We analyzed the abnormal shoot in youth (asy) mutant to understand the phase-specific regulation of shoot development. asy showed various shoot abnormalities, including small leaves due to the precocious termination o...
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We analyzed the abnormal shoot in youth (asy) mutant to understand the phase-specific regulation of shoot development. asy showed various shoot abnormalities, including small leaves due to the precocious termination of cell division, defects in leaf blade-sheath boundary formation, and abnormal shoot apical meristem maintenance at the early vegetative stage. These defects recovered with advanced development. ASY encodes a DUF791 domain protein, which is part of the major facilitator superfamily. Despite stage-specific phenotypes, the ASY expression level was roughly constant throughout development. A paralog of ASY, ASL, exists in the rice genome and is supposed to have redundant functions. ASL expression was relatively low in early-stage embryos but increased at later stages. Thus, asy phenotypes were limited to the stage when ASL expression was suppressed. A homology search revealed that ASY is a homolog of the Chlamydomonas CrMoT2 gene, which encodes a molybdate transporter. ASY was suggested to encode a molybdate transporter based on its sequence similarity with CrMoT2 and predicted transmembrane topology. This is the first report of a CrMOT2-type molybdate transporter in higher plants.
全基因组关联研究已成功地发现了十几个位点与唇腭裂的发生相关。然而,这些信号可能只与特定人群相关联,需要在其他人群进行反复验证以发现真正致病SNP位点。我们在来自欧洲(美国和丹麦)、亚洲(日本和蒙古)人群的946个家系(3436个人)验证唇腭裂全基因组关联研究Meta分析发现的6个显著相关的位点:rs742071(1p36),rs7590268(2p21),rs7632427(3p11.1),rs12543318(8q21.3),rs8001641(13q31.1)和rs7179658(15q22.2);同时对来自美国,蒙古,和菲律宾三个人群的713个病例,438个正常对照及485个核心家系在SPRY2基因下游200Kb的三个非编码保守区进行直接测序。我们发现rs8001641位点显著与欧洲人群非综合征型唇裂伴腭裂的发生相关((p=4 x 10-5,ORtransmission=1.86和95%CI:1.38-2.52)。我们还在亚洲和欧洲的病例中发现了一些位于保守区域的遗传变异,它们可帮助定位与唇腭裂发生风险相关的常见遗传变异。这项研究进一步证实了先前报道的rs8001641和欧洲人群唇腭裂之间的关联。
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