Literature DB >> 8348156

A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene.

S Baxendale1, M E MacDonald, R Mott, F Francis, C Lin, S F Kirby, M James, G Zehetner, H Hummerich, J Valdes.   

Abstract

The quest for the mutation responsible for Huntington's disease (HD) has required an exceptionally detailed analysis of a large part of 4p16.3 by molecular genetic techniques, making this stretch of 2.2 megabases one of the best characterized regions of the human genome. Here we describe the construction of a cosmid and P1 clone contig spanning the region containing the HD gene, and the establishment of a detailed, high resolution restriction map. This ordered clone library has allowed the identification of several genes from the region, and has played a vital role in the recent identification of the Huntington's disease gene. The restriction map provides the framework for the detailed analysis of a region extremely rich in coding sequences. This study also exemplifies many of the strategies to be used in the analysis of larger regions of the human genome.

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Year:  1993        PMID： 8348156     DOI： 10.1038/ng0693-181

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  10 in total

1.  Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.

Authors:  M W Partington; K Fagan; V Soubjaki; G Turner
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

2.  Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3.

Authors:  M Chesi; E Nardini; L A Brents; E Schröck; T Ried; W M Kuehl; P L Bergsagel
Journal:  Nat Genet       Date:  1997-07       Impact factor: 38.330

3.  Mapping around the Fused locus on mouse chromosome 17.

Authors:  H F Sutherland; E Pick; F Francis; H Lehrach; A M Frischauf
Journal:  Mamm Genome       Date:  1995-07       Impact factor: 2.957

Review 4.  Toward the complete genomic map and molecular pathology of human chromosome 4.

Authors:  O Riess; B Winkelmann; J T Epplen
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

5.  Promiscuous translocations into immunoglobulin heavy chain switch regions in multiple myeloma.

Authors:  P L Bergsagel; M Chesi; E Nardini; L A Brents; S L Kirby; W M Kuehl
Journal:  Proc Natl Acad Sci U S A       Date:  1996-11-26       Impact factor: 11.205

6.  The dichotomous size variation of human complement C4 genes is mediated by a novel family of endogenous retroviruses, which also establishes species-specific genomic patterns among Old World primates.

Authors:  A W Dangel; A R Mendoza; B J Baker; C M Daniel; M C Carroll; L C Wu; C Y Yu
Journal:  Immunogenetics       Date:  1994       Impact factor: 2.846

7.  Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5.

Authors:  C L Grosson; M E MacDonald; M P Duyao; C M Ambrose; S Roffler-Tarlov; J F Gusella
Journal:  Mamm Genome       Date:  1994-07       Impact factor: 2.957

8.  Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

Authors:  Marcella Zollino; Rosetta Lecce; Rita Fischetto; Marina Murdolo; Francesca Faravelli; Angelo Selicorni; Cinzia Buttè; Luigi Memo; Giuseppe Capovilla; Giovanni Neri
Journal:  Am J Hum Genet       Date:  2003-01-30       Impact factor: 11.025

9.  The genomic sequences bound to special AT-rich sequence-binding protein 1 (SATB1) in vivo in Jurkat T cells are tightly associated with the nuclear matrix at the bases of the chromatin loops.

Authors:  I de Belle; S Cai; T Kohwi-Shigematsu
Journal:  J Cell Biol       Date:  1998-04-20       Impact factor: 10.539

10.  The Polymorphic PolyQ Tail Protein of the Mediator Complex, Med15, Regulates the Variable Response to Diverse Stresses.

Authors:  Jennifer E G Gallagher; Suk Lan Ser; Michael C Ayers; Casey Nassif; Amaury Pupo
Journal:  Int J Mol Sci       Date:  2020-03-10       Impact factor: 5.923
  10 in total

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