Title
Differences in Fat and Muscle Mass Associated With a Functional Human Polymorphism in a Post-Transcriptional BMP2 Gene Regulatory Element
Abbreviated Journal Title
J. Cell. Biochem.
Keywords
BONE MORPHOGENETIC PROTEIN 2 (BMP2); MESSENGER RNA (mRNA); POST-TRANSCRIPTIONAL GENE REGULATION; MESENCHYMAL CELLS; SINGLE; NUCLEOTIDE POLYMORPHISM (SNP); FITNESS; POPULATION GENETICS; BONE MORPHOGENETIC PROTEIN-2; MESSENGER-RNA; MINERAL DENSITY; ADIPOGENIC; DIFFERENTIATION; OSTEOBLAST LINEAGE; ELDERLY-WOMEN; CELL-LINE; BODY-MASS; IN-VITRO; EXPRESSION; Biochemistry & Molecular Biology; Cell Biology
Abstract
A classic morphogen, bone morphogenetic protein 2 (BMP2) regulates the differentiation Of pluripotent mesenchymal cells. High BMP2 levels promote osteogenesis or chondrogenesis and low levels promote adipogenesis. BMP2 inhibits myogenesis. Thus, BMP2 synthesis is tightly controlled. Several hundred nucleotides within the 3' untranslated regions of BMP2 genes are conserved from mammals to fishes indicating that the region is under stringent selective pressure. Our analyses indicate that this region controls BMP2 synthesis by post-transcriptional mechanisms. A common A to C single nucleotide polymorphism (SNP) in the BMP2 gene (rs15705, + A1123C) disrupts a putative post-transcriptional regulatory motif within the human ultra-conserved sequence. In vitro studies indicate that RNAs hearing the A or C alleles have different protein binding characteristics in extracts front mesenchymal cells. Reporter genes with the C allele of the ultra-conserved sequence were differentially expressed in mesenchymal cells. Finally, we analyzed MRI data from the upper arm of 517 healthy individuals aged 18-41 years. Individuals with the C/C genotype were associated with lower baseline subcutaneous fat volumes (P=0.0030) and an increased gain in skeletal muscle volume (P=0.0060) following resistance training in a cohort of young males. The rs15705 SNP explained 2-4% of inter-individual variability in the measured parameters. The rs15705 variant is one of the first genetic markers that may be exploited to facilitate early diagnosis, treatment, and/or prevention of diseases associated with poor fitness. Furthermore, understanding the mechanisms by which regulatory polymorphisms influence BMP2 synthesis will reveal novel pharmaceutical targets for these disabling conditions. J. Cell. Biochem. 107: 1073-1082, 2009. (C) 2009 Wiley-Liss, Inc.
Journal Title
Journal of Cellular Biochemistry
Volume
107
Issue/Number
6
Publication Date
1-1-2009
Document Type
Article
DOI Link
Language
English
First Page
1073
Last Page
1082
WOS Identifier
ISSN
0730-2312
Recommended Citation
"Differences in Fat and Muscle Mass Associated With a Functional Human Polymorphism in a Post-Transcriptional BMP2 Gene Regulatory Element" (2009). Faculty Bibliography 2000s. 1476.
https://stars.library.ucf.edu/facultybib2000/1476
Comments
Authors: contact us about adding a copy of your work at STARS@ucf.edu