NKX3-2 explained

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]

Further reading

Notes and References

  1. Yoshiura KI, Murray JC . Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: a candidate gene for skeletal dysplasia . Genomics . 45 . 2 . 425–428 . October 1997 . 9344671 . 10.1006/geno.1997.4926 .
  2. Lettice L, Hecksher-Sørensen J, Hill R . The role of Bapx1 (Nkx3.2) in the development and evolution of the axial skeleton . Journal of Anatomy . 199 . Pt 1-2 . 181–187 . 2001 . 11523821 . 1594973 . 10.1111/j.1469-7580.2008.00944.x .
  3. Hellemans J, Simon M, Dheedene A, Alanay Y, Mihci E, Rifai L, Sefiani A, van Bever Y, Meradji M, Superti-Furga A, Mortier G . Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia . American Journal of Human Genetics . 85 . 6 . 916–922 . December 2009 . 20004766 . 2790567 . 10.1016/j.ajhg.2009.11.005 .
  4. Tucker AS, Watson RP, Lettice LA, Yamada G, Hill RE . 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 . March 2004 . 14973294 . 10.1242/dev.01017 . 447070 .
  5. Miller CT, Yelon D, Stainier DY, Kimmel CB . Two endothelin 1 effectors, hand2 and bapx1, pattern ventral pharyngeal cartilage and the jaw joint . Development . 130 . 7 . 1353–1365 . April 2003 . 12588851 . 10.1242/dev.00339 . free .
  6. Wilson J, Tucker AS . 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 . February 2004 . 14729484 . 10.1016/j.ydbio.2003.10.012 .
  7. Lukas P, Olsson L . Bapx1 is required for jaw joint development in amphibians . Evolution & Development . 20 . 6 . 192–206 . November 2018 . 30168254 . 10.1111/ede.12267 . 52133937 .
  8. Nichols JT, Pan L, Moens CB, Kimmel CB . barx1 represses joints and promotes cartilage in the craniofacial skeleton . Development . 140 . 13 . 2765–2775 . July 2013 . 23698351 . 3678344 . 10.1242/dev.090639 . free .
  9. Lukas P, Olsson L . Bapx1 upregulation is associated with ectopic mandibular cartilage development in amphibians . Zoological Letters . 4 . 1 . 16 . 2018 . 29942645 . 5998585 . 10.1186/s40851-018-0101-3 . free .

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