Jezewski P A, Fang P-K, Payne-Ferreira T L, Yelick P C
Department of Cytokine Biology, The Forsyth Institute, and Department of Oral Medicine, Infection and Immunity, Harvard School of Dental Medicine, Boston, Massachusetts, USA.
Dev Dyn. 2009 Jun;238(6):1605-12. doi: 10.1002/dvdy.21962.
Mutations in human TBX22 cause X-linked cleft palate with ankyloglossia syndrome (CPX; OMIM 303400). Since the secondary palate was an adaptation to breathing on land, we characterized zebrafish tbx22 to study molecular mechanisms regulating early vertebrate craniofacial patterning. Rapid Amplification of cDNA Ends (RACE) analyses revealed two zebrafish tbx22 splice isoforms, tbx22-1 and tbx22-2, encoding proteins of 444 and 400 amino acids, respectively. tbx22-1 resembles canonical Tbx22 orthologs, while tbx22-2 lacks conserved N-terminal sequence. Developmental RT-PCR revealed that tbx22-1 is maternally and zygotically expressed, while tbx22-2 is expressed zygotically. WISH analyses revealed strong tbx22 mRNA expression in ectomesenchyme underlying the stomodeum, a bilaminar epithelial structure demarcating early mouth formation, and in early presumptive jaw joints. Zebrafish tbx22 expression mirrored some aspects of mammalian Tbx22, consistent with roles in early vertebrate face patterning. These studies identify an early transcription factor governing vertebrate facial development, which may underlie common craniofacial birth disorders. Developmental Dynamics 238:1605-1612, 2009. (c) 2009 Wiley-Liss, Inc.
人类TBX22基因的突变会导致X连锁腭裂伴舌系带短缩综合征（CPX；OMIM 303400）。由于次生腭是对陆地呼吸的一种适应，我们对斑马鱼tbx22进行了表征，以研究调节早期脊椎动物颅面模式形成的分子机制。cDNA末端快速扩增（RACE）分析揭示了两种斑马鱼tbx22剪接异构体，tbx22-1和tbx22-2，分别编码444和400个氨基酸的蛋白质。tbx22-1类似于典型的Tbx22直系同源物，而tbx22-2缺乏保守的N端序列。发育RT-PCR显示tbx22-1在母源和合子阶段均有表达，而tbx22-2仅在合子阶段表达。全胚胎原位杂交（WISH）分析显示，tbx22 mRNA在口凹下方的外胚间充质中强烈表达，口凹是界定早期口形成的双层上皮结构，并且在早期假定的颌关节中也有表达。斑马鱼tbx22的表达反映了哺乳动物Tbx22的某些方面，这与它在早期脊椎动物面部模式形成中的作用一致。这些研究鉴定出一种调控脊椎动物面部发育的早期转录因子，它可能是常见颅面出生缺陷的基础。《发育动力学》238:1605 - 1612，2009年。（c）2009威利 - 利斯公司。
