Literature DB >> 8575781

Head to tail organization of the human COL6A1 and COL6A2 genes by fiber-FISH.

M Heiskanen1, B Saitta, A Palotie, M L Chu.   

Abstract

Two type VI collagen genes, COL6A1 and COL6A2, both map to 21q22.3, but the order, distance, and organization of these two genes relative to one another were not known. Recently developed high-resolution fluorescence in situ hybridization (FISH) techniques have great potential to facilitate the construction of fine-resolution maps of telomeric regions where gene density is high. Here we have determined the distance separating the COL6A1 and COL6A2 genes (150 kb), the size of the COL6A1 gene (29 kb); and the 5'-3' orientation of these genes (5' COL6A1 3'-5' COL6A2 3') using fiber-FISH.

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Year:  1995        PMID: 8575781     DOI: 10.1006/geno.1995.9008

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  8 in total

Review 1.  The congenital muscular dystrophies: recent advances and molecular insights.

Authors:  Jerry R Mendell; Daniel R Boué; Paul T Martin
Journal:  Pediatr Dev Pathol       Date:  2006 Nov-Dec

2.  Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.

Authors:  A Reghan Foley; Ying Hu; Yaqun Zou; Michele Yang; Līvija Medne; Meganne Leach; Laura K Conlin; Nancy Spinner; Tamim H Shaikh; Marni Falk; Ann M Neumeyer; Laurie Bliss; Brian S Tseng; Thomas L Winder; Carsten G Bönnemann
Journal:  Ann Neurol       Date:  2011-01       Impact factor: 10.422

Review 3.  The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.

Authors:  Carsten G Bönnemann
Journal:  Handb Clin Neurol       Date:  2011

4.  Human COL6A1: genomic characterization of the globular domains, structural and evolutionary comparison with COL6A2.

Authors:  D Trikka; T Davis; V Lapenta; C Brahe; A M Kessling
Journal:  Mamm Genome       Date:  1997-05       Impact factor: 2.957

Review 5.  Collagen VI related muscle disorders.

Authors:  A K Lampe; K M D Bushby
Journal:  J Med Genet       Date:  2005-09       Impact factor: 6.318

6.  Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

Authors:  A K Lampe; D M Dunn; A C von Niederhausern; C Hamil; A Aoyagi; S H Laval; S K Marie; M-L Chu; K Swoboda; F Muntoni; C G Bonnemann; K M Flanigan; K M D Bushby; R B Weiss
Journal:  J Med Genet       Date:  2005-02       Impact factor: 6.318

7.  New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.

Authors:  Te-Cheng Pan; Rui-Zhu Zhang; Dominick G Sudano; Suely K Marie; Carsten G Bönnemann; Mon-Li Chu
Journal:  Am J Hum Genet       Date:  2003-07-01       Impact factor: 11.025

8.  Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report.

Authors:  Elena Martoni; Stefania Petrini; Cecilia Trabanelli; Patrizia Sabatelli; Anna Urciuolo; Rita Selvatici; Adele D'Amico; Sofia Falzarano; Enrico Bertini; Paolo Bonaldo; Alessandra Ferlini; Francesca Gualandi
Journal:  BMC Med Genet       Date:  2013-06-05       Impact factor: 2.103

  8 in total

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