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Different types of skeletal dysplasia resulted due to mutation in the GDF5 genes.
Cartilage originated morphogenetic protein-1 (CDMP) commonly recognized as Growth Differentiating Factor 5 (GDF5), is a predecessor polypeptide having 501 amino acids with seven most conserved cysteine at C-terminal.
Wilkins et al., "An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage," Human Molecular Genetics, vol.
Single nucleotide polymorphisms (SNPs) at IL-1[beta], MMP3, TGF-[beta]1, and GDF5 have been associated with risk of a wide variety of diseases, such as keratoconus, chronic periodontitis, and lumbar disc degeneration [27-29].
The association of GDF5 with OA was first reported in a Japanese population where a large-scale candidate gene association study showed that a SNP in the 5' untranslated region of GDF5 (+104T/C; rs143383) was significantly associated with hip OA.
People with lower levels of the GDF5 protein have shorter bones and less cartilage in their joints.
KEY WORDS: Acromesomelic dysplasia, Dwarfism, CDMP1, GDF5, Grebe syndrome, Pakistani subject.
One of the first genes to be associated with height, known as HMG2A, has been found to be over-abundant in many types of cancerous tumours while another height-linked gene, GDF5, is believed to be involved in osteoarthritis.
Genes which were expressed predominantly in AF-MSCs and fMSCs were vimentin (VIM), CD44, CD73, CD105, and SERPINE1 as well as osteogenic markers runt-related transcription factor 2 (RUNX2) and growth/ differentiation factor 5 (GDF5).
Genes expressed more highly in OECs were Jagged 1 (JAG1), JAG2, placental growth factor (PGF), endothelial cell-specific molecule 1 (ESM1), neurite growth-promoting factor 2 (MDK), inhibin beta A (INHBA), growth differentiation factor-3 (GDF3), pre-B-cell colony-enhancing factor 1 (PBEF1), endothelin 1 (EDN1), interleukin 32 (IL32), heparin-binding EGF-like growth factor (HBEGF), chemokine (C-X-C motif) ligand 1 (CXCL1), chemokine (C-C motif) ligand 2 (CCL2), CCL14, CCL15, bone morphogenetic protein 2 (BMP2), BMP4, and BMP6, whereas genes expressed more highly in MSCs were wingless-type MMTV integration site family, member 5A (WNT5A), CXCL5, vascular endothelial growth factor (VEGF), CCL20, angiopoietin 1 (ANGPT1), growth differentiation factor 5 (GDF5), and WNT5B (Figure 7).
The transfection-ready plasmid RG207105 Human cDNA ORF Clone of GDF5 (NM_000557) was selected as a vector.
Different key transcription factors (SOX9, SOX5, SOX6, Slug, TRSP1, and GDF5) [65-68] have a crucial role in the control of stem cells properties as well as in the chondrogenic commitment status by driving the mesenchymal condensation and differentiation [65-67].
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