Qian Li, Bodmer Rolf
NASCR Center, Burnham Institute for Medical Research, La Jolla, CA 92037, USA.
Hum Mol Genet. 2009 Sep 1;18(17):3153-63. doi: 10.1093/hmg/ddp254. Epub 2009 Jun 3.
The GATA transcription factor encoded by pannier (pnr) is a critical regulator of heart progenitor formation in Drosophila. Mutations in GATA4, the mammalian homolog of pnr, have also been implicated in causing human cardiac disease in a haploinsufficient manner. Mouse models of Gata4 loss-of-function and gain-of-function studies underscored the importance of Gata4 in regulating cardiac progenitor cells specification and differentiation. However, it is not known whether pnr/Gata4 is directly involved in establishing and maintaining adult heart physiology because of the lethality associated with defective heart function and redundancy among various GATA factors in vertebrates. Here, we took advantage of the Drosophila heart model to examine the function of pnr in adult heart physiology. We found that pnr heterozygous mutants result in defective cardiac performance in response to electrical pacing of the heart as well as in elevated arrhythmias. Adult-specific disruption of pnr function using a dominant-negative form pnrEnR revealed a cardiac autonomous requirement of pnr in regulating heart physiology. Moreover, we identified Tbx20/neuromancer (nmr) as a potential downstream mediator of pnr in regulating cardiac performance and rhythm regularity, based on the observation that overexpression of nmr genes, but not of tinman, partially rescues the adult defects in pnr mutants. We conclude that pnr is not only essential for early cardiac progenitor formation, along with tinman and T-box factors, but also plays an important role in establishing and/or maintaining proper heart function, which is partially through another key regulator Tbx20/nmr.
由“背篓”基因(pannier,pnr)编码的GATA转录因子是果蝇心脏祖细胞形成的关键调节因子。pnr在哺乳动物中的同源基因GATA4发生突变,也被认为会以单倍剂量不足的方式导致人类心脏病。Gata4功能丧失和功能获得的小鼠模型强调了Gata4在调节心脏祖细胞特化和分化中的重要性。然而,由于心脏功能缺陷相关的致死性以及脊椎动物中各种GATA因子之间的冗余性,尚不清楚pnr/Gata4是否直接参与建立和维持成体心脏生理功能。在这里,我们利用果蝇心脏模型来研究pnr在成体心脏生理功能中的作用。我们发现,pnr杂合突变体在心脏电起搏时心脏功能出现缺陷,心律失常发生率也升高。使用显性负性形式的pnrEnR在成体中特异性破坏pnr功能,揭示了pnr在调节心脏生理功能方面对心脏具有自主性需求。此外,基于nmr基因(而非tinman基因)的过表达能部分挽救pnr突变体的成体缺陷这一观察结果,我们确定Tbx20/神经术士(neuromancer,nmr)是pnr在调节心脏功能和节律规律性方面的潜在下游介质。我们得出结论,pnr不仅与tinman和T-box因子一起对早期心脏祖细胞形成至关重要,而且在建立和/或维持正常心脏功能中也发挥着重要作用,这部分是通过另一个关键调节因子Tbx20/nmr实现的。