Ch. Yi et al., Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19, GENOMICS, 55(1), 1999, pp. 10-20
Brachyury(T) is a mouse mutation, first described over 70 years ago, that c
auses defects in mesoderm formation. Recently several related genes, the T-
box gene family, that encode a similar N-terminal DNA binding domain, the T
-box, and that play critical roles in human embryonic development have been
identified. It has been shown that human TBX5 and TBX3, if mutated, cause
developmental disorders, Holt-Gram syndrome (OMIM 142900) and ulnar-mammary
syndrome (OMIM 181450), respectively. We have identified four new human me
mbers of the T-box gene family, EOMES, TBX6, TBX18, and TBX19, and these ge
nes have been mapped to different chromosomal regions by radiation hybrid m
apping. The four T-box genes were classified into four different subfamilie
s and have also been subjected to phylogenomic analysis. Human EOMES maps a
t 3p21.3-p21.2. This Tbr1-sub-family gene is likely to play a significant r
ole in early embryogenesis similar to that described for Xenopus eomesoderm
in. Human TBX6 maps at 16p12-q12. This Tbx6-subfamily gene is likely to par
ticipate in paraxial mesoderm formation and somitogenesis in human embryo.
TBX18 is a novel member of the Tbx1 subfamily that maps at 6q14-q15. Two su
bgroups, TBX1/10 and TBX15/18 subgroups, could be distinguished within the
Tbx1 subfamily. TBX19 is an orthologue of chick TbxT and maps at 1q23-q24.
The genomic organization of TBX19 is highly similar to that of human T(Brac
hyury), another human member of the same subfamily. (C) 1999 Academic Press
.