epner; W C Forrester; M Groudine
Journal:  Proc Natl Acad Sci U S A       Date:  1988-11       Impact factor: 11.205

9.  Evidence for a locus activation region: the formation of developmentally stable hypersensitive sites in globin-expressing hybrids.

Authors:  W C Forrester; S Takegawa; T Papayannopoulou; G Stamatoyannopoulos; M Groudine
Journal:  Nucleic Acids Res       Date:  1987-12-23       Impact factor: 16.971

Review 10.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132
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