Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19.
Brachyury(T) is a mouse mutation, first described over 70 years ago, that causes 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-Oram syndrome (OMIM 142900) and ulnar-mammary syndrome (OMIM 181450), respectively. We have identified four new human members of the T-box gene family, EOMES, TBX6, TBX18, and TBX19, and these genes have been mapped to different chromosomal regions by radiation hybrid mapping. The four T-box genes were classified into four different subfamilies and have also been subjected to phylogenomic analysis. Human EOMES maps at 3p21.3-p21.2. This Tbr1-subfamily gene is likely to play a significant role in early embryogenesis similar to that described for Xenopus eomesodermin. Human TBX6 maps at 16p12-q12. This Tbx6-subfamily gene is likely to participate in paraxial mesoderm formation and somitogenesis in human embryo. TBX18 is a novel member of the Tbx1 subfamily that maps at 6q14-q15. Two subgroups, 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(Brachyury), another human member of the same subfamily.
Yi
C H
CH
School of Clinical Laboratory Sciences, University of Nottingham, Queen's Medical Centre, Nottingham, NG7 2UH.
Terrett
J A
JA
Li
Q Y
QY
Ellington
K
K
Packham
E A
EA
Armstrong-Buisseret
L
L
McClure
P
P
Slingsby
T
T
Brook
J D
JD
D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002885:Chromosomes, Human, Pair 16; D002893:Chromosomes, Human, Pair 3; D002896:Chromosomes, Human, Pair 6; D004268:DNA-Binding Proteins / Q000235:genetics; D020224:Expressed Sequence Tags; D018398:Homeodomain Proteins; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D005810:Multigene Family; D010802:Phylogeny; D011401:Promoter Regions, Genetic; D016415:Sequence Alignment; D020825:T-Box Domain Proteins; D014157:Transcription Factors / Q000235:genetics*; D029867:Xenopus Proteins; D029961:Zebrafish Proteins
D004268:DNA-Binding Proteins; C491199:EOMES protein, human; C491198:Eomes protein, mouse; D018398:Homeodomain Proteins; D020825:T-Box Domain Proteins; C486589:TBX19 protein, human; C491182:TBX6 protein, human; C424031:Tbx19 protein, mouse; C491181:Tbx6 protein, Xenopus; C102932:Tbx6 protein, mouse; D014157:Transcription Factors; D029867:Xenopus Proteins; D029961:Zebrafish Proteins; C112539:tbx16 protein, zebrafish; C491180:tbx6 protein, zebrafish