TY - JOUR
T1 - T-genes and limb bud development
AU - King, Mary
AU - Arnold, Jelena S.
AU - Shanske, Alan
AU - Morrow, Bernice E.
PY - 2006/7/1
Y1 - 2006/7/1
N2 - The T-box family of transcriptional factors is ancient and highly conserved among most species of animals. Haploinsufficiency of multiple T-box proteins results in severe human congenital malformation syndromes, involving craniofacial, cardiovascular, and skeletal structures. These genes have major roles in embryogenesis, including the development of the limbs. Formation of the limbs begins with a limb bud and its morphogenesis requires complex epithelial-mesenchymal interactions. Recent studies have shown that T, Tbx2, Tbx3, Tbx4, Tbx5, Tbx15, and Tbx18 are all expressed in the limb buds, and many have developmental functions. The study of these genes is clinically relevant as mutations in several of them cause human congenital malformation syndromes. Furthermore, understanding the function and biology of these genes is important in understanding normal embryogenesis.
AB - The T-box family of transcriptional factors is ancient and highly conserved among most species of animals. Haploinsufficiency of multiple T-box proteins results in severe human congenital malformation syndromes, involving craniofacial, cardiovascular, and skeletal structures. These genes have major roles in embryogenesis, including the development of the limbs. Formation of the limbs begins with a limb bud and its morphogenesis requires complex epithelial-mesenchymal interactions. Recent studies have shown that T, Tbx2, Tbx3, Tbx4, Tbx5, Tbx15, and Tbx18 are all expressed in the limb buds, and many have developmental functions. The study of these genes is clinically relevant as mutations in several of them cause human congenital malformation syndromes. Furthermore, understanding the function and biology of these genes is important in understanding normal embryogenesis.
KW - Limb bud development
KW - SHFM
KW - T-box genes
UR - http://www.scopus.com/inward/record.url?scp=33745626487&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33745626487&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.31250
DO - 10.1002/ajmg.a.31250
M3 - Review article
C2 - 16688725
AN - SCOPUS:33745626487
SN - 1552-4825
VL - 140
SP - 1407
EP - 1413
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 13
ER -