Microrchidia CW-type zinc finger 2(MORC2)is a member of the MORC superfamily of nuclear proteins.Growing evidence has shown that MORC2 not only participates in gene transcription and chromatin remodeling but also play...Microrchidia CW-type zinc finger 2(MORC2)is a member of the MORC superfamily of nuclear proteins.Growing evidence has shown that MORC2 not only participates in gene transcription and chromatin remodeling but also plays a key in human disease and tumor development by regulating the expression of downstream oncogenes or tumor suppressors.The present review provides an updated overview of MORC2 in the aspect of cancer hallmark and therapeutic resistance and summarizes its upstream regulators and downstream target genes.This systematic review may provide a favorable theoretical basis for emerging players of MORC2 in tumor development and new insight into the potential clinical application of basic science discoveries in the future.展开更多
DIGFAN综合征(MIM 619090)是一种复杂的常染色体显性遗传的神经系统疾病,其致病基因为MORC2(Microrchidia CW-type zinc finger protein 2,MIM 616661)。MORC2基因是相关学者在近年来才发现与人类疾病相联系的,尤其是神经系统疾病[1-3]...DIGFAN综合征(MIM 619090)是一种复杂的常染色体显性遗传的神经系统疾病,其致病基因为MORC2(Microrchidia CW-type zinc finger protein 2,MIM 616661)。MORC2基因是相关学者在近年来才发现与人类疾病相联系的,尤其是神经系统疾病[1-3],其突变后的常见表型为腓骨肌萎缩症2Z型[4-6](Charcot-Marie-Tooth disease,CMT,MIM 616688),而近年来已发现DIGFAN综合征为该基因突变的新表型[7]。其主要特征是发育迟缓(de-velopmental delay)、生长障碍(impaired growth)、特殊面容(dysmorphic facies)以及轴突神经病变(Ax-onal neuropathy)。本文报告1例DIGFAN综合征患儿的临床资料,并经芯片捕获高通量测序技术检测发现其MORC2基因存在chr22:31354670,c.79(exon2)G>A,p.E27K(p.Glu27Lys)(NM 001303256)的新发突变,根据美国医学遗传学与基因组学学会(American College of Medical Genet-ics and Genomics,ACMG)指南,该变异有致病性。展开更多
基金financially supported in part by grants from the National Natural Science Foundation of China(No.81572611 and 81828009)the Foundation Committee of Basic Research of Liaoning Province,China(No.LJKMZ20221205)the Application Foundation Plan Project of Liaoning Provincial Department of Science and Technology(China)(No.2023JH2/101300012).
文摘Microrchidia CW-type zinc finger 2(MORC2)is a member of the MORC superfamily of nuclear proteins.Growing evidence has shown that MORC2 not only participates in gene transcription and chromatin remodeling but also plays a key in human disease and tumor development by regulating the expression of downstream oncogenes or tumor suppressors.The present review provides an updated overview of MORC2 in the aspect of cancer hallmark and therapeutic resistance and summarizes its upstream regulators and downstream target genes.This systematic review may provide a favorable theoretical basis for emerging players of MORC2 in tumor development and new insight into the potential clinical application of basic science discoveries in the future.
文摘DIGFAN综合征(MIM 619090)是一种复杂的常染色体显性遗传的神经系统疾病,其致病基因为MORC2(Microrchidia CW-type zinc finger protein 2,MIM 616661)。MORC2基因是相关学者在近年来才发现与人类疾病相联系的,尤其是神经系统疾病[1-3],其突变后的常见表型为腓骨肌萎缩症2Z型[4-6](Charcot-Marie-Tooth disease,CMT,MIM 616688),而近年来已发现DIGFAN综合征为该基因突变的新表型[7]。其主要特征是发育迟缓(de-velopmental delay)、生长障碍(impaired growth)、特殊面容(dysmorphic facies)以及轴突神经病变(Ax-onal neuropathy)。本文报告1例DIGFAN综合征患儿的临床资料,并经芯片捕获高通量测序技术检测发现其MORC2基因存在chr22:31354670,c.79(exon2)G>A,p.E27K(p.Glu27Lys)(NM 001303256)的新发突变,根据美国医学遗传学与基因组学学会(American College of Medical Genet-ics and Genomics,ACMG)指南,该变异有致病性。
