Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4.

Cells, Tissues, Organs
J T WrightC W Gibson

Abstract

Amelogenesis imperfecta (AI) is caused by AMEL, ENAM, MMP20 and KLK4 gene mutations. Mice lacking expression of the AmelX, Enam and Mmp20 genes have been generated. These mouse models provide tools for understanding enamel formation and AI pathogenesis. This study describes the AI phenotypes and relates them to their mouse model counterparts. Human AI phenotypes were determined in a clinical population of AI families and published cases. Human and murine teeth were evaluated using light and electron microscopy. A total of 463 individuals from 54 families were evaluated and mutations in the AMEL, ENAM and KLK4 genes were identified. The majority of human mutations for genes coding enamel nonproteinase proteins (AMEL and ENAM) resulted in variable hypoplasia ranging from local pitting to a marked, generalized enamel thinning. Specific AMEL mutations were associated with abnormal mineralization and maturation defects. Amel and Enam null murine models displayed marked enamel hypoplasia and a complete loss of prism structure. Human mutations in genes coding for the enamel proteinases (MMP20 and KLK4) cause variable degrees of hypomineralization. The murine Mmp20 null mouse exhibits both hypoplastic and hypomineralized defects. The c...Continue Reading

References

Jun 15, 2001·The Journal of Biological Chemistry·C W GibsonA B Kulkarni
Apr 2, 2002·Archives of Oral Biology·P S HartJ T Wright
Oct 24, 2002·The Journal of Biological Chemistry·John J CaterinaJohn D Bartlett
Dec 20, 2002·Connective Tissue Research·James P Simmer, Jan C C Hu
Dec 6, 2003·Critical Reviews in Oral Biology and Medicine : an Official Publication of the American Association of Oral Biologists·J C-C Hu, Y Yamakoshi
Jul 6, 2004·Journal of Medical Genetics·P S HartJ T Wright
Oct 26, 2005·Journal of Dental Research·D OzdemirT C Hart
Oct 26, 2005·Journal of Dental Research·D OzdemirT C Hart
May 6, 2006·European Journal of Oral Sciences·Jung-Wook KimJan C-C Hu
Jul 14, 2006·American Journal of Medical Genetics. Part a·J Timothy Wright
Oct 7, 2006·Human Genetics·Gustavo MendozaPragna I Patel
Mar 27, 2007·Journal of Dental Research·C W GibsonJ T Wright
Jul 27, 2007·Journal of Dental Research·H SeedorfM Hrabe de Angelis
Feb 7, 2008·The Journal of Biological Chemistry·Jan C-C HuJames P Simmer

❮ Previous
Next ❯

Citations

Nov 2, 2005·Nature Reviews. Neuroscience·Steven Laureys
Apr 28, 2012·British Dental Journal·K GadhiaK Malik
Apr 2, 2011·The Journal of Biological Chemistry·Charles E SmithJames P Simmer
Aug 27, 2013·Human Molecular Genetics·Xiao LiBrad A Amendt
Oct 16, 2009·Journal of Dental Research·Y DingJ C-C Hu
Aug 11, 2011·Journal of Dental Research·R S LacruzM L Paine
Sep 16, 2011·Journal of Dental Research·M K PugachR G Lindemeyer
Sep 19, 2009·PLoS Genetics·Rob DeSalle
May 9, 2014·Journal of Human Evolution·Julie E HorvathChristine E Wall
Jul 6, 2010·Acta histochemica·Takashi SawadaTakaaki Yanagisawa
May 23, 2009·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Yuguang GaoJuanjuan Zhang
Mar 14, 2012·European Journal of Oral Sciences·Florencia MuñozAna Hernández
Jan 25, 2012·European Journal of Oral Sciences·J Tim WrightCarolyn W Gibson
Jan 25, 2012·European Journal of Oral Sciences·Kazuhiko Kawasaki, Tohru Suzuki
Jan 25, 2012·European Journal of Oral Sciences·Charles E SmithJames P Simmer
Jan 25, 2012·European Journal of Oral Sciences·Shih-Kai WangJan C-C Hu
May 22, 2010·European Journal of Oral Sciences·Amer SehicHarald Osmundsen
Jul 10, 2010·Biochimie·Peter GoettigHans Brandstetter
Oct 27, 2009·American Journal of Human Genetics·Walid El-SayedAlan J Mighell
Oct 4, 2014·Frontiers in Physiology·Megan K Pugach, Carolyn W Gibson
Jul 3, 2016·Journal of Dental Research·E Y ChuT C Cox
Aug 29, 2014·Brazilian Oral Research·Fernanda Veronese OliveiraThais Marchini Oliveira
Feb 26, 2015·Journal of Dental Research·Y NakayamaB Ganss
Jan 29, 2014·Journal of Dental Research·J E SchmitzY-H P Chun
May 5, 2017·Physiological Reviews·Rodrigo S LacruzMichael L Paine
Nov 20, 2018·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Atukorallaya Devi Sewvandini AtukoralaRavindra Ratnayake
May 30, 2019·PLoS Computational Biology·Teemu J HäkkinenJukka Jernvall
Sep 14, 2017·PloS One·Clément ZanolliCatherine Mollereau
Jul 4, 2017·Frontiers in Physiology·Claire M GabeJennifer Kirkham
Nov 20, 2014·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Nastaran AbbarinBernhard Ganss

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.