“TBX15”的意思、由来-开放百科全书

T-box transcription factor TBX15 is protein that in humans is encoded by the TBX15 gene.

TBX15 is a transcription factor involved in many developmental processes. TBX15 is a member of the T-box 1 subfamily and has been mapped to Chromosome 3.^[1] TBX15 is important in the development of the skeletal system. it is mainly associated with the development of the limbs, spinal column, and head. In particular, TBX15 is shown to influence the development of the scapula or shoulder blade.^[2]

Clinical significance

Mutations of the TBX15 gene can cause a disease called Cousin Syndrome. This disease is associated with short stature, head and facial deformities, and underdevelopment of the shoulder blade and pelvis.^[3] Candille et al. showed that TBX15 is also associated with a genetic mutation in mice called droopy ear. Droopy ear is a genetic mutation resulting in craniofacial malformations most notably ears in abnormal locations. Droopy ear is associated with a deletion of a portion of the TBX15 gene. Droopy ear is also associated with abnormal skin color characteristics in mice. This shows another effect of the TBX15 gene which is helping to establishment of dorsoventral patterning of skin/ fur color.^[4]

References

1. ^{{cite journal | vauthors = Agulnik SI, Papaioannou VE, Silver LM | title = Cloning, mapping, and expression analysis of TBX15, a new member of the T-Box gene family | journal = Genomics | volume = 51 | issue = 1 | pages = 68–75 | date = July 1998 | pmid = | doi = 10.1006/geno.1998.5278 | access-date = }}
2. ^{{cite journal | vauthors = Singh MK, Petry M, Haenig B, Lescher B, Leitges M, Kispert A | title = The T-box transcription factor Tbx15 is required for skeletal development | journal = Mechanisms of Development | volume = 122 | issue = 2 | pages = 131–44 | date = February 2005 | pmid = 15652702 | doi = 10.1016/j.mod.2004.10.011 }}
3. ^{{cite journal | vauthors = Lausch E, Hermanns P, Farin HF, Alanay Y, Unger S, Nikkel S, Steinwender C, Scherer G, Spranger J, Zabel B, Kispert A, Superti-Furga A | title = TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome | journal = American Journal of Human Genetics | volume = 83 | issue = 5 | pages = 649–55 | date = November 2008 | pmid = 19068278 | pmc = 2668032 | doi = 10.1016/j.ajhg.2008.10.011 }}
4. ^{{cite journal | vauthors = Candille SI, Van Raamsdonk CD, Chen C, Kuijper S, Chen-Tsai Y, Russ A, Meijlink F, Barsh GS | title = Dorsoventral patterning of the mouse coat by Tbx15 | journal = PLoS Biology | volume = 2 | issue = 1 | pages = E3 | date = January 2004 | pmid = 14737183 | pmc = 314463 | doi = 10.1371/journal.pbio.0020003 }}