Literature DB >> 2557612

The Huntington disease locus is most likely within 325 kilobases of the chromosome 4p telomere.

N A Doggett1, J F Cheng, C L Smith, C R Cantor.   

Abstract

The genetic defect responsible for Huntington disease was originally localized near the tip of the short arm of chromosome 4 by genetic linkage to the locus D4S10. Several markers closer to Huntington disease have since been isolated, but these all appear to be proximal to the defect. A physical map that extends from the most distal of these loci, D4S90, to the telomere of chromosome 4 was constructed. This map identifies at least two CpG islands as markers for Huntington disease candidate genes and places the most likely location of the Huntington disease defect remarkably close (within 325 kilobases) to the telomere.

Entities:  

Mesh：

Substances：

Year:  1989        PMID： 2557612      PMCID： PMC298632          DOI： 10.1073/pnas.86.24.10011

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


  23 in total

Review 1.  CpG-rich islands and the function of DNA methylation.

Authors:  A P Bird
Journal:  Nature       Date:  1986 May 15-21       Impact factor: 49.962

2.  A fraction of the mouse genome that is derived from islands of nonmethylated, CpG-rich DNA.

Authors:  A Bird; M Taggart; M Frommer; O J Miller; D Macleod
Journal:  Cell       Date:  1985-01       Impact factor: 41.582

3.  Genetic counterselective procedure to isolate interspecific cell hybrids containing single human chromosomes: construction of cell hybrids and recombinant DNA libraries specific for human chromosomes 3 and 4.

Authors:  L R Carlock; D Smith; J J Wasmuth
Journal:  Somat Cell Mol Genet       Date:  1986-03

Review 4.  Huntington's disease. Pathogenesis and management.

Authors:  J B Martin; J F Gusella
Journal:  N Engl J Med       Date:  1986-11-13       Impact factor: 91.245

5.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

6.  Isolation and characterization of a human telomere.

Authors:  J F Cheng; C L Smith; C R Cantor
Journal:  Nucleic Acids Res       Date:  1989-08-11       Impact factor: 16.971

7.  Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis.

Authors:  D C Schwartz; C R Cantor
Journal:  Cell       Date:  1984-05       Impact factor: 41.582

8.  Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere.

Authors:  T C Gilliam; R E Tanzi; J L Haines; T I Bonner; A G Faryniarz; W J Hobbs; M E MacDonald; S V Cheng; S E Folstein; P M Conneally
Journal:  Cell       Date:  1987-08-14       Impact factor: 41.582

9.  Homozygotes for Huntington's disease.

Authors:  N S Wexler; A B Young; R E Tanzi; H Travers; S Starosta-Rubinstein; J B Penney; S R Snodgrass; I Shoulson; F Gomez; M A Ramos Arroyo
Journal:  Nature       Date:  1987 Mar 12-18       Impact factor: 49.962

10.  A cell hybrid and recombinant DNA library that facilitate identification of polymorphic loci in the vicinity of the Huntington disease gene.

Authors:  J J Wasmuth; L R Carlock; B Smith; L L Immken
Journal:  Am J Hum Genet       Date:  1986-09       Impact factor: 11.025
View more
  8 in total

1.  A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf-Hirschhorn syndrome phenotype.

Authors:  L L Estabrooks; A N Lamb; H N Kirkman; N P Callanan; K W Rao
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

2.  Structural and transcriptional analysis of a human subtelomeric repeat.

Authors:  J F Cheng; C L Smith; C R Cantor
Journal:  Nucleic Acids Res       Date:  1991-01-11       Impact factor: 16.971

3.  The end in sight for Huntington disease?

Authors:  C Pritchard; D R Cox; R M Myers
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

4.  Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3.

Authors:  B Weber; O Riess; G Hutchinson; C Collins; B Y Lin; D Kowbel; S Andrew; K Schappert; M R Hayden
Journal:  Nucleic Acids Res       Date:  1991-11-25       Impact factor: 16.971

Review 5.  Telomere shortening and Alzheimer's disease.

Authors:  Zhiyou Cai; Liang-Jun Yan; Anna Ratka
Journal:  Neuromolecular Med       Date:  2012-11-16       Impact factor: 3.843

6.  A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates.

Authors:  K H Buetow; R Shiang; P Yang; Y Nakamura; G M Lathrop; R White; J J Wasmuth; S Wood; L D Berdahl; N J Leysens
Journal:  Am J Hum Genet       Date:  1991-05       Impact factor: 11.025

7.  A cloned DNA segment from the telomeric region of human chromosome 4p is not detectably rearranged in Huntington disease patients.

Authors:  C Pritchard; D Casher; L Bull; D R Cox; R M Myers
Journal:  Proc Natl Acad Sci U S A       Date:  1990-09       Impact factor: 11.205

8.  Linkage disequilibrium and recombination make a telomeric site for the Huntington's disease gene unlikely.

Authors:  L Barron; A Curtis; A E Shrimpton; S Holloway; H May; R G Snell; D J Brock
Journal:  J Med Genet       Date:  1991-08       Impact factor: 6.318
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.