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Formation of the sinus node head and differentiation of sinus node myocardium are independently regulated by Tbx18 and Tbx3. Bamshad, M., Le, T., Watkins, W. S., Dixon, M. E., Kramer, B. E., Roeder, A. D., Carey, J. C., Root, S., Schinzel, A., Van Maldergem, L., Gardner, R. J. M., Lin, R. C., Seidman, C. E., Seidman, J. G., Wallerstein, R., Moran, E., Sutphen, R., Campbell, C. E., Jorde, L. B. Li et al. (1997) pointed out that TBX3 may be a candidate gene for Noonan syndrome ( 163950) and ulnar-mammary syndrome (UMS; 181450). The latter possibility indeed proved to be the case; Bamshad et al. (1997) demonstrated mutations in TBX3 in 2 families with ulnar-mammary syndrome ( 602621.0001- 602621.0002). Each mutation was predicted to cause haploinsufficiency of TBX3, implying that critical levels of this transcription factor are required for morphogenesis of several organs. Limb abnormalities of ulnar-mammary syndrome involve posterior elements. Mutations in TBX5 cause anterior limb abnormalities in Holt-Oram syndrome. Because of similarities in structure and function of TBX3 and TBX5 and because of close linkage, Bamshad et al. (1997) proposed that these genes originated from a common ancestral gene, each having acquired specific complementary roles in patterning the mammalian upper limb.

In a Czech mother and 2 daughters who were diagnosed with Holt-Oram syndrome, Borozdin et al. (2006) identified a 2.19 to 2.27-Mb contiguous deletion encompassing the TBX5 and TBX3 genes. Clinical reexamination confirmed the presence of features of ulnar-mammary syndrome that were previously unrecognized. Borozdin et al. (2006) noted that the contiguous deletion also included the RBM19 gene (616444), but commented that it was unlikely to contribute to or modify the phenotype since all the anomalies present in the affected individuals could be explained by either TBX5 or TBX3 haploinsufficiency. Sowden et al. (2001) examined the role of Drosophila 'optomotor blind' (omb)-related T-box genes in the development of human and mouse retina. Murine Tbx2 ( 600747), Tbx3, and Tbx5 and human TBX2 cDNAs were isolated from retina cDNA libraries by hybridization to the Drosophila omb gene. Human and mouse TBX2, TBX3, and TBX5 were expressed asymmetrically across the embryonic neural retina, with highest levels of mRNA within dorsal and peripheral retina. The dorsoventral gradient of TBX2 expression disappeared before the ganglion cell layer (GCL) formed. Its expression became restricted to the inner neuroblastic retina and later to the GCL and inner nuclear layer (INL). The dorsal expression domains of TBX5 and TBX3 were maintained during formation of the GCL. As the retina matured, TBX3 expression was restricted to the INL, and TBX5 was expressed within the GCL. The authors concluded that the expression patterns of TBX2, TBX3, and TBX5 within the developing retina support the idea that the encoded transcription factors play a role in providing positional information important for topographic mapping in differentiation of distinct cell types across the laminar axis of the retina. Hiroi et al. (2001) found that TBX5 associates with NKX2-5 (600584) and synergistically promotes cardiomyocyte differentiation. Both directly bind to the promoter of the gene encoding cardiac-specific natriuretic peptide precursor type A (NPPA; 108780) in tandem, and the 2 transcription factors show synergistic activation. P19CL6 cells efficiently differentiate into beating cardiomyocytes expressing cardiac-specific genes after treatment with 1% dimethyl sulfoxide (DMSO). Hiroi et al. (2001) found that P19CL6 cell lines overexpressing wildtype Tbx5 started to beat earlier and expressed cardiac-specific genes more abundantly than did parental P19CL6 cells, whereas cell lines expressing the G80R mutation (601620.0004), which causes substantial cardiac defects with minor skeletal abnormalities in HOS, did not differentiate into beating cardiomyocytes. Contrariwise, the R237Q mutation (601620.0003), which causes upper limb malformations without cardiac abnormalities, activated the Nppa promoter to an extent similar to that of wildtype TBX5. The definition of terminal illness is an illness or condition which cannot be cured and is likely to lead to the death of a patient. Palliative Care is a patient requiring support at end of life. Sowden et al. (2001) examined the role of Drosophila 'optomotor blind' (omb)-related T-box genes in the development of human and mouse retina. Murine Tbx2, Tbx3, and Tbx5 and human TBX2 cDNAs were isolated from retina cDNA libraries by hybridization to the Drosophila omb gene. Human and mouse TBX2, TBX3, and TBX5 were expressed asymmetrically across the embryonic neural retina, with highest levels of mRNA within dorsal and peripheral retina. The dorsoventral gradient of TBX2 expression disappeared before the ganglion cell layer (GCL) formed. Its expression became restricted to the inner neuroblastic retina and later to the GCL and inner nuclear layer (INL). The dorsal expression domains of TBX5 and TBX3 were maintained during formation of the GCL. As the retina matured, TBX3 expression was restricted to the INL, and TBX5 was expressed within the GCL. The authors concluded that the expression patterns of TBX2, TBX3, and TBX5 within the developing retina support the idea that the encoded transcription factors play a role in providing positional information important for topographic mapping in differentiation of distinct cell types across the laminar axis of the retina.

