Literature DB >> 9707347

Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule.

T Pihlajamaa1, M M Vuoristo, S Annunen, M Perälä, D J Prockop, L Ala-Kokko.   

Abstract

Here we report the complete structure for the human COL9A1 and the complete sequence for the human COL9A2 genes. The COL9A1 gene is about 90 kb and consists of 38 exons. The COL9A2 gene is only about 15 kb, and it contains 32 exons. Sequence analysis of the promoter regions for the human COL9A2, the mouse Col9a2 and the human COL2A1 genes identified a conserved 14 bp sequence. The data also indicated that the alternative exon 1* found in intron 6 of the COL9A1 gene is separated from exon 7 only by a short intron in the chick, human, mouse and rat genes probably explaining why transcripts from exon 1* are spliced directly to exon 8.

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Year:  1998        PMID： 9707347     DOI： 10.1016/s0945-053x(98)90063-4

Source DB:  PubMed          Journal:  Matrix Biol        ISSN： 0945-053X            Impact factor:   11.583


  10 in total

1.  A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.

Authors:  C G Bönnemann; G F Cox; F Shapiro; J J Wu; C A Feener; T G Thompson; D C Anthony; D R Eyre; B T Darras; L M Kunkel
Journal:  Proc Natl Acad Sci U S A       Date:  2000-02-01       Impact factor: 11.205

2.  COL9A3: A third locus for multiple epiphyseal dysplasia.

Authors:  P Paassilta; J Lohiniva; S Annunen; J Bonaventure; M Le Merrer; L Pai; L Ala-Kokko
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

3.  Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.

Authors:  P Holden; E G Canty; G R Mortier; B Zabel; J Spranger; A Carr; M E Grant; J A Loughlin; M D Briggs
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

4.  The alpha 2 type IX collagen gene tryptophan polymorphism is not associated with rheumatoid arthritis in the Japanese population.

Authors:  Yoichiro Takata; Yoshito Matsui; Daisuke Hamada; Tomohiro Goto; Takahiro Kubo; Hiroshi Egawa; Shunji Nakano; Fumio Shinomiya; Hiroshi Inoue; Mitsuo Itakura; Natsuo Yasui
Journal:  Clin Rheumatol       Date:  2005-10-25       Impact factor: 2.980

5.  A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.

Authors:  M Czarny-Ratajczak; J Lohiniva; P Rogala; K Kozlowski; M Perälä; L Carter; T D Spector; L Kolodziej; U Seppänen; R Glazar; J Królewski; A Latos-Bielenska; L Ala-Kokko
Journal:  Am J Hum Genet       Date:  2001-09-14       Impact factor: 11.025

6.  Association of collagen I, IX and vitamin D receptor gene polymorphisms with radiological severity of intervertebral disc degeneration in Southern European Ancestor.

Authors:  Zafer Orkun Toktaş; Murat Şakir Ekşi; Baran Yılmaz; Mustafa Kemal Demir; Serdar Özgen; Türker Kılıç; Deniz Konya
Journal:  Eur Spine J       Date:  2015-09-05       Impact factor: 3.134

7.  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

Review 8.  Collagen IX gene polymorphisms and lumbar disc degeneration: a systematic review and meta-analysis.

Authors:  Huihong Wu; Siting Wang; Weiyou Chen; Xinli Zhan; Zengming Xiao; Hua Jiang; Qingjun Wei
Journal:  J Orthop Surg Res       Date:  2018-03-05       Impact factor: 2.359

9.  Col9a2 gene deletion accelerates the degeneration of intervertebral discs.

Authors:  Huihui Xu; Rui Dong; Qinghe Zeng; Liang Fang; Qinwen Ge; Chenjie Xia; Peng Zhang; Shuaijie Lv; Zhen Zou; Pinger Wang; Ju Li; Hongfeng Ruan; Songfeng Hu; Chengliang Wu; Hongting Jin; Peijian Tong
Journal:  Exp Ther Med       Date:  2022-01-07       Impact factor: 2.447

10.  Association between single nucleotide polymorphism in collagen IX and intervertebral disc disease in the Indian population.

Authors:  Tushar N Rathod; Ajay S Chandanwale; Shubhangi Gujrathi; Vinayak Patil; Shital A Chavan; Munjal N Shah
Journal:  Indian J Orthop       Date:  2012-07       Impact factor: 1.251
  10 in total

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