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首页> 外文期刊>Development >sall4 acts downstream of tbx5 and is required for pectoral fin outgrowth.
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sall4 acts downstream of tbx5 and is required for pectoral fin outgrowth.

机译：sall4在tbx5的下游起作用，是胸鳍向外生长所必需的。

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Okihiro syndrome (OS) is defined by forelimb defects associated with the eye disorder Duane anomaly and results from mutations in the gene SALL4. Forelimb defects in individuals with OS range from subtle thumb abnormalities to truncated limbs. Mutations in the T-box transcription factor TBX5 cause Holt-Oram syndrome (HOS), which results in forelimb and heart defects. Although mutations in TBX5 result in HOS, it has been predicted that these mutations account for only approximately 30% of all individuals with HOS. Individuals with OS and HOS limb defects are very similar, in fact, individuals with mutations in SALL4 have in some cases previously been diagnosed with HOS. Using zebrafish as a model, we have investigated the function of sall4 and the relationship between sall4 and tbx5, during forelimb development. We demonstrate that sall4 and a related gene sall1 act downstream of tbx5 and are required for pectoral fin development. Our studies of Sall gene family redundancy and tbx5 offer explanations for the similarity of individuals with OS and HOS limb defects.
机译：Okihiro综合征（OS）由与眼部疾病Duane异常有关的前肢缺陷定义，并由基因SALL4的突变引起。 OS患者的前肢缺陷范围从微妙的拇指异常到四肢截断。 T-box转录因子TBX5中的突变会导致Holt-Oram综合征（HOS），这会导致前肢和心脏缺陷。尽管TBX5中的突变会导致HOS，但据预测，这些突变仅占所有HOS个体的约30％。患有OS和HOS肢体缺陷的个体非常相似，实际上，先前在某些情况下已将SALL4突变的个体诊断为HOS。以斑马鱼为模型，我们研究了前肢发育过程中sall4的功能以及sall4与tbx5之间的关系。我们证明sall4和相关基因sall1在tbx5下游起作用，是胸鳍发育所必需的。我们对Sall基因家族冗余和tbx5的研究为OS和HOS肢体缺损的个体相似性提供了解释。

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