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心脏转录因子NKX2.5与先天性心脏病的关系 被引量:1
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作者 欧阳平 王森 +2 位作者 刘浩 林梦飞 李涛 《亚洲心脑血管病例研究》 2016年第4期21-26,共6页
先天性心脏病(congenital heart disease, CHD)是胎儿时期心脏血管发育异常所致的心血管畸形,也是最常见的新生儿畸形之一,其发病率约占出生活产婴儿的约1%。先天性心脏病也是儿童死亡的主要原因之一。已有的研究发现遗传因素在CHD发病... 先天性心脏病(congenital heart disease, CHD)是胎儿时期心脏血管发育异常所致的心血管畸形,也是最常见的新生儿畸形之一,其发病率约占出生活产婴儿的约1%。先天性心脏病也是儿童死亡的主要原因之一。已有的研究发现遗传因素在CHD发病中具有很重要的作用。NKX2.5是一个重要的心脏转录因子,在心脏的早期发育和成体心脏的维护中均起很重要的作用。已有较多研究报道NKX2.5基因突变导致房间隔缺损(atrial septal defect, ASD)、室间隔缺损(ventricular septal defect, VSD)和房室传导阻滞(atrioventricular block, AVB)等CHD表型产生。突变的NKX2.5的转录活性、DNA结合活性和核定位等功能发生改变,并影响NKX2.5下游基因的表达。我们将主要论述NKX2.5和CHD的关系,讨论NKX2.5突变引起CHD发生的可能机制。 展开更多
关键词 先天性心脏病 NKX2.5 基因突变
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Gap-free genome assemblies of two Pyrus bretschneideri cultivars and GWAS analyses identify a CCCH zinc finger protein as a key regulator of stone cell formation in pear fruit
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作者 Yunpeng Cao Xiaofeng Feng +13 位作者 Baopeng Ding Heqiang Huo Muhammad Abdullah Jiayi Hong Lan Jiang Han Wang Risheng Li Yongping Cai Xiaoxu Li Zhichao Xia Rajeev K.Varshney Haifei Hu mengfei lin Fei Shen 《Plant Communications》 2025年第3期246-262,共17页
The Chinese white pear(Pyrus bretschneideri)is an economically significant fruit crop worldwide.Previous versions of the P.bretschneideri genome assembly contain numerous gaps and unanchored genetic regions.Here,we ge... The Chinese white pear(Pyrus bretschneideri)is an economically significant fruit crop worldwide.Previous versions of the P.bretschneideri genome assembly contain numerous gaps and unanchored genetic regions.Here,we generated two high-quality,gap-free genome assemblies for‘Dangshansu’(DS;503.92 Mb)and‘Lianglizaosu’(ZS;509.01 Mb),each anchored to 17 chromosomes,achieving a benchmarking universal single-copy ortholog completeness score of nearly 99.0%.Our genome-wide association studies explored the associations between genetic variations and stone cell traits,revealing a significant association peak on DS chromosome 3 and identifying a novel non-tandem CCCH-type zinc finger gene,designated PbdsZF.Through genetic transformation,we verified the pivotal role of PbdsZF in regulation of both lignin biosynthesis and stone cell formation,as it transcriptionally activates multiple genes involved in these processes.By binding to the CT-rich motifs CT1(CTTTTTTCT)and CT2(CTCTTTTT),PbdsZF significantly influences the transcription of genes essential for lignin production,underscoring its regulatory importance in plant lignin metabolism.Our study illuminates the complex biology of fruit development and delineates the gene regulatory networks that influence stone cell and lignocellulose formation,thereby enriching genetic resources and laying the groundwork for the molecular breeding of perennial trees. 展开更多
关键词 Pyrus bretschneideri gap-free genome stone cell formation GWAS transcriptional regulation
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