TBX6 explained

T-box 6 is a protein that in humans is encoded by the TBX6 gene.^[1]

Function

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures.^[1]

Tbx6 is also required for the segmentation of the paraxial mesoderm into somites, and for the normal development of the dermomyotome in zebrafish. In the absence of Tbx6, the central dermomyotome of zebrafish fails to develop.^[2]

Tbx6 functions in a gene regulatory network with mesp-b and ripply1.^[3]

Further reading

• Farin HF, Bussen M, Schmidt MK, Singh MK, Schuster-Gossler K, Kispert A . Transcriptional repression by the T-box proteins Tbx18 and Tbx15 depends on Groucho corepressors . The Journal of Biological Chemistry . 282 . 35 . 25748–59 . Aug 2007 . 17584735 . 10.1074/jbc.M703724200 . free .
• Sandbacka M, Laivuori H, Freitas É, Halttunen M, Jokimaa V, Morin-Papunen L, Rosenberg C, Aittomäki K . TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia . Orphanet Journal of Rare Diseases . 8 . 125 . 2013 . 23954021 . 3847609 . 10.1186/1750-1172-8-125 . free .
• Yi CH, Terrett JA, Li QY, Ellington K, Packham EA, Armstrong-Buisseret L, McClure P, Slingsby T, Brook JD . Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19 . Genomics . 55 . 1 . 10–20 . Jan 1999 . 9888994 . 10.1006/geno.1998.5632 .
• Papapetrou C, Putt W, Fox M, Edwards YH . The human TBX6 gene: cloning and assignment to chromosome 16p11.2 . Genomics . 55 . 2 . 238–41 . Jan 1999 . 9933572 . 10.1006/geno.1998.5646 .
• Fei Q, Wu Z, Wang H, Zhou X, Wang N, Ding Y, Wang Y, Qiu G . The association analysis of TBX6 polymorphism with susceptibility to congenital scoliosis in a Chinese Han population . Spine . 35 . 9 . 983–8 . Apr 2010 . 20228709 . 10.1097/BRS.0b013e3181bc963c . 24945871 .
• Sparrow DB, McInerney-Leo A, Gucev ZS, Gardiner B, Marshall M, Leo PJ, Chapman DL, Tasic V, Shishko A, Brown MA, Duncan EL, Dunwoodie SL . Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6 . Human Molecular Genetics . 22 . 8 . 1625–31 . Apr 2013 . 23335591 . 10.1093/hmg/ddt012 . free .
• Ghebranious N, Blank RD, Raggio CL, Staubli J, McPherson E, Ivacic L, Rasmussen K, Jacobsen FS, Faciszewski T, Burmester JK, Pauli RM, Boachie-Adjei O, Glurich I, Giampietro PF . A missense T (Brachyury) mutation contributes to vertebral malformations . Journal of Bone and Mineral Research . 23 . 10 . 1576–83 . Oct 2008 . 18466071 . 10.1359/jbmr.080503 . 559122 . free .

Notes and References

1. Web site: Entrez Gene: T-box 6 .
2. Windner SE, Bird NC, Patterson SE, Doris RA, Devoto SH . Fss/Tbx6 is required for central dermomyotome cell fate in zebrafish . Biology Open . 1 . 8 . 806–14 . Aug 2012 . 23213474 . 3507223 . 10.1242/bio.20121958 .
3. Windner SE, Doris RA, Ferguson CM, Nelson AC, Valentin G, Tan H, Oates AC, Wardle FC, Devoto SH . Tbx6, Mesp-b and Ripply1 regulate the onset of skeletal myogenesis in zebrafish . Development . 142 . 6 . 1159–68 . Mar 2015 . 25725067 . 10.1242/dev.113431 . 4360180.