Biology:NKX3-2

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example


NK3 homeobox 2 also known as NKX3-2 is a human gene. It is a homolog of bagpipe (bap) in Drosophila and therefore also known as Bapx1 (bagpipe homeobox homolog 1). The protein encoded by this gene is a homeodomain containing transcription factor.[1]

Function

NKX3-2 plays a role in the development of the axial and limb skeleton.[2] Mutations disrupting the function of this gene are associated with spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD).[3] Nkx3-2 in mice also regulates patterning in the middle ear.[4] Two small bones in the middle ear, the malleus and incus, are homologous to the articular and quadrate, the bones of the proximal jaw joint in fish and other non-mammalian jawed vertebrates. NKX3-2 expression is required to pattern the articulated joint between these jaw bones, as knockdowns or knockouts of this gene result in the loss of the jaw joint in zebrafish,[5] chicken,[6] and amphibians.[7] Overexpression of this gene results in the development of ectopic mandibular cartilages in zebrafish [8] and amphibians.[9]

References

  1. ↑ "Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: a candidate gene for skeletal dysplasia". Genomics 45 (2): 425–8. October 1997. doi:10.1006/geno.1997.4926. PMID 9344671. 
  2. ↑ "The role of Bapx1 (Nkx3.2) in the development and evolution of the axial skeleton". J. Anat. 199 (Pt 1–2): 181–7. 2001. doi:10.1111/j.1469-7580.2008.00944.x. PMID 11523821. 
  3. ↑ Hellemans, Jan; Simon, Marleen; Dheedene, Annelies; Alanay, Yasemin; Mihci, Ercan; Rifai, Laila; Sefiani, Abdelaziz; van Bever, Yolande et al. (2009). "Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia" (in en). The American Journal of Human Genetics 85 (6): 916–922. doi:10.1016/j.ajhg.2009.11.005. PMID 20004766. 
  4. ↑ "Bapx1 regulates patterning in the middle ear: altered regulatory role in the transition from the proximal jaw during vertebrate evolution". Development 131 (6): 1235–1245. 2004. doi:10.1242/dev.01017. PMID 14973294. 
  5. ↑ Miller, C. T. (2003). "Two endothelin 1 effectors, hand2 and bapx1, pattern ventral pharyngeal cartilage and the jaw joint". Development 130 (7): 1353–1365. doi:10.1242/dev.00339. PMID 12588851. 
  6. ↑ Wilson, Joanne; Tucker, Abigail S (2004). "Fgf and Bmp signals repress the expression of Bapx1 in the mandibular mesenchyme and control the position of the developing jaw joint" (in en). Developmental Biology 266 (1): 138–150. doi:10.1016/j.ydbio.2003.10.012. PMID 14729484. 
  7. ↑ Lukas, Paul; Olsson, Lennart (2018). "Bapx1 is required for jaw joint development in amphibians" (in en). Evolution & Development 20 (6): 192–206. doi:10.1111/ede.12267. ISSN 1525-142X. PMID 30168254. 
  8. ↑ Nichols, James; Pan, Luyuan; Moens, Cecilia; Kimmel, Charles (2013). "barx1 represses joints and promotes cartilage in the craniofacial skeleton" (in en). Development 140 (13): 2765–2775. doi:10.1242/dev.090639. ISSN 0950-1991. PMID 23698351. 
  9. ↑ Lukas, Paul; Olsson, Lennart (2018). "Bapx1 upregulation is associated with ectopic mandibular cartilage development in amphibians" (in en). Zoological Letters 4 (1): 16. doi:10.1186/s40851-018-0101-3. PMID 29942645. 


Further reading

External links




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