Table 1 |
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|
Mouse and human T-box-containing genes |
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| Subfamily |
Gene |
Human Chromosome |
Expression |
Heterozygous phenotype in human (null phenotype of mouse homolog) |
Reference (mutations only) |
|
|
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| Brachyury |
BRACHYURY |
6 |
Primitive streak, tail bud, and notochord |
Spinal cord defects (anteroposterior axis defects) |
[22-26] |
| TBX19 (TPIT) |
1 |
Pituitary |
[49,50] |
||
| T-brain1 |
T-BRAIN1 |
2 |
Cerebral cortex |
[51] |
|
| EOMESODERMIN/ |
|||||
| (?T-BRAIN2) |
3 |
Trophoblast, early primitive streak, and cerebral cortex |
(Early postimplantation failure) |
[44,45] |
|
| TBX21 (T-BET) |
17 |
Th1 lineage, lung, and spleen (adult) |
[52] |
||
| Tbx1 |
TBX1 |
22 |
Heart and pharyngeal arges |
DiGeorge syndrome |
[38-40] |
| TBX10 |
11 |
[53] |
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| Tbx13 (MmTbx7)* |
[10] |
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| Tbx14 (MmTbx8)* |
[10] |
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| TBX15 |
1 |
Craniofacial region and limbs |
[54] |
||
| TBX18 |
6 |
Heart, somites, and limbs |
[55] |
||
| TBX20 (TBX12) |
7 |
Heart, eye, ventral neural tube, and limb |
[56,57] |
||
| TBX22 |
X |
Fetus |
[21,58] |
||
| Tbx2 |
TBX2 |
17 |
Limbs and heart |
X-linked cleft palate |
[59] |
| TBX3 (including an alternative splice form) |
12 |
Limbs and heart |
Ulnar-mammary syndrome |
[31,32] |
|
| TBX4 |
17 |
Allantois, hindlimb |
[30,60] |
||
| TBX5 (including an alternative splice form) |
12 |
Forelimb |
Holt-Oram syndrome (failure of heart development) |
[30,3,35-37] |
|
| Tbx6 |
TBX6 |
16 |
Primitive streak and tail bud |
(Respecification of posterior paraxial mesoderm as neurectoderm) |
[60] |
|
|
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|
*These sequences have been reported in mouse but not human; the human genes are hypothetical. |
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|
Wilson and Conlon Genome Biology 2002 3:reviews3008.1 doi:10.1186/gb-2002-3-6-reviews3008 |
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