Literature DB >> 2041732

Molecular cloning and analysis of the fragile X region in man.

A Dietrich1, P Kioschis, A P Monaco, B Gross, B Korn, S V Williams, D Sheer, D Heitz, I Oberle, D Toniolo.   

Abstract

The fragile X syndrome (FraX), the most common inherited form of mental retardation, has been located to Xq27.3. As a step in the molecular analysis of this mutation, we have cloned a contiguous 1.8 Mb region containing the entire fragile X region in YAC and cosmid clones. The cloned area defines a region of 50 kb containing a CpG island, found to be selectively methylated in patients expressing the fragile X phenotype. In this 50kb area we have localised the breakpoints of four somatic cell hybrids selected to break at the position of the fragile site. Fluorescence in-situ hybridisation of cosmids flanking this area shows that the breakpoints, the CpG island and the fragile site coincide.

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Year:  1991        PMID： 2041732      PMCID： PMC328171          DOI： 10.1093/nar/19.10.2567

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


  21 in total

1.  A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones.

Authors:  J Riley; R Butler; D Ogilvie; R Finniear; D Jenner; S Powell; R Anand; J C Smith; A F Markham
Journal:  Nucleic Acids Res       Date:  1990-05-25       Impact factor: 16.971

2.  Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture.

Authors:  G R Sutherland
Journal:  Am J Hum Genet       Date:  1979-03       Impact factor: 11.025

3.  The marker (X) syndrome: a cytogenetic and genetic analysis.

Authors:  S L Sherman; N E Morton; P A Jacobs; G Turner
Journal:  Ann Hum Genet       Date:  1984-01       Impact factor: 1.670

4.  Isolation and characterization of a major tandem repeat family from the human X chromosome.

Authors:  H F Willard; K D Smith; J Sutherland
Journal:  Nucleic Acids Res       Date:  1983-04-11       Impact factor: 16.971

5.  Alu sequences transcription in X. laevis oocytes: nuclear-cytoplasmic partitioning and evidence for 3' end processing reactions.

Authors:  E Perlino; G Paonessa; G Ciliberto
Journal:  Nucleic Acids Res       Date:  1985-12-09       Impact factor: 16.971

6.  Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island.

Authors:  D Heitz; F Rousseau; D Devys; S Saccone; H Abderrahim; D Le Paslier; D Cohen; A Vincent; D Toniolo; G Della Valle
Journal:  Science       Date:  1991-03-08       Impact factor: 47.728

7.  Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids.

Authors:  P Wieacker; K E Davies; H J Cooke; P L Pearson; R Williamson; S Bhattacharya; J Zimmer; H H Ropers
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

8.  Further segregation analysis of the fragile X syndrome with special reference to transmitting males.

Authors:  S L Sherman; P A Jacobs; N E Morton; U Froster-Iskenius; P N Howard-Peebles; K B Nielsen; M W Partington; G R Sutherland; G Turner; M Watson
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

9.  Two progenitor cells for human oogonia inferred from pedigree data and the X-inactivation imprinting model of the fragile-X syndrome.

Authors:  C D Laird; M M Lamb; J L Thorne
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

10.  The polymorphic human DNA sequence D8S8 assigned to 8q13-21.1, close to the carbonic anhydrase gene cluster, by isotopic and nonisotopic in situ hybridization and by linkage analysis.

Authors:  Y Edwards; S Williams; L West; S Lipowicz; D Sheer; J Attwood; N Spurr; R Sarkar; N Saha; S Povey
Journal:  Ann Hum Genet       Date:  1990-05       Impact factor: 1.670
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  13 in total

Review 1.  Long-range walking techniques in positional cloning strategies.

Authors:  L Stubbs
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

2.  A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.

Authors:  D Wöhrle; D Kotzot; M C Hirst; A Manca; B Korn; A Schmidt; G Barbi; H D Rott; A Poustka; K E Davies
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

3.  Identification of tissue-specific expressed sequences in human band Xq28 with complex pig cDNA probes.

Authors:  J F Coy; P Kioschis; Z Sedlacek; A Poustka
Journal:  Mamm Genome       Date:  1994-03       Impact factor: 2.957

4.  Interruption of the fragile X syndrome expanded sequence d(CGG)(n) by interspersed d(AGG) trinucleotides diminishes the formation and stability of d(CGG)(n) tetrahelical structures.

Authors:  P Weisman-Shomer; E Cohen; M Fry
Journal:  Nucleic Acids Res       Date:  2000-04-01       Impact factor: 16.971

Review 5.  Fragility Extraordinaire: Unsolved Mysteries of Chromosome Fragile Sites.

Authors:  Wenyi Feng; Arijita Chakraborty
Journal:  Adv Exp Med Biol       Date:  2017       Impact factor: 2.622

6.  The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure.

Authors:  M Fry; L A Loeb
Journal:  Proc Natl Acad Sci U S A       Date:  1994-05-24       Impact factor: 11.205

7.  Direct selection of DNA sequences conserved between species.

Authors:  Z Sedlacek; D S Konecki; R Siebenhaar; P Kioschis; A Poustka
Journal:  Nucleic Acids Res       Date:  1993-07-25       Impact factor: 16.971

8.  Polymerase chain reaction analysis of fragile X mutations.

Authors:  S H Erster; W T Brown; P Goonewardena; C S Dobkin; E C Jenkins; R G Pergolizzi
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

9.  A single trinucleotide, 5'AGC3'/5'GCT3', of the triplet-repeat disease genes confers metal ion-induced non-B DNA structure.

Authors:  Y Kohwi; H Wang; T Kohwi-Shigematsu
Journal:  Nucleic Acids Res       Date:  1993-12-11       Impact factor: 16.971

10.  Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection.

Authors:  A A el-Aleem; I Böhm; S Temtamy; M el-Awady; M Awadalla; J Schmidtke; M Stuhrmann
Journal:  Hum Genet       Date:  1995-11       Impact factor: 4.132
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