Literature DB >> 8948452

Conservation of the sizes of 53 introns and over 100 intronic sequences for the binding of common transcription factors in the human and mouse genes for type II procollagen (COL2A1).

L Ala-Kokko1, A P Kvist, M Metsäranta, K I Kivirikko, B de Crombrugghe, D J Prockop, E Vuorio.   

Abstract

Over 11,000 bp of previously undefined sequences of the human COL2A1 gene were defined. The results made it possible to compare the intron structures of a highly complex gene from man and mouse. Surprisingly, the sizes of the 53 introns of the two genes were highly conserved with a mean difference of 13%. After alignment of the sequences, 69% of the intron sequences were identical. The introns contained consensus sequences for the binding of over 100 different transcription factors that were conserved in the introns of the two genes. The first intron of the gene contained 80 conserved consensus sequences and the remaining 52 introns of the gene contained 106 conserved sequences for the binding of transcription factors. The 5'-end of intron 2 in both genes had a potential for forming a stem loop in RNA transcripts.

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Year:  1995        PMID: 8948452      PMCID: PMC1136812          DOI: 10.1042/bj3080923

Source DB:  PubMed          Journal:  Biochem J        ISSN: 0264-6021            Impact factor:   3.857


  36 in total

1.  Intron sequences modulate feather keratin gene transcription in Xenopus oocytes.

Authors:  A M Koltunow; K Gregg; G E Rogers
Journal:  Nucleic Acids Res       Date:  1986-08-26       Impact factor: 16.971

2.  Exon/intron organization of the chicken type II procollagen gene: intron size distribution suggests a minimal intron size.

Authors:  W B Upholt; L J Sandell
Journal:  Proc Natl Acad Sci U S A       Date:  1986-04       Impact factor: 11.205

3.  Identification of an orthologous mammalian cytokeratin gene. High degree of intron sequence conservation during evolution of human cytokeratin 10.

Authors:  M Rieger; W W Franke
Journal:  J Mol Biol       Date:  1988-12-20       Impact factor: 5.469

4.  A 40-base-pair sequence in the 3' end of the beta-actin gene regulates beta-actin mRNA transcription during myogenesis.

Authors:  L DePonti-Zilli; A Seiler-Tuyns; B M Paterson
Journal:  Proc Natl Acad Sci U S A       Date:  1988-03       Impact factor: 11.205

5.  Identification of a phenotype-specific enhancer in the first intron of the rat collagen II gene.

Authors:  W Horton; T Miyashita; K Kohno; J R Hassell; Y Yamada
Journal:  Proc Natl Acad Sci U S A       Date:  1987-12       Impact factor: 11.205

6.  Identification and characterization of the human type II collagen gene (COL2A1).

Authors:  K S Cheah; N G Stoker; J R Griffin; F G Grosveld; E Solomon
Journal:  Proc Natl Acad Sci U S A       Date:  1985-05       Impact factor: 11.205

7.  A comprehensive set of sequence analysis programs for the VAX.

Authors:  J Devereux; P Haeberli; O Smithies
Journal:  Nucleic Acids Res       Date:  1984-01-11       Impact factor: 16.971

8.  The first intron of the human growth hormone gene contains a binding site for glucocorticoid receptor.

Authors:  D D Moore; A R Marks; D I Buckley; G Kapler; F Payvar; H M Goodman
Journal:  Proc Natl Acad Sci U S A       Date:  1985-02       Impact factor: 11.205

9.  Structural analyses of the polymorphic area in type II collagen gene.

Authors:  M Vikkula; L Peltonen
Journal:  FEBS Lett       Date:  1989-07-03       Impact factor: 4.124

10.  Identification of control elements 3' to the human keratin 1 gene that regulate cell type and differentiation-specific expression.

Authors:  C A Huff; S H Yuspa; D Rosenthal
Journal:  J Biol Chem       Date:  1993-01-05       Impact factor: 5.157

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  8 in total

1.  Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Authors:  S Annunen; J Körkkö; M Czarny; M L Warman; H G Brunner; H Kääriäinen; J B Mulliken; L Tranebjaerg; D G Brooks; G F Cox; J R Cruysberg; M A Curtis; S L Davenport; C A Friedrich; I Kaitila; M R Krawczynski; A Latos-Bielenska; S Mukai; B R Olsen; N Shinno; M Somer; M Vikkula; J Zlotogora; D J Prockop; L Ala-Kokko
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

2.  Expression of two novel alternatively spliced COL2A1 isoforms during chondrocyte differentiation.

Authors:  Audrey McAlinden; Brian Johnstone; John Kollar; Najam Kazmi; Thomas M Hering
Journal:  Matrix Biol       Date:  2007-10-18       Impact factor: 11.583

3.  Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

Authors:  M Melkoniemi; H G Brunner; S Manouvrier; R Hennekam; A Superti-Furga; H Kääriäinen; R M Pauli; T van Essen; M L Warman; J Bonaventure; P Miny; L Ala-Kokko
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

4.  Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.

Authors:  J Körkkö; L Ala-Kokko; A De Paepe; L Nuytinck; J Earley; D J Prockop
Journal:  Am J Hum Genet       Date:  1998-01       Impact factor: 11.025

5.  Up-regulation of type II collagen gene by 17β-estradiol in articular chondrocytes involves Sp1/3, Sox-9, and estrogen receptor α.

Authors:  Laure Maneix; Aurélie Servent; Benoît Porée; David Ollitrault; Thomas Branly; Nicolas Bigot; Noureddine Boujrad; Gilles Flouriot; Magali Demoor; Karim Boumediene; Safa Moslemi; Philippe Galéra
Journal:  J Mol Med (Berl)       Date:  2014-08-02       Impact factor: 4.599

6.  A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.

Authors:  Leah Rae Donahue; Bo Chang; Subburaman Mohan; Nao Miyakoshi; Jon E Wergedal; David J Baylink; Norman L Hawes; Clifford J Rosen; Patricia Ward-Bailey; Qing Y Zheng; Roderick T Bronson; Kenneth R Johnson; Muriel T Davisson
Journal:  J Bone Miner Res       Date:  2003-09       Impact factor: 6.741

Review 7.  Alternative splicing of type II procollagen: IIB or not IIB?

Authors:  Audrey McAlinden
Journal:  Connect Tissue Res       Date:  2014-04-18       Impact factor: 3.417

8.  Sequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosis.

Authors:  N Noponen-Hietala; E Kyllönen; M Männikkö; E Ilkko; J Karppinen; J Ott; L Ala-Kokko
Journal:  Ann Rheum Dis       Date:  2003-12       Impact factor: 19.103

  8 in total

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