Literature DB >> 1397333

Genomic organization and full-length cDNA sequence of human collagen X.

E Reichenberger1, F Beier, P LuValle, B R Olsen, K von der Mark, W M Bertling.   

Abstract

We have determined the full-length cDNA sequence of the human alpha 1(X) collagen gene by sequence analysis of a genomic clone ERG [(1991) Dev. Biol. 148, 562-572], and of cDNA fragments generated from a reverse transcribed as alpha 1(X) mRNA by PCR. We defined the promoter region, the transcription initiation site and the full-length 5'-untranslated region. We also report the exon/intron boundaries of the transcript and the complete 3'-untranslated region as well as a 3'-flanking sequence containing two additional polyadenylation signals. The promoter region is homologous to chicken and mouse type X promoters within several highly conserved regions. The genomic organization shows high homologies to chicken and mouse.

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Year:  1992        PMID: 1397333     DOI: 10.1016/0014-5793(92)81126-7

Source DB:  PubMed          Journal:  FEBS Lett        ISSN: 0014-5793            Impact factor:   4.124


  8 in total

1.  Coexpression of alpha and beta subunits of prolyl 4-hydroxylase stabilizes the triple helix of recombinant human type X collagen.

Authors:  K Wagner; E Pöschl; J Turnay; J Baik; T Pihlajaniemi; S Frischholz; K von der Mark
Journal:  Biochem J       Date:  2000-12-15       Impact factor: 3.857

2.  A novel method to examine the phenotype of chondrocytes.

Authors:  R Kuijer; D A Surtel; A J Van Der Linden; S K Bulstra; R C Passier
Journal:  J Mater Sci Mater Med       Date:  1998-12       Impact factor: 3.896

3.  Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.

Authors:  G A Wallis; B Rash; B Sykes; J Bonaventure; P Maroteaux; B Zabel; R Wynne-Davies; M E Grant; R P Boot-Handford
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

4.  Deletions in the COL10A1 gene are not associated with skeletal changes in dogs.

Authors:  Amy E Young; Jeanne R Ryun; Danika L Bannasch
Journal:  Mamm Genome       Date:  2006-07-14       Impact factor: 2.957

5.  A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia.

Authors:  D Chan; Y M Weng; H K Graham; D O Sillence; J F Bateman
Journal:  J Clin Invest       Date:  1998-04-01       Impact factor: 14.808

6.  Beta-sheet secondary structure of the trimeric globular domain of C1q of complement and collagen types VIII and X by Fourier-transform infrared spectroscopy and averaged structure predictions.

Authors:  K F Smith; P I Haris; D Chapman; K B Reid; S J Perkins
Journal:  Biochem J       Date:  1994-07-01       Impact factor: 3.857

7.  Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.

Authors:  G A Wallis; B Rash; W A Sweetman; J T Thomas; M Super; G Evans; M E Grant; R P Boot-Handford
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

8.  The EMILIN/Multimerin family.

Authors:  Alfonso Colombatti; Paola Spessotto; Roberto Doliana; Maurizio Mongiat; Giorgio Maria Bressan; Gennaro Esposito
Journal:  Front Immunol       Date:  2012-01-06       Impact factor: 7.561

  8 in total

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