Conservation and expression of an alternative 3' exon of Runx2 encoding a novel proline-rich C-terminal domain

Gene
A TerryJ C Neil

Abstract

The Runx2 (Cbfa1, Aml3, PEBP2alphaA) gene plays an essential role in bone development and is one of a three-member family of closely related genes that encode the alpha-chain DNA binding components of the heterodimeric core binding factor complex. While all three mammalian Runx genes share a complex dual promoter structure (P1, P2) and display alternative splicing, a distinctive feature of Runx2 is the potential to encode larger isoforms in which the C-terminal domain encoded by the standard 3' terminal exon (exon 6) is replaced by an extended 200-201 amino acid C-terminal sequence including an extensive proline-rich domain and a C-terminal amphipathic helix. We report that the novel exon that gives rise to these variants (exon 6.1) is located over 100 kb downstream of exon 6 in the mouse, rat and human genomes. Exon 6.1 spans a CpG-rich island, and human/rodent conservation is evident through the coding sequence and the 3' untranslated region (UTR). Reverse transcriptase polymerase chain reaction (RT-PCR) and blot hybridisation analyses reveal that exon 6.1 is utilised at low levels in all mouse tissues and cell lines that express Runx2, regardless of which promoter is active, giving Runx2 the potential to encode more than 12 ...Continue Reading

References

Jan 1, 1988·Advances in Enzyme Regulation·M Rechsteiner
Jul 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·E OgawaY Ito
Apr 16, 1996·Proceedings of the National Academy of Sciences of the United States of America·Q WangN A Speck
Aug 5, 1997·Proceedings of the National Academy of Sciences of the United States of America·M StewartJ C Neil
Sep 1, 1997·Molecular and Cellular Biology·B D AronsonJ P Gergen
May 21, 1998·Nucleic Acids Research·E Bornberg-BauerM Vingron
Jul 15, 1999·Nature Structural Biology·T NagataM H Werner
Dec 6, 2000·Seminars in Cell & Developmental Biology·J R DowningA E Yeoh
Dec 6, 2000·Seminars in Cell & Developmental Biology·J C WheelerY Ito
Jul 4, 2002·Gene·Jan Henrik EggersFlorian Otto
Sep 10, 2002·The Journal of Immunology : Official Journal of the American Association of Immunologists·François VaillantEwan R Cameron
Sep 13, 2002·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Pierluigi StrippoliMaria Zannotti
Sep 28, 2002·Nature Neuroscience·Ken-ichi InoueYoshiaki Ito

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Citations

May 3, 2005·Nature Reviews. Cancer·Karen BlythJames C Neil
Sep 8, 2009·Journal of Dental Research·J H JonasonD Chen
Apr 5, 2014·PloS One·Giselle Sek Suan NahByrappa Venkatesh
Aug 6, 2013·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Seung Hee JungYoung Ho Kim
Sep 26, 2015·International Journal of Molecular Sciences·Daniel WysokinskiElzbieta Pawlowska
Nov 10, 2009·Gene·Cindy FazendaNatércia Conceição
Sep 28, 2005·Birth Defects Research. Part C, Embryo Today : Reviews·Tania M SchroederJennifer J Westendorf
Jul 19, 2008·Journal of Cellular Physiology·Jae-Hwan JeongJe-Yong Choi
Jan 19, 2006·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·James D DoeckeNigel A Morrison
Oct 10, 2006·European Journal of Oral Sciences·Simon Camilleri, Fraser McDonald
Oct 16, 2009·American Journal of Medical Genetics. Part a·M Michael Cohen
Apr 18, 2015·International Journal of Biological Macromolecules·S VimalrajN Selvamurugan
Jan 5, 2011·Sarcoma·J W MartinJ A Squire
Jan 3, 2015·DNA and Cell Biology·Daniel WysokinskiJanusz Blasiak
Oct 26, 2016·Clinical Genetics·A JarugaP Tylzanowski
Apr 22, 2017·Bone·Gerard Karsenty, Paula Mera
Jun 21, 2017·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Andre L P TavaresRaymond B Runyan
Sep 7, 2019·Development·Renaud MevelGeorges Lacaud

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