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Literature DB >> 2062644

A YAC contig across the fragile X site defines the region of fragility.

M C Hirst¹, K Rack, Y Nakahori, A Roche, M V Bell, G Flynn, Z Christadoulou, R N MacKinnon, M Francis, A J Littler.

Abstract

The fragile X syndrome is a common cause of mental retardation and is associated with a fragile site at Xq27.3 (FRAXA). Recently, evidence has been presented for the role of methylation and genomic imprinting in the expression of the disease. We have identified a site of methylation in patients by long range restriction mapping of the region. In this paper we present a YAC contig of this area, localise the CpG sequences which are methylated, and show by in situ hybridisation that the site of fragility lies within this region.

Entities: Disease Gene Species

Mesh：

Substances：
DNA

Year: 1991 PMID： 2062644 PMCID： PMC328323 DOI： 10.1093/nar/19.12.3283

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

21 in total

1. Linear order of new and established DNA markers around the fragile site at Xq27.3.

Authors: M C Hirst; A Roche; T J Flint; R N MacKinnon; J H Bassett; Y Nakahori; J E Watson; M V Bell; M N Patterson; Y Boyd
Journal: Genomics Date: 1991-05 Impact factor: 5.736

2. A 3.5 genome equivalent multi access YAC library: construction, characterisation, screening and storage.

Authors: R Anand; J H Riley; R Butler; J C Smith; A F Markham
Journal: Nucleic Acids Res Date: 1990-04-25 Impact factor: 16.971

3. Cloning of large segments of exogenous DNA into yeast by means of artificial chromosome vectors.

Authors: D T Burke; G F Carle; M V Olson
Journal: Science Date: 1987-05-15 Impact factor: 47.728

4. Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources.

Authors: D L Nelson; S A Ledbetter; L Corbo; M F Victoria; R Ramírez-Solis; T D Webster; D H Ledbetter; C T Caskey
Journal: Proc Natl Acad Sci U S A Date: 1989-09 Impact factor: 11.205

5. A marker X chromosome.

Authors: H A Lubs
Journal: Am J Hum Genet Date: 1969-05 Impact factor: 11.025

6. 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

7. Prevalence of the fragile X syndrome in four birth cohorts of children of school age.

Authors: M Kähkönen; T Alitalo; E Airaksinen; R Matilainen; K Launiala; S Autio; J Leisti
Journal: Hum Genet Date: 1987-09 Impact factor: 4.132

8. The frequency of the fragile X chromosome among schoolchildren in Coventry.

Authors: T P Webb; S Bundey; A Thake; J Todd
Journal: J Med Genet Date: 1986-10 Impact factor: 6.318

9. 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

10. Prevalence of the fragile-X syndrome in mentally retarded boys in a Swedish county.

Authors: K H Gustavson; H K Blomquist; G Holmgren
Journal: Am J Med Genet Date: 1986 Jan-Feb

15 in total

Review 1. Molecular analysis of the fragile X syndrome.

Authors: M C Hirst; S M Knight; Y Nakahori; A Roche; K E Davies
Journal: J Inherit Metab Dis Date: 1992 Impact factor: 4.982

2. Construction of a human chromosome 4 YAC pool and analysis of artificial chromosome stability.

Authors: H M Sleister; K A Mills; S E Blackwell; A M Killary; J C Murray; R E Malone
Journal: Nucleic Acids Res Date: 1992-07-11 Impact factor: 16.971

3. 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

A YAC contig across the fragile X site defines the region of fragility.

1. Linear order of new and established DNA markers around the fragile site at Xq27.3.

2. A 3.5 genome equivalent multi access YAC library: construction, characterisation, screening and storage.

3. Cloning of large segments of exogenous DNA into yeast by means of artificial chromosome vectors.

4. Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources.

5. A marker X chromosome.

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

7. Prevalence of the fragile X syndrome in four birth cohorts of children of school age.

8. The frequency of the fragile X chromosome among schoolchildren in Coventry.

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

10. Prevalence of the fragile-X syndrome in mentally retarded boys in a Swedish county.

Review 1. Molecular analysis of the fragile X syndrome.

2. Construction of a human chromosome 4 YAC pool and analysis of artificial chromosome stability.

3. 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.

4. A method for linking yeast artificial chromosomes.

5. Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.

6. Characterization of three de novo derivative chromosomes 16 by "reverse chromosome painting" and molecular analysis.

7. Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population.

8. Structure of the human DNA repair gene HAP1 and its localisation to chromosome 14q 11.2-12.

9. Molecular heterogeneity of the fragile X syndrome.

10. High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5.