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.[5]
Function
NKX3-2 plays a role in the development of the axial and limb skeleton.[6] Mutations disrupting the function of this gene are associated with spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD).[7] Nkx3-2 in mice also regulates patterning in the middle ear.[8] 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,[9] chicken,[10] and amphibians.[11] Overexpression of this gene results in the development of ectopic mandibular cartilages in zebrafish [12] and amphibians.[13]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000109705 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000049691 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Yoshiura KI, Murray JC (October 1997). "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. doi:10.1006/geno.1997.4926. PMID 9344671.
- ^ Lettice L, Hecksher-Sørensen J, Hill R (2001). "The role of Bapx1 (Nkx3.2) in the development and evolution of the axial skeleton". J. Anat. 199 (Pt 1–2): 181–7. doi:10.1111/j.1469-7580.2008.00944.x. PMC 1594973. PMID 11523821.
- ^ Hellemans J, Simon M, Dheedene A, Alanay Y, Mihci E, Rifai L, Sefiani A, van Bever Y, Meradji M (2009). "Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia". The American Journal of Human Genetics. 85 (6): 916–922. doi:10.1016/j.ajhg.2009.11.005. PMC 2790567. PMID 20004766.
- ^ Tucker AS, Watson RP, Lettice LA, Yamada G, Hill RE (2004). "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. doi:10.1242/dev.01017. PMID 14973294. S2CID 447070.
- ^ Miller CT (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.
- ^ Wilson J, Tucker AS (2004). "Fgf and Bmp signals repress the expression of Bapx1 in the mandibular mesenchyme and control the position of the developing jaw joint". Developmental Biology. 266 (1): 138–150. doi:10.1016/j.ydbio.2003.10.012. PMID 14729484.
- ^ Lukas P, Olsson L (2018). "Bapx1 is required for jaw joint development in amphibians". Evolution & Development. 20 (6): 192–206. doi:10.1111/ede.12267. ISSN 1525-142X. PMID 30168254. S2CID 52133937.
- ^ Nichols J, Pan L, Moens C, Kimmel C (2013). "barx1 represses joints and promotes cartilage in the craniofacial skeleton". Development. 140 (13): 2765–2775. doi:10.1242/dev.090639. ISSN 0950-1991. PMC 3678344. PMID 23698351.
- ^ Lukas P, Olsson L (2018). "Bapx1 upregulation is associated with ectopic mandibular cartilage development in amphibians". Zoological Letters. 4 (1): 16. doi:10.1186/s40851-018-0101-3. PMC 5998585. PMID 29942645.
Further reading
- Rainbow RS, Heenam K, Li Z, et al. (2014). "The role of Nkx3.2 in chondrogenesis". Frontiers in Biology. 9 (5): 376–381. doi:10.1007/s11515-014-1321-3. PMC 4859764. PMID 4859764.
- Provot S, Kempf H, Murtaugh LC, Chung U, Kim DW, Chyung J, Kronenberg HM, Lassar, AB, et al. (2006). "Nkx3.2/Bapx1 acts as a negative regulator of chondrocyte maturation". Development. 133 (4): 651–662. doi:10.1242/dev.02258. PMID 16421188. S2CID 18519312.
External links
- Bapx1+protein,+mouse at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
 | This article on a gene on human chromosome 4 is a stub. You can help Wikipedia by expanding it. |
This page was last edited on 17 January 2024, at 11:47