In a 10-year-old girl with isolated bilateral dorsalization of her fifth fingers and slightly deep fourth web spaces, Al-Qattan et al. (2020) identified a de novo heterozygous 2-basepair duplication in the TBX3 gene ( 601621.0008), resulting in frameshift and premature termination of the protein. The authors suggested that these clinical findings should be considered a forme fruste phenotype of ulnar-mammary syndrome. Liquid Chromatography Coupled to Mass Spectrometry (LC-MS) Detection and Principal Component Analysis (PCA) Human mutations in TBX5, a gene encoding a T-box transcription factor, and SALL4 ( 607343), a gene encoding a zinc finger transcription factor, cause similar upper limb and heart defects. Mutations in SALL4 are responsible for the Duane-radial ray syndrome ( 607323); mutations in TBX5 are responsible for the Holt-Oram syndrome ( 142900). Koshiba-Takeuchi et al. (2006) showed that Tbx5 regulates Sall4 expression in the developing mouse forelimb and heart; mice heterozygous for a gene trap allele of Sall4 showed limb and heart defects that modeled human disease. Tbx5 and Sall4 interacted both positively and negatively to finely regulate patterning and morphogenesis of the anterior forelimb and heart. Thus, a positive and negative feed-forward circuit between Tbx5 and Sall4 ensures precise patterning of embryonic limb and heart and provides a unifying mechanism for heart/hand syndromes.

Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development. Tbx5 and Tbx4 are not sufficient to determine limb-specific morphologies but have common roles in initiating limb outgrowth.

Conclusion

Using lineage tracing in mice, Wang et al. (2015) found that Axin2 (604025) identifies a population of proliferating and self-renewing cells adjacent to the central vein in the liver lobule. These pericentral cells express the early liver progenitor marker Tbx3 and are diploid, and thereby differ from mature hepatocytes, which are mostly polyploid. The descendants of pericentral cells differentiate into Tbx3-negative, polyploid hepatocytes, and can replace all hepatocytes along the liver lobule during homeostatic renewal. Adjacent central vein endothelial cells provide Wnt signals that maintain the pericentral cells, thereby constituting the niche. Wang et al. (2015) concluded that they identified a cell population in the liver that subserves homeostatic hepatocyte renewal, characterizes its anatomic niche, and identifies molecular signals that regulate its activity. In affected members of a large 3-generation Turkish family segregating autosomal dominant ulnar-mammary syndrome, Wollnik et al. (2002) identified heterozygosity for a frameshift mutation in TBX3 (601621.0004).

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