Cloning and expression analysis of the chick ortholog of TBX22, the gene mutated in X-linked cleft palate and ankyloglossia.
T-box genes constitute a conserved gene family with important roles in many developmental processes. Several family members have been implicated in human congenital diseases. Recently, mutations in TBX22 were found to cause X-linked cleft palate (CPX and ankyloglossia), a semidominant X-linked disorder affecting formation of the secondary palate. Here, we have cloned the chick ortholog of human TBX22 and have analyzed its expression during embryogenesis. Expression is very prominent in the somites and in the myotome, and in the mandible and maxilla of the developing jaw. Other sites of expression include the limbs, the cranial mesenchyme and the eye. Hence, Tbx22 expression domains encompass the regions important for the development of the disease phenotype.
Abt Molekulare Embryologie, Max-Planck-Institut für Immunbiologie, Stübeweg 51, 79108 Freiburg, Germany.
Bénédicte
B
Haenig
Corina
C
Schmidt
Florian
F
Kraus
Markus
M
Pfordt
Andreas
A
Kispert
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002642:Chick Embryo; D002645:Chickens / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics; D002972:Cleft Palate / Q000196:embryology / Q000235:genetics; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D018507:Gene Expression Regulation, Developmental; D008040:Genetic Linkage; D006801:Humans; D017403:In Situ Hybridization; D008035:Lingual Frenum / Q000002:abnormalities; D008969:Molecular Sequence Data; D009154:Mutation; D017386:Sequence Homology, Amino Acid; D019170:Somites / Q000378:metabolism; D020825:T-Box Domain Proteins / Q000235:genetics*
D018076:DNA, Complementary; D020825:T-Box Domain Proteins; C416943:TBX22 protein, human