PMID: 11606192Oct 19, 2001Paper

Characterization of the human and mouse genes for the alpha subunit of type II prolyl 4-hydroxylase. Identification of a previously unknown alternatively spliced exon and its expression in various tissues

European Journal of Biochemistry
Minna NokelainenJohanna Myllyharju

Abstract

Prolyl 4-hydroxylase (4-PH) catalyzes the formation of 4-hydroxyproline in -X-Pro-Gly- sequences and has a central role in the synthesis of all collagens. We report here on the cloning and characterization of the genes encoding the catalytic alpha(II) subunits of the human and mouse type II 4-PH [alpha(II)]2beta2 tetramers. The human and mouse genes are approximately 34.6 kb and 30.3 kb in size, respectively, and both consist of 16 exons. The translation initiation codons are located in exon 2, and the sizes of the exons consisting entirely of coding sequences are conserved in the two genes, varying from 54 to 240 bp, whereas the exons 1, containing the transcription initiation sites and 5' untranslated sequences, are 546 bp and 293 bp in the human and mouse, respectively. The sizes of the introns vary from 48 to 49 bp to over 8 kb in both genes. The 5' flanking regions contain no TATA box, but they and introns 1 contain several motifs that may act as transcription factor binding sites, including those for Sox9, which regulates chondrocyte-specific expression of collagens II, IX and XI. Unlike the human alpha(I) gene, the alpha(II) genes do not contain an alternatively spliced exon homologous to exon 9. However, a novel mutuall...Continue Reading

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Citations

Apr 26, 2003·Matrix Biology : Journal of the International Society for Matrix Biology·Johanna Myllyharju
May 28, 2010·Neuro-oncology·Benjamin BergerMarkus Weiler
Nov 24, 2004·Comparative Biochemistry and Physiology. Toxicology & Pharmacology : CBP·Michael FählingBernd-Joachim Thiele
Sep 23, 2003·The Journal of Biological Chemistry·Liisa KukkolaJohanna Myllyharju
Jul 1, 2021·Oncology Letters·Yuying WuXinhua Zhang
Nov 20, 2018·The Journal of Investigative Dermatology·Aithne AtkinsonNelofer Syed

